Niedobór odporności pierwotny

Niedobór odporności pierwotny
Epidemiologia

Niedobory odporności pierwotne (PID) to heterogenna grupa ponad 450 chorób genetycznych charakteryzujących się wrodzonymi defektami układu immunologicznego. Globalna częstość występowania PID wynosi od 1:1000 do 1:10 000, z dużym odsetkiem przypadków pozostających niezdiagnozowanych (70-90%). W USA częstość rozpoznania wzrosła z 38,9 do 50,5 na 100 000 osób (ubezpieczeni prywatnie) w latach 2001-2007, a nowsze dane wskazują na około 1:1200. W Polsce wskaźnik chorobowości wynosi 1,44 na 100 000 mieszkańców, przy szacowanych 20 000 chorych, z czego tylko 4000-5000 jest zdiagnozowanych. Najczęstsze są niedobory przeciwciał (63,4% w USA), w tym selektywny niedobór IgA (14,1% globalnie) i pospolity zmienny niedobór odporności (CVID) z częstością około 1:25 000. Ciężkie formy, jak SCID, występują z częstością 1:58 000 noworodków. Diagnostyka i rozpoznawalność PID poprawiły się dzięki badaniom przesiewowym noworodków (test TREC) oraz technikom sekwencjonowania nowej generacji (NGS), jednak opóźnienia diagnostyczne nadal wynoszą średnio 2-7 lat, co pogarsza rokowanie i zwiększa koszty opieki zdrowotnej.

Epidemiologia niedoboru odporności pierwotnego

Niedobór odporności pierwotny (ang. Primary Immunodeficiency, PID) obejmuje heterogeniczną grupę ponad 450 różnych chorób genetycznych charakteryzujących się defektami wrodzonymi jednego lub więcej komponentów układu immunologicznego. Szacuje się, że na całym świecie około 6 milionów osób cierpi na pierwotne niedobory odporności, spośród których 70-90% pozostaje niezdiagnozowanych.¹² Według danych z różnych źródeł, ogólna częstość występowania PID waha się od 1:1000 do 1:10 000 osób na świecie, przy czym dane te mogą być znacznie niedoszacowane ze względu na brak rozpoznania.¹³

W Stanach Zjednoczonych, badania wskazują na wyższą częstość występowania PID niż wcześniej zakładano. W latach 2001-2007 rozpowszechnienie diagnoz PID wzrosło z 38,9 do 50,5 na 100 000 osób wśród ubezpieczonych prywatnie oraz z 29,1 do 41,1 na 100 000 wśród ubezpieczonych publicznie.⁴⁵ Nowsze dane sugerują, że częstość występowania zdiagnozowanych PID w USA wynosi około 1 na 1200 osób.⁶⁷ W niektórych badaniach szacuje się, że aż 1-2% populacji może być dotkniętych PID, gdy weźmie się pod uwagę wszystkie typy i odmiany.⁸

W Europie rozpowszechnienie PID również jest zróżnicowane. We Francji szacuje się, że ogólna częstość występowania wynosi 4,4 przypadków na 100 000 mieszkańców.¹ W Islandii odnotowano wysoką częstość występowania PID na poziomie 18,8 na 100 000 mieszkańców.⁹ W Polsce szacuje się, że około 20 000 osób cierpi na PID, z czego tylko 4000-5000 przypadków zostało zdiagnozowanych, co daje wskaźnik chorobowości 1,44 na 100 000 mieszkańców według rejestru Europejskiego Towarzystwa ds. Niedoborów Odporności (ESID).¹⁰

Różnice regionalne i etniczne

Występowanie PID wykazuje znaczne różnice regionalne i etniczne. W USA częstość występowania PID jest ponad dwukrotnie wyższa wśród osób rasy białej w porównaniu do osób rasy czarnej czy pochodzenia latynoskiego.¹¹¹² Różnice te obserwuje się we wszystkich grupach diagnostycznych PID, z wyjątkiem defektów neutrofilów.

Czynniki etniczne i geograficzne mogą znacząco wpływać na częstość występowania i prezentację kliniczną tych zaburzeń.¹³ Na przykład, niektóre formy ciężkiego złożonego niedoboru odporności (SCID) mają wyższą częstość występowania w określonych populacjach: niedobór produktu genu Artemis u Indian Navajo ma częstość występowania 1 na 2000, niedobór ADA w populacji somalijskiej – 1 na 5000, a zespół hipoplazji chrząstkowo-włosowej (CHH) w populacji fińskiej.¹⁴

W regionach, gdzie małżeństwa między krewnymi są powszechne, obserwuje się zwiększoną częstość występowania PID ze względu na autosomalny recesywny model dziedziczenia wielu z tych chorób.¹⁵ W badaniu przeprowadzonym w Iranie wykazano pozytywną korelację między pokrewieństwem rodziców a ryzykiem wystąpienia PID (OR=2,68, 95% CI: 1,07-6,70).¹⁵

Wzorce demograficzne

Dane dotyczące rozkładu płci i wieku pacjentów z PID wskazują, że około 58,3% pacjentów na świecie stanowią mężczyźni, a 41,7% kobiety. W USA 55,7% pacjentów to mężczyźni, a 44,3% to kobiety.¹⁶ Większa liczba mężczyzn z PID wynika częściowo z faktu, że niektóre typy PID są sprzężone z chromosomem X (X-linked), co powoduje, że występują one częściej u chłopców. Około 60% osób z pierwotnym niedoborem odporności to mężczyźni.¹⁷

Jeśli chodzi o wiek, globalnie 63% pacjentów z PID ma 19 lat lub mniej, podczas gdy 37% ma 20 lat lub więcej.¹⁶ Większość PID rozpoznawana jest w dzieciństwie, chociaż łagodniejsze formy mogą nie być rozpoznane aż do wieku dorosłego.⁷¹⁸ W przypadku pospolitego zmiennego niedoboru odporności (CVID), który jest jednym z najczęstszych PID, choroba może ujawnić się u niemowląt, małych dzieci, nastolatków lub nawet u osób w wieku 20-40 lat lub starszych.¹⁹

Częstotliwość występowania poszczególnych typów PID

Wśród zdiagnozowanych przypadków PID, niedobory przeciwciał (humoralne) stanowią najliczniejszą grupę. Badania wykazują, że niedobory przeciwciał stanowią 63,4% przypadków PID w USA, 47,7% na arenie międzynarodowej i 53% globalnie.²⁰ Problemy z limfocytami B są najczęstszymi pierwotnymi zaburzeniami niedoboru odporności, stanowiąc ponad połowę wszystkich przypadków.²¹

Dane dotyczące najczęstszych typów PID wskazują, że selektywny niedobór IgA jest najbardziej rozpowszechniony, stanowiąc 16,4% przypadków w USA, 13,0% na arenie międzynarodowej i 14,1% globalnie. Pospolity zmienny niedobór odporności (CVID) wykazuje rozpowszechnienie 15,4% w USA, 11,2% na arenie międzynarodowej i 12,6% globalnie.¹⁶

CVID jest stosunkowo częstą formą pierwotnego niedoboru odporności, występującą u około 1 na 25 000 osób.²² Z kolei częstość występowania SCID, jednej z najcięższych form PID, szacuje się na 1 na 58 000 noworodków (95% CI 1/46 000-80 000).²³

Łagodniejsze formy pierwotnego niedoboru odporności, takie jak selektywny niedobór immunoglobuliny A, są stosunkowo częste, z częstością występowania 1:600 w losowych grupach osób (takich jak zdrowi dawcy krwi).²⁴ Inne zaburzenia są wyraźnie rzadsze, z częstością występowania między 1:100 000 a 1:2 000 000.²⁴

Trendy w diagnostyce PID

Okres	Częstość występowania PID w USA (na 100 000)	Wzrost rozpoznawalności (%)
2001	38,9 (ubezpieczeni prywatnie) 29,1 (ubezpieczeni publicznie)	–
2007	50,5 (ubezpieczeni prywatnie) 41,1 (ubezpieczeni publicznie)	29,8% (prywatnie) 41,2% (publicznie)
2013-2021	–	96,3% (USA) 86,1% (globalnie)

Dane z Globalnej Sieci Centrów Jeffreya Modella (JMCN) wskazują na znaczący wzrost liczby diagnozowanych i leczonych pacjentów z PID. W latach 2013-2021 odnotowano 96,3% wzrost liczby pacjentów obserwowanych w USA i 86,1% wzrost na całym świecie.²⁵ W tym samym okresie liczba pacjentów zidentyfikowanych z konkretnym defektem PID wzrosła o 46,6% w USA i 47,9% globalnie.²⁶

Ten znaczący wzrost jest częściowo związany z wprowadzeniem badań przesiewowych noworodków, ulepszeniami w diagnostyce molekularnej i postępem w technologiach genomowych.²⁷ Zwiększona świadomość może również przyczyniać się do wzrostu rozpoznawalności tych chorób.¹²

Problem opóźnionej diagnozy PID

Jednym z głównych wyzwań w zakresie PID jest opóźniona diagnoza, co stanowi istotny problem zarówno w krajach rozwijających się, jak i rozwiniętych.¹³ Według dostępnych danych, średnie opóźnienie diagnostyczne u pacjentów z PID wynosi od 2,05 ± 1,7 lat do 7 lat, a w niektórych przypadkach nawet dłużej.²⁸²⁹¹⁵

Badanie przeprowadzone w USA wykazało, że ponad 40% pacjentów z PID nie zostało zdiagnozowanych aż do wieku dorosłego, pomimo częstych doniesień o poważnych lub przewlekłych problemach zdrowotnych, takich jak zapalenie zatok, oskrzeli i zapalenie płuc przed postawieniem diagnozy.¹³ Opóźnienie w rozpoznaniu i leczeniu PID często prowadzi do poważnych konsekwencji zdrowotnych.²⁹

Główne przyczyny opóźnionej lub błędnej diagnozy PID obejmują:

Złożoną naturę PID i różnorodność objawów i manifestacji klinicznych²⁹
Stosunkowo niską świadomość objawów wśród lekarzy podstawowej opieki zdrowotnej²⁹
Potrzebę konsultacji u wielu specjalistów przed postawieniem właściwej diagnozy²⁹
Ograniczoną dostępność zaawansowanych badań diagnostycznych, szczególnie w krajach o niższych dochodach³⁰

Opóźniona diagnoza PID wiąże się z gorszymi wynikami i poważnymi powikłaniami, w tym uszkodzeniem narządów.²⁹ Z drugiej strony, wczesna diagnoza może poprawić stan zdrowia, jakość życia, a nawet długość życia pacjentów z PID.³¹ Co więcej, wydatki na opiekę zdrowotną mogą być zmniejszone o ponad 50% po zdiagnozowaniu PID.³¹

Wpływ pandemii COVID-19 na świadomość PID

Pandemia COVID-19 paradoksalnie mogła przyczynić się do zwiększenia świadomości na temat chorób układu odpornościowego, takich jak PID. Gdy populacja ogólna doświadczyła życia z wszechobecnym ryzykiem zarażenia, mogło to pomóc w lepszym zrozumieniu chorób układu odpornościowego i promowaniu wysiłków zachęcających ludzi do wzajemnej ochrony.³²

Narzędzia i inicjatywy w zakresie nadzoru nad PID

W ostatnich latach podjęto liczne inicjatywy mające na celu poprawę nadzoru epidemiologicznego i diagnostyki PID na całym świecie.

Rejestry pacjentów z PID

Rejestry pacjentów są kluczowym źródłem danych epidemiologicznych dotyczących PID. Europejskie Towarzystwo ds. Niedoborów Odporności (ESID) prowadzi największy rejestr PID z informacjami o ponad 16 000 pacjentów i ośmiu szerokich kategoriach zaburzeń.³³ Podobne rejestry istnieją w Ameryce Łacińskiej (LASID), Azji i innych regionach.³⁴³⁵

Dane z rejestrów są jednak często niedoszacowane, głównie ze względu na wysoki odsetek niezdiagnozowanych pacjentów w populacji PID, ale także ze względu na ograniczoną liczbę lekarzy regularnie zbierających dane kliniczne.³⁶

Badania przesiewowe noworodków

Jednym z najważniejszych postępów w nadzorze nad PID jest wprowadzenie badań przesiewowych noworodków w kierunku ciężkiego złożonego niedoboru odporności (SCID). W 2010 roku Departament Zdrowia i Opieki Społecznej USA zalecił rutynowe badania przesiewowe w kierunku SCID u noworodków.³³ Obecnie wszystkie stany w USA obejmują testami w kierunku SCID w ramach badań przesiewowych noworodków.³⁷

Badania przesiewowe noworodków wykorzystują test TREC (T-cell receptor excision circle), który może identyfikować niektóre komórkowe niedobory odporności, takie jak SCID.³⁸ Wczesne wykrycie pozwala na wczesne leczenie i może zapobiec niektórym problemom zdrowotnym spowodowanym przez PID.³⁷

Postępy w diagnostyce molekularnej

Rozwój technik sekwencjonowania nowej generacji (NGS) rewolucjonizuje diagnostykę PID, umożliwiając wczesne wykrycie i precyzyjne określenie defektu genetycznego.²⁷ Niestety, te zaawansowane techniki diagnostyczne nie są dostępne w wielu krajach, zwłaszcza w krajach o niskich dochodach.³⁰

Aby poprawić dostępność diagnostyki PID, opracowuje się również inne szybkie testy przesiewowe w kierunku niedoborów przeciwciał, które mają potencjał ułatwienia dostępu do badań w odległych obszarach krajów o mniejszych zasobach.³⁰

Międzynarodowe inicjatywy i sieci

Globalna Sieć Centrów Jeffreya Modella (JMCN) odgrywa kluczową rolę w poprawie diagnostyki i leczenia pacjentów z PID. Sieć ta obecnie obejmuje 909 lekarzy-ekspertów w 400 instytucjach, w 316 miastach i 86 krajach na sześciu kontynentach.²⁵²⁶

JMCN zapewnia platformę ułatwiającą edukację lekarzy i pacjentów, inicjatywy zwiększające świadomość i postępy w badaniach poprzez współpracę i łączność, co ostatecznie prowadzi do poprawy wyników i jakości życia pacjentów z PID.²⁶

Inne międzynarodowe inicjatywy obejmują projekty prowadzone przez Instytut Pasteura mające na celu poprawę wykrywania PID w krajach takich jak Tunezja. Dzięki działaniom pierwszej fazy projektu ATun-DIPs, skierowanym do regionów centralnych i południowych kraju, średnia roczna liczba potwierdzonych przypadków wzrosła o 26% w porównaniu do poprzednich lat.³⁹

Obciążenie chorobowe i implikacje społeczno-ekonomiczne

Niedobory odporności pierwotnej wiążą się ze znaczną zachorowalnością i śmiertelnością, powodując znaczne obciążenie dla zdrowia publicznego.³⁴ Pacjenci z PID mają zwiększone ryzyko nawracających lub przewlekłych infekcji, autoimmunizacji, alergii i nowotworów.¹

Analiza wykazała znaczący wzrost liczby przyjęć do szpitala i długości pobytu pacjentów z PID w porównaniu do populacji ogólnej.¹¹ Ponadto, PID stanowi również obciążenie finansowe z punktu widzenia instytucji zabezpieczenia społecznego. W Polsce w 2015 roku wydatki na świadczenia związane z PID wyniosły 2,68 mln euro, z czego 60% stanowiły koszty zasiłków chorobowych. W tym samym roku PID było przyczyną 5456 dni nieobecności w pracy.⁴⁰

Zwiększone ryzyko nowotworów

Pacjenci z PID mają zwiększone ryzyko zachorowania na niektóre nowotwory. Badania wykazały 1,42-krotny nadmiarowy względny wzrost ryzyka raka u osób z PID w porównaniu z populacją dostosowaną do wieku. Ogólnie, obserwowano 42% wzrost zachorowalności na raka wśród pacjentów z PID.⁴¹

Dwa główne czynniki wydają się zwiększać ryzyko raka wśród pacjentów z PID: wadliwa naprawa DNA i niepowodzenie w zapewnieniu nadzoru immunologicznego nad przewlekłymi infekcjami wirusowymi, takimi jak EBV i ludzki wirus brodawczaka, które mogą prowadzić do raka.⁴¹

Rynek terapii PID

Globalny rynek zaburzeń pierwotnego niedoboru odporności został wyceniony na 7,15 miliarda USD w 2023 roku i przewiduje się, że będzie rósł w tempie CAGR 6,4% w latach 2024-2030.⁴² Wysoka częstość występowania i znaczny odsetek niezdiagnozowanych przypadków PID stanowią istotną szansę rynkową.

W miarę poprawy świadomości i narzędzi diagnostycznych oczekuje się, że zapotrzebowanie na zaawansowane metody leczenia i rozwiązania w zakresie opieki będzie napędzać znaczący wzrost w branży PID.⁴³ Scena konkurencyjna na rynku jest wysoce konkurencyjna, a kluczowi gracze, tacy jak Baxter International, CSL Behring, Takeda Pharmaceutical, Octapharma, Biotest, Grifols i Kedrion Biopharma, zajmują znaczące pozycje.⁴³

Wyzwania i perspektywy na przyszłość

Mimo znaczących postępów w ostatnich dekadach, nadal istnieją istotne wyzwania w nadzorze epidemiologicznym nad PID.

Wyzwania w nadzorze i diagnostyce

Główne wyzwania obejmują:

Utrzymujące się niedodiagnozowanie PID na całym świecie⁴⁴
Ograniczoną dostępność zaawansowanych technik diagnostycznych w krajach o niskich dochodach³⁰
Potrzebę zwiększenia świadomości PID wśród lekarzy podstawowej opieki zdrowotnej⁴⁵
Brak krajowych rejestrów PID w wielu krajach⁴⁶
Zbyt małą liczbę immunologów klinicznych i genetyków, co skutkuje dłuższym czasem oczekiwania na konsultacje⁴⁷

Przyszłe kierunki

Aby lepiej ocenić epidemiologię PID i jej obciążenie chorobowe, potrzebne są krajowe projekty rejestrowe na poziomie rządowym.⁴⁶ Ponadto, kluczowe będzie zapewnienie powszechnego dostępu do wielu postępów, jakie obserwowaliśmy, oraz zapewnienie zrównoważonego mechanizmu umożliwiającego terminowy dostęp do przyszłych osiągnięć.³⁰

Warto podkreślić potrzebę edukacji lekarzy i podnoszenia świadomości społecznej na temat PID, co może prowadzić do wcześniejszej diagnozy i mniejszej zachorowalności i śmiertelności.⁴⁵ Jak pokazuje przykład projektu ATun-DIPs w Tunezji, ukierunkowane działania edukacyjne mogą znacząco zwiększyć liczbę diagnozowanych przypadków.³⁹

Poprawa życia pacjentów z PID może być osiągnięta tylko poprzez silne i efektywne partnerstwa między lekarzami, rządami, przemysłem i pacjentami.⁴⁸ Takie partnerstwa już zaowocowały wdrożeniem wielu programów mających na celu poprawę diagnostyki i leczenia PID.

Rola badań przesiewowych i wczesnej interwencji

Badania przesiewowe noworodków w kierunku SCID dają nadzieję na wczesną diagnozę i leczenie PID, ale muszą być szerzej wdrażane w publicznych i prywatnych placówkach opieki zdrowotnej, ponieważ dają szansę na wczesne wykrycie i wyleczenie PID.³⁰

Wczesna diagnoza jest kluczowa dla zmniejszenia zachorowalności i śmiertelności oraz poprawy wyników leczenia.⁴⁹ Obecnie przeszczep krwiotwórczych komórek macierzystych (HSCT) jest jedyną znaną metodą leczenia dla niektórych form PID,⁵⁰ a wczesna diagnoza umożliwia wczesną interwencję.

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Materiały źródłowe

#1 Primary Immunodeficiencies: A Decade of Progress and a Promising Future
https://pmc.ncbi.nlm.nih.gov/articles/PMC7935502/
Around the world, over 6 million people are affected by primary immunodeficiencies, among which 70 to 90% remain undiagnosed. More than 430 different primary immunodeficiencies or primary immunodeficiency diseases (PIDs) have been described, caused by inherited defects in one or more component of the immune system. This leaves people living with PIDs more prone than other to infections but also to severe autoinflammation, autoimmunity, allergy, and malignancy. […] PIDs are classified as rare diseases and cause a vulnerability to germs such as bacteria, viruses, fungi, and protozoa; infections that can turn chronic and generate long lasting healthcare issues or be fatal if they are not timely and adequately managed. PIDs can also predispose to cancer and immune diseases, including allergy, autoimmunity, and inflammation. Worldwide, approximately 1 in 10,000 people are affected by PIDs, a number which is likely underestimated due to missed diagnoses. The prevalence of the diseases varies greatly from country to country and is higher than this average in several countries. In France for instance, it is estimated that the overall prevalence is 4.4 cases per 100,000 inhabitants.
#2 Advances in immune monitoring: standardized flow cytometry testing in primary immunodeficiency
https://www.nature.com/articles/d44224-024-00020-4
It is estimated that over 6 million people are affected by primary immunodeficiencies (PID) world-wide, among which 70 to 90% remain undiagnosed. […] Consequently, PID is often suspected due to a history of recurrent or severe infections and related complications. […] Affordable and accessible novel diagnostic methodologies for routine laboratories can expedite PID diagnosis, leading to better patient outcomes and increased survival rates. […] It will also examine the role of the flow cytometry laboratory in diagnosing and monitoring PID, including the characterization of specific cell populations and subpopulations, protein expression, and immune abnormalities related to cell function. […] Primary immune deficiency (PID) and the importance of standardized testing.
#3 Primary Immunodeficiencies Worldwide | Frontiers Research Topic
https://www.frontiersin.org/research-topics/5275/primary-immunodeficiencies-worldwideundefined
Primary Immunodeficiencies are a group of approximately 300 diseases characterized by recurrent or chronic infections, autoimmunity, allergy, or inflammation as a consequence of genetic alterations affecting the immune system. The overall incidence is around 1:10,000 and they are more prevalent in children. […] The field of Primary Immunodeficiencies is growing fast in terms of scientific knowledge and outreaching doctors and patients worldwide, as a consequence of educational initiatives, scientific meetings, medical societys activities, supporting agencies, and patient associations. […] Consequently, the prevalence and distribution of the eight groups of primary immunodeficiencies vary worldwide, and the clinical profile of a particular primary immunodeficiency will also vary. […] Considering the gap in the knowledge of Primary Immunodeficiencies worldwide, this issue was developed to educate doctors and other health professionals from the diverse geographical areas of the world, helping them to recognize and manage patients with primary immunodeficiencies. Topics that will be covered include: Epidemiology Different phenotypes for the same gene defect according to the geographical area Types of PIDs and relative abundance in geographical areas (esp. the issue of consanguineous marriage, closed communities, etc.) Genotypic variation: any clusters for particular geographical areas? Infectious diseases and primary immunodeficiencies (esp. Tropical diseases)
#4 Prevalence and Morbidity of Primary Immunodeficiency Diseases, United States 2001â2007
https://pmc.ncbi.nlm.nih.gov/articles/PMC4820073/
Few studies have estimated population prevalence and morbidity of primary immunodeficiency diseases (PIDD). We used administrative healthcare databases to estimate the prevalence of PIDD diagnoses in the United States from 2001 to 2007. […] Between 2001 and 2007, prevalence of any PIDD diagnosis increased from 38.9 to 50.5 per 100,000 among privately insured and from 29.1 to 41.1 per 100,000 among publicly insured persons. […] In this large database, we found a higher prevalence of diagnosed PIDD than has been reported previously from registries. Increased awareness may have contributed to the increasing prevalence. […] PIDD are considered rare diseases, but most prevalence estimates have been based on selected populations (e.g. specialty clinics, disease registries). […] Previous estimates have been based on disease registries or through reporting of specific PIDD in a clinical population.
#5
https://link.springer.com/article/10.1007/s10875-014-0102-8
Few studies have estimated population prevalence and morbidity of primary immunodeficiency diseases (PIDD). […] We used administrative healthcare databases to estimate the prevalence of PIDD diagnoses in the United States from 2001 to 2007. […] Between 2001 and 2007, prevalence of any PIDD diagnosis increased from 38.9 to 50.5 per 100,000 among privately insured and from 29.1 to 41.1 per 100,000 among publicly insured persons. […] In this large database, we found a higher prevalence of diagnosed PIDD than has been reported previously from registries. Increased awareness may have contributed to the increasing prevalence.
#6
https://link.springer.com/article/10.1007/s10875-007-9103-1
Although health surveys are routinely used to estimate the population incidence and prevalence of many chronic and acute conditions in the U.S. population, they have infrequently been used for rare conditions such as primary immunodeficiency diseases (PID). […] Accurate prevalence measures are needed to separate the truly rare condition from those that primary care doctors are likely to see in their practices today, if early diagnosis and treatment are to be achieved. […] These findings suggest a population prevalence of diagnosed PID in the United States at approximately 1 in 1,200 persons. […] Diagnoses of PID in the United States are far more common than suggested in the literature. […] The objectives of the survey reported here were to (1) estimate the population prevalence of PID in the United States based on community samples rather than clinical samples, using a national probability sampling frame so that population size can be estimated, and (2) compare the characteristics of a true national sample of PID patients to previous surveys of patients within the Immune Deficiency Foundation.
#7 Primary immunodeficiency – Wikipedia
https://en.wikipedia.org/wiki/Primary_immunodeficiency
Primary immunodeficiencies are disorders in which part of the body’s immune system is missing or does not function normally. To be considered a primary immunodeficiency (PID), the immune deficiency must be inborn, not caused by secondary factors such as other disease, drug treatment, or environmental exposure to toxins. Most primary immunodeficiencies are genetic disorders; the majority are diagnosed in children under the age of one, although milder forms may not be recognized until adulthood. […] About 1 in 500 people in the United States are born with a primary immunodeficiency. […] A survey of 10,000 American households revealed that the prevalence of diagnosed primary immunodeficiency approaches 1 in 1200. This figure does not take into account people with mild immune system defects who have not received a formal diagnosis.
#8 Primary Immunodeficiency Diseases Statistics: Patients, Trends, Market
https://www.ihealthcareanalyst.com/worldwide-primary-immunodeficiency-statistics-patients-trends-market/
Primary immunodeficiencies (PI) are defects of the immune system that cause severe, sometimes life threatening, infections if not diagnosed and treated appropriately. Many patients with PI are undiagnosed, underdiagnosed, or misdiagnosed. There are at least 300 genetically defined single-gene inborn errors of immunity. […] According to Immune Deficiency Foundation (IDF), PI may be more common than previously estimated and that as many as 1â2% of the population may be affected with a PI when all types and varieties are considered. […] For example, the distribution of patients diagnosed with primary immunodeficiency diseases based on the categories defined by the IUIS Expert Committee for the Classification of PI, predominantly Antibody Deficiencies are reported by physicians to be 63.4% in the US, 47.7% internationally, and 53% globally.
#9 Epidemiology of Primary Immunodeficiency in Iceland | springermedicine.com
https://www.springermedicine.com/epidemiology-of-primary-immunodeficiency-in-iceland/21648306
Primary immunodeficiencies (PID) are rare heterogeneous diseases. Little is known about the prevalence of PID in Iceland and no national registry exists. The aim of the study was to describe the epidemiology of PID in Iceland. […] In the beginning of 2011 there were 60 individuals living in Iceland with a known PID diagnosis meeting ESIDs criteria. Estimated prevalence for PID in the Icelandic population of 318.452 habitants was 18.8 for 100.000 inhabitants. Predominantly antibody disorders comprised the largest category of PID in Iceland. […] The prevalence of PID is high in Iceland compared to reports from other nations. This high prevalence may indicate that PID is more common than generally recognized.
#10 Article – JHPOR
https://www.jhpor.com/article/2080-primary-immunodeficiencies—epidemiology-spending-on-therapy-diagnostic-and-therapeutic-needs-in-poland
It is estimated that globally ca. 6 million patients suffer from PID, including ca. 638 000 in EU countries (both diagnosed and undiagnosed cases) (6). […] Scientific publications estimate that in Poland ca. 20 000 individuals suffer from PID, including only 4 000 -5 000 cases that have been diagnosed (7). Based on the number of PID cases reported in the registry of European Society for Immunodeficiencies (ESID) the prevalence rate for Polish population is 1.44/100 000 inhabitants (8). […] The detailed analysis of all the availability of PID diagnostic and therapeutic services in Poland has allowed to identify the main barriers hindering access to them for the patients. […] Another vital aspect is too small number of immunology clinicians and geneticists, which results in longer waiting time for consultations.
#11 Prevalence and Morbidity of Primary Immunodeficiency Diseases, United States 2001â2007
https://pmc.ncbi.nlm.nih.gov/articles/PMC4820073/
The purpose of this study was to estimate the population prevalence of PIDD in a large national sample of children and adults using a cross sectional survey of data from commercial healthcare claims and Medicaid programs. […] Our prevalence estimates of 5.1:10,000 (CCE) and 3.9:10,000 (MC) for any PIDD are markedly higher than previous estimates from registries and two population surveys, which range from 1:10,000 to 1:100,000. Prevalence increased over time in both CCE and MC. […] The prevalence of any PIDD was more than twice as high in Whites as in Blacks or Hispanics, a pattern observed for all diagnosis groups, except neutrophil defects. […] Our analysis demonstrated a significant increase in hospital admissions and length of stay for PIDD patients compared to the general population.
#12 Prevalence and Morbidity of Primary Immunodeficiency Diseases, United States 2001â2007
https://stacks.cdc.gov/view/cdc/38817
Few studies have estimated population prevalence and morbidity of primary immunodeficiency diseases (PIDD). […] We used administrative healthcare databases to estimate the prevalence of PIDD diagnoses in the United States from 2001 to 2007. […] Between 2001 and 2007, prevalence of any PIDD diagnosis increased from 38.9 to 50.5 per 100,000 among privately insured and from 29.1 to 41.1 per 100,000 among publicly insured persons. […] Prevalence was more than twice as high among Whites as among Blacks or Hispanics. […] In this large database, we found a higher prevalence of diagnosed PIDD than has been reported previously from registries. Increased awareness may have contributed to the increasing prevalence.
#13 Surveillance of Primary Immunodeficiency Disorders in Mofid Children’s Hospital: A 10-year Retrospective Experience
https://brieflands.com/articles/apid-61642
Ethnic and geographical differences may significantly influence the frequency and presentation of these disorders. […] Therefore, local epidemiological data are always necessary and useful in the management of primary immunodeficiency disorders. […] Delay in the diagnosis of PID disorders is not only evident in undeveloped or developing countries, but is also reported in developed countries. […] A national survey of PID disorders in the United States published in 2011 found that more than 40% of patients with these disorders were not diagnosed until adulthood, despite frequent reports of serious or chronic health conditions, such as sinusitis, bronchitis, and pneumonia prior to diagnosis. […] Physicians’ awareness of the prevalence of PID disorders, common associated infections, and pathogenic microorganisms may result in earlier diagnosis and application of appropriate treatments before end organ damage.
#14 Severe Combined Immunodeficiency (SCID): Practice Essentials, Pathophysiology, Epidemiology
https://emedicine.medscape.com/article/210249-overview
Although there is no racial predilection for combined B-cell and T-cell disorders, some forms of combined immunodeficiency have been reported more in some ethnic groups, such as the following: JAK3 mutations in Italy; MHC class II deficiency of North African origin; ADA-SCID in the Somali population has an incidence of 1 in 5,000; ZAP70 mutations in the Mennonite population; Artemis gene product deficiency in Navajo Indians of Athabasca descent has a reported incidence of 1 in 2,000; RAG1/RAG2 deficient SCID in Europe; CHH in the Finnish population and the old Amish order in the United States. […] Most patients with these disorders become symptomatic with recurrent infections, failure to thrive, or both in the first months of life.
#15 Evaluation of the frequency and diagnostic delay of primary immunodeficiency disorders among suspected patients based on the 10 warning sign criteria: A cross-sectional study in Iran | Allergologia et Immunopathologia
https://www.elsevier.es/en-revista-allergologia-et-immunopathologia-105-articulo-evaluation-frequency-diagnostic-delay-primary-S0301054620300641
The prevalence of undiagnosed primary immunodeficiency diseases is remarkably high and contributes to increasing the rate of morbidity and mortality among this group of patients. […] Many countries have tried to create a database for PID.611 The results of these databases showed the geographical extent and racial differences in various types of PIDs. […] The mean diagnostic delay among primary immune deficient patients was 2.051.7 years. […] There is a meaningful delay in diagnosis of primary immune deficiencies especially in antibody deficiency defects which seeks further upgrading of knowledge in physicians. […] The most common defect diagnosed was IgA deficiency (66%), followed by SCID disorder (14%). […] Our study shows a positive relationship between parental consanguinity and the risk of having a PID disorder (OR=2.68, 95% CI: 1.076.70). […] The mean diagnostic delay in our PID patients was 2.051.7 years and ranged from 0.16 to six years. […] Delayed diagnosis of PID causes a great deal of morbidity and mortality. […] With improvement in physicians knowledge and laboratory tests, more cases of PID are being diagnosed worldwide.
#16 Primary Immunodeficiency Diseases Statistics: Patients, Trends, Market
https://www.ihealthcareanalyst.com/worldwide-primary-immunodeficiency-statistics-patients-trends-market/
As a percentage of all patients identified with a specific defect, Antibody Deficiencies account for 57 % of all patients identified with a specific defect. […] Based on the 15 most prevalent PI defects and percentage of each defect by region, Selective IgA deficiency is the most prevalent with 16.4% in the US, 13.0% internationally, and 14.1% globally. […] Common variable immunodeficiency (CVID) showed a prevalence of 15.4% in the US, 11.2% internationally, and 12.6% globally. […] With respect to gender and age, male patients accounted for 58.3% globally, while female patients accounted for 41.7%. In the US, 55.7% of the patients were male and 44.3% of patients were female. Globally, 63 % of the patients were 19 years of age or younger, while 37% were 20 years of age or older.
#17 Overview of Immunodeficiency Disorders – Immune Disorders – Merck Manual Consumer Version
https://www.merckmanuals.com/home/immune-disorders/immunodeficiency-disorders/overview-of-immunodeficiency-disorders
Primary immunodeficiency disorders may be caused by mutations, sometimes in a specific gene. If the mutated gene is on the X (sex) chromosome, the resulting disorder is called an X-linked disorder. X-linked disorders occur more often in boys. About 60% of people with primary immunodeficiency disorders are male. […] Primary immunodeficiency disorders are classified by which part of the immune system is affected: Humoral immunity, which involves B cells (lymphocytes), a type of white blood cell that produces antibodies (immunoglobulins) […] Cellular immunity, which involves T cells (lymphocytes), a type of white blood cell that helps identify and destroy foreign or abnormal cells […] Both humoral and cellular immunity (B cells and T cells) […] Phagocytes (cells that ingest and kill microorganisms)
#18 Primary immunodeficiency diseases | Radiology Reference Article | Radiopaedia.org
https://radiopaedia.org/articles/primary-immunodeficiency-diseases?lang=us
The majority are diagnosed in children under the age of one, although milder forms may not be recognized until adulthood. […] The primary immunodeficiency diseases are a heterogenous group of disorders that occur when there is an impairment of humoral or cell-mediated immunity in the absence of any recognized precipitating cause such as drug therapy or infective agent such as human immunodeficiency virus (HIV).
#19 Common Variable Immunodeficiency: Practice Essentials, Background, Pathophysiology
https://emedicine.medscape.com/article/1051103-overview
The prevalence of common variable immunodeficiency (CVID) is approximately 1 case per 50,000 population worldwide. […] CVID does not show a predilection for any specific race. […] CVID equally affects males and females. […] CVID can occur in infants, young children, adolescents, or even those aged 20-40 years or older. CVID can become evident at any time from infancy to after the fourth decade of life. Peaks of onset occur in children aged 1-5 years and in persons aged 16-20 years. More than two thirds of patients are aged 21 years or older when CVID is diagnosed.
#20 Primary Immunodeficiency Diseases Statistics: Patients, Trends, Market
https://www.ihealthcareanalyst.com/worldwide-primary-immunodeficiency-statistics-patients-trends-market/
Primary immunodeficiencies (PI) are defects of the immune system that cause severe, sometimes life threatening, infections if not diagnosed and treated appropriately. Many patients with PI are undiagnosed, underdiagnosed, or misdiagnosed. There are at least 300 genetically defined single-gene inborn errors of immunity. […] According to Immune Deficiency Foundation (IDF), PI may be more common than previously estimated and that as many as 1â2% of the population may be affected with a PI when all types and varieties are considered. […] For example, the distribution of patients diagnosed with primary immunodeficiency diseases based on the categories defined by the IUIS Expert Committee for the Classification of PI, predominantly Antibody Deficiencies are reported by physicians to be 63.4% in the US, 47.7% internationally, and 53% globally.
#21 Overview of Immunodeficiency Disorders – Immune Disorders – Merck Manual Consumer Version
https://www.merckmanuals.com/home/immune-disorders/immunodeficiency-disorders/overview-of-immunodeficiency-disorders
Complement proteins (proteins that help immune cells kill bacteria and identify foreign cells to destroy). […] Problems with B cells are the most common primary immunodeficiency disorders, accounting for more than half. […] Primary immunodeficiency disorders usually result from use of a medication or from a long-lasting serious disorder (such as cancer) but occasionally are inherited. […] Secondary immunodeficiency disorders also occur in older adults and people who are hospitalized. […] Immunodeficiency disorders may result from almost any prolonged serious disorder. For example, diabetes can result in an immunodeficiency disorder because white blood cells do not function well when the blood sugar level is high. Human immunodeficiency virus (HIV) infection may result in a secondary immunodeficiency disorder.
#22 Common variable immune deficiency (CVID) | Immune Deficiency Foundation
https://primaryimmune.org/understanding-primary-immunodeficiency/types-of-pi/common-variable-immune-deficiency-cvid
CVID is a relatively frequent form of primary immunodeficiency, found in about 1 in 25,000 persons; this is the reason it is called common. […] The usual presenting features of CVID are recurrent infections involving the ears, sinuses, bronchi (breathing tubes), and lungs (respiratory tract). […] CVID should be suspected in children or adults who have a history of recurrent bacterial infections involving ears, sinuses, bronchi, and lungs. […] The treatment of CVID is similar to that of other disorders with low levels of serum immunoglobulins. […] Ig replacement therapy combined with antibiotic therapy has greatly improved the outlook of people with CVID.
#23 Severe Combined Immunodeficiency (SCID): Practice Essentials, Pathophysiology, Epidemiology
https://emedicine.medscape.com/article/210249-overview
The accurate incidence of SCID in the United States is unknown, but it has been estimated to be in 1 per 50,000-100,000 births across all ethnic groups. A postulated reason for the lack of exact epidemiologic information is that infants with SCID may die of infections without having been diagnosed with the condition. […] With implementation of SCID newborn screening in unbiased populations, Kwan et al reported that 1 in 58,000 infants (95% CI 1/46,000-80,000) are born with SCID or leaky SCID (ie, forms of SCID, such as Omenn syndrome, characterized by normal or elevated levels of nonfunctional T cells, in contrast to the low or absent T cell counts of typical SCID). That prevalence rate is nearly twice the previous estimates based on population data or experience of centers performing hematopoietic cell transplantation therapy for SCID.
#24 Primary immunodeficiency – Wikipedia
https://en.wikipedia.org/wiki/Primary_immunodeficiency
Milder forms of primary immunodeficiency, such as selective immunoglobulin A deficiency, are fairly common, with random groups of people (such as otherwise healthy blood donors) having a rate of 1:600. Other disorders are distinctly more uncommon, with incidences between 1:100,000 and 1:2,000,000 being reported.
#25 Growth in diagnosis and treatment of primary immunodeficiency within the global Jeffrey Modell Centers Network | Allergy, Asthma & Clinical Immunology | Full Text
https://aacijournal.biomedcentral.com/articles/10.1186/s13223-022-00662-6
Primary immunodeficiencies (PI), which include more than 450 single-gene inborn errors of immunity and may affect up to 1% of the population, are genetic disorders that impair the immune system. […] Despite advancements, awareness of PI remains a critical issue for physicians and the public alike, as this leads to the enhanced and expedited management of these conditions. […] The goal of this endeavor was to raise awareness of PI to better identify, diagnose, and treat patients, reducing associated mortality and morbidity and improving quality of life (QOL). […] The JMCN currently includes 909 Expert Physicians at 400 institutions, in 316 cities, and 86 countries spanning six continents. […] From 2013 to 2021, there was a 96.3% increase in patients followed in the US and an 86.1% increase globally.
#26 Growth in diagnosis and treatment of primary immunodeficiency within the global Jeffrey Modell Centers Network | Allergy, Asthma & Clinical Immunology | Full Text
https://aacijournal.biomedcentral.com/articles/10.1186/s13223-022-00662-6
During the same period, patients identified with a specific PI defect increased by 46.6% in the US and 47.9% globally. […] This global analysis of physician-reported data on patients with PI demonstrates an increase in both diagnosed and treated patients. […] The JMCN provides a critical platform that facilitates the education of physicians and patients, awareness initiatives, and research advances, through collaboration and connectivity, ultimately resulting in improved outcomes and QOL for patients with PI. […] The JMCN has steadily and substantially grown for more than two decades and continues to substantively impact the field of Immunology globally. […] The JMCN is currently made up of 909 expert physicians at 400 institutions, in 316 cities, and 86 countries across 6 continents, and is always growing as physicians seek to be included.
#27 Growth in diagnosis and treatment of primary immunodeficiency within the global Jeffrey Modell Centers Network | Allergy, Asthma & Clinical Immunology | Full Text
https://aacijournal.biomedcentral.com/articles/10.1186/s13223-022-00662-6
The 2021 patient distribution according to the IUIS classification of PI categories was examined in the US, internationally, and globally. […] The substantial growth described above is partially due to newborn screening, molecular diagnosis, and NGS, and may need additional evaluation in the future. […] The initiation of SCID newborn screening programs, improvements in diagnostics, and advancements in genomic technologies over the past few decades have allowed for better prevalence estimates and have resulted in improved comprehension of PI and the causal mechanisms leading to monogenic defects of the immune system. […] This comprehensive global analysis of physician-reported data on patients with PI demonstrates an increase in the diagnosis of numerous genotypes throughout the JMCN.
#28 Surveillance of Primary Immunodeficiency Disorders in Mofid Children’s Hospital: A 10-year Retrospective Experience
https://brieflands.com/articles/apid-61642
Primary immunodeficiency disorders comprise a heterogeneous group of diseases in which there is a defect in the development or function of the immune system. […] The aim of this study was to determine the frequency and type of primary immunodeficiency disorders, diagnostic delay, common pathogenic microorganisms, and infectious complications in patients, admitted to Mofid Childrens hospital in the past decade (2004 – 2014). […] In 32 patients (20 males and 12 females) admitted to Mofid hospital in the past decade, chronic granulomatous disease was the most frequent primary immunodeficiency disorder (22%). […] The mean age at onset of these disorders was 15 months, and the mean delay in diagnosis was 20 months. […] Diagnostic delay is a major concern in patients with primary immunodeficiency disorders.
#29 Primary Immunodeficiency (PID) | Binding Site
https://www.thermofisher.com/bindingsite/wo/en/clinical-applications/immune-system-disorder/primary-immunodeficiency.html
Around 6 million people worldwide are estimated to have a PID, but between 70% and 90% of these are undiagnosed. It is estimated that about 5,000 individuals within the UK suffer from PID disorder. […] There is often a significant delay in the diagnosis of immunodeficiency. PID is widely under-diagnosed in most countries. In PID, delays of over seven years between first presentation and final diagnosis are common. The main reasons for a delayed or missed diagnosis of PID include the complex nature of PID, and the variety and diversity of symptoms and clinical manifestations. Patients are often reviewed by several physicians without the diagnosis being considered. Individuals with PID are often diagnosed after 3 hospital visits. There is a relatively low awareness of symptoms among primary care doctors. Delays in diagnosis and treatment are associated with poor outcomes and serious complications. Organ damage is possible if PID is not diagnosed early enough.
#30 Primary Immunodeficiencies: A Decade of Progress and a Promising Future
https://pmc.ncbi.nlm.nih.gov/articles/PMC7935502/
It will be crucial in the coming years to ensure universal access to the many advances we have seen, and provide a sustainable mechanism to allow timely access to future developments. While being a revolutionary way of diagnosing PIDs, next generation sequencing is not available in many countries, especially in low-income countries. Therefore, there is a real challenge to make this diagnosis technique universally available and affordable. Other rapid screening tests being developed for antibodies deficiencies, which have the potential to facilitate access to point-of-care testing in remote areas of less resourced countries, should also be made easily accessible. Further, new-born screening for SCID represents a hope for the early diagnosis and treatment of PIDs, but it needs to be implemented more broadly in public and private healthcare settings as it provides a chance to detect and cure PIDs early on.
#31 Primary Immunodeficiency (PID) | Binding Site
https://www.thermofisher.com/bindingsite/wo/en/clinical-applications/immune-system-disorder/primary-immunodeficiency.html
Early diagnosis comes with many benefits for both the clinicians or laboratories and the patients. Healthcare expenditure can actually be reduced by over 50% after the diagnosis of PID. And for patients an early diagnosis can improve their health, quality of life and even their lifespan. The longer the delay, the worse the prognosis can be for these patients.
#32 Primary Immunodeficiencies: A Decade of Progress and a Promising Future
https://pmc.ncbi.nlm.nih.gov/articles/PMC7935502/
Raising awareness of these genetic, hereditary defects of the immune system has taken on an even greater significance during the COVID-19 crisis. Paradoxically, as the general population experienced life with the omni-present risk of contracting an infection, the crisis may have helped to improve understanding of diseases of the immune system, such as PIDs, and promoted efforts encouraging people to protect each other.
#33 Evaluation of Primary Immunodeficiency Disease in Children | AAFP
https://www.aafp.org/pubs/afp/issues/2013/0601/p773.html
The European Society for Immunodeficiencies (ESID) has the largest registry of primary immunodeficiency diseases, with information on more than 16,000 patients and eight broad categories of disorders. […] In the United States, the most common types of primary immunodeficiency disease in children are antibody disorders, followed by combined B-cell and T-cell disorders, phagocytic defects, and complement disorders. […] Many primary immunodeficiency diseases are hereditary (most hereditary conditions are autosomal recessive inherited or X chromosomelinked). […] A basic laboratory workup that includes testing for human immunodeficiency virus (HIV) antibody, complete blood count with differential, and measurement of serum immunoglobulin and complement levels can identify children who need further testing and referral to a subspecialist for a suspected immunodeficiency disease. […] In 2010, the U.S. Department of Health and Human Services recommended routine screening for SCID in newborns. […] Five states currently require screening for T-cell disorders in newborns; another 15 states are in the process of introducing testing.
#34 Advancing the management of primary immunodeficiency diseases in Latin America: Latin American Society for Immunodeficiencies (LASID) Initiatives | Allergologia et Immunopathologia
https://www.elsevier.es/en-revista-allergologia-et-immunopathologia-105-articulo-advancing-management-primary-immunodeficiency-diseases-S0301054612000456
Primary immunodeficiency diseases (PIDD) are associated with significant morbidity and mortality and result in a significant public health burden. This is in part due to the lack of appropriate diagnosis and treatment of these patients. It is critical that governments become aware of this problem and provide necessary resources to reduce this impact on health care systems. […] The Latin American Society of Primary Immunodeficiencies (LASID) has initiated a large number of activities aimed at achieving these goals, including the establishment of a PIDD registry, development of educational programmes and guidelines, and the introduction of a PIDD fellowship programme. These initiatives are positively impacting the identification and appropriate treatment of patients with PIDD in Latin America. Nevertheless, much remains to be done to ensure that every person with PIDD receives proper therapy.
#35 Primary immunodeficiency diseases: Practice among primary care providers and awareness among the general public, United States, 2008 | Genetics in Medicine
https://www.nature.com/articles/gim2010131
A US PIDD registry, modeled on existing European PIDD registries, is beginning to gather data on disease diagnosis, therapies, and outcomes. […] These findings provide the first published data describing both PCP practice when treating a patient with potential PIDD and public awareness. Future research efforts should focus on the impact of physician-specific characteristics, and their relationship to a lack of knowledge and awareness about PIDD.
#36 Article – JHPOR
https://www.jhpor.com/article/2080-primary-immunodeficiencies—epidemiology-spending-on-therapy-diagnostic-and-therapeutic-needs-in-poland
Primary immunodeficiencies (PID) are a heterogeneous group of over 300 diseases of the immune system characterised by its disfunction, and in consequence by chronic or recurrent infections, autoimmunity, allergy, neoplastic diseases or autoinflammation (1). […] Based on the epidemiological data on the disease incidence, it can be estimated that ca. 70-80% of PID cases have still not been diagnosed (2). […] The key sources of epidemiological data on PID are patients registers run at both international and national level. The data found in the registers is based exclusively on diagnosed cases and is most often considerably underestimated, mainly due to high percentage of undiagnosed patients in the PID population, but also due to limited number of physicians collecting regularly the clinical data. Ca. 70-80% of PID cases remain undiagnosed and are not entered into patients statistics (2).
#37 About Primary Immunodeficiency (PI) | Primary Immunodeficiency (PI) | CDC
https://www.cdc.gov/primary-immunodeficiency/about/index.html
People with primary immunodeficiency (PI) have an immune system that doesn’t work correctly. This makes them more likely to get and become very sick from infections. […] There are more than 400 types of PI that vary in severity, which affects how early they are detected. […] All states include testing for one type of PI called severe combined immunodeficiency (SCID) as part of newborn screening. […] PI often has an underlying genetic cause and can run in families. […] Early diagnosis can help prevent or delay some of the health problems caused by PI. […] Left untreated, some types of PI can result in serious health problems, including organ damage, and even death. […] Newborn screening for SCID can find babies with this PI early, before they receive these vaccines, so that they are not given these vaccines prior to treatment for SCID. […] Treatments vary, depending on the type of PI, and can include treatments to prevent infections.
#38 Overview of Immunodeficiency Disorders – Immune Disorders – Merck Manual Consumer Version
https://www.merckmanuals.com/home/immune-disorders/immunodeficiency-disorders/overview-of-immunodeficiency-disorders
Many types of cancer can cause an immunodeficiency disorder. For example, any cancer that affects the bone marrow (such as leukemia or lymphoma) can prevent the bone marrow from producing normal white blood cells (B cells and T cells), which are part of the immune system. […] Genetic testing, usually blood tests, may also be done in people whose families are known to carry a gene for a hereditary immunodeficiency disorder. […] Newborns are screened with a blood test that determines whether they have abnormal T cells or too few T cells called the T-cell receptor excision circle (TREC) test. This test can identify some cellular immune deficiencies, such as severe combined immunodeficiency. Identifying infants with severe combined immunodeficiency early can help prevent their death at a young age. TREC testing of all newborns is now required in the United States.
#39 Improving the Detection of Primary Immune Deficiency Diseases for Better Treatment | Institut Pasteur
https://www.pasteur.fr/en/international/international-programs/improving-detection-primary-immune-deficiency-diseases-better-treatment
Primary Immune Deficiency diseases (PIDs) constitute a heterogeneous group of over 300 diseases in which a genetic defect of the immune system leads to an increased susceptibility to infections, sometimes jeopardizing the vital prognosis. […] The lack of awareness among the medical community about these diseases results in them remaining significantly underdiagnosed, both in children and in milder forms in adults. […] Due to the difficulty of making a diagnosis, it is estimated that the majority of Tunisian patients remain undiagnosed or get a late diagnosis. […] The trained personnel were prepared to relay the useful information to their colleagues once returned to their institutions or facilities. […] As a result of the actions of the first phase targeting the Central and Southern regions of the country, the average annual number of confirmed cases increased by 26% compared to previous years.
#40 Article – JHPOR
https://www.jhpor.com/article/2080-primary-immunodeficiencies—epidemiology-spending-on-therapy-diagnostic-and-therapeutic-needs-in-poland
Primary Immunodeficiency is also a financial burden from the point of view of The Social Insurance Institution. In 2015 the spending on benefits related to PID amounted to EUR 2.68 million, including 60%, of the cost of incapacity benefit. What is also noteworthy is that only in 2015 PID was the cause of 5 456 days of absence from work.
#41 Cancer Rates Raised in Patients With Primary Immunodeficiency Diseases
https://www.cancernetwork.com/view/cancer-rates-raised-patients-primary-immunodeficiency-diseases
Patients with primary immunodeficiency diseases are at increased risk of certain cancers, according to a new study. […] The researchers observed a 1.42-fold excess relative risk of cancer in subjects with PIDD compared with the age-adjusted SEER population. […] Overall, there was a 42% increase in cancer incidence among patients with PIDD. […] Two major factors appear to drive increased cancer risk among specific subjects with PIDD: defective DNA repair and failure to provide immune surveillance against chronic viral infections, such as EBV and human papillomavirus, which cause cancer, they stated.
#42 Primary Immunodeficiency Disorders Market Report, 2030
https://www.grandviewresearch.com/industry-analysis/primary-immunodeficiency-disorders-market-report
The global primary immunodeficiency disorders market size was valued at USD 7.15 billion in 2023 and is projected to grow at a CAGR of 6.4% from 2024 to 2030. […] Primary immunodeficiencies (PIDs) affect over 6 million people worldwide, with a significant number-70-90%-remaining undiagnosed. The prevalence of PIDs is about 1 in 10,000 people globally, though this figure is likely an underestimate due to missed diagnoses. […] The vast majority of PIDs are not diagnosed promptly, which can lead to increased vulnerability to infections, autoimmunity, and other serious health issues. […] The challenge of diagnosing PIDs is compounded by the wide range of symptoms and the variety of PID types, making early and accurate identification critical but often difficult. […] The high prevalence and significant undiagnosed rate of primary immunodeficiencies highlights a substantial market opportunity.
#43 Primary Immunodeficiency Disorders Market Report, 2030
https://www.grandviewresearch.com/industry-analysis/primary-immunodeficiency-disorders-market-report
As awareness and diagnostic tools improve, demand for advanced treatments and care solutions is expected to drive substantial growth in the PID industry. […] The level of mergers and acquisitions (MA) activities in the market is moderate to high. […] The market’s growing demand for personalized and effective treatments also fuels MA, as larger firms look to strengthen their competitive positions and expand their market share. […] The regional expansion of the primary immunodeficiency disorders market is marked by increasing international market presence. […] Companies are actively seeking to enter new regions by obtaining regulatory approvals and forming strategic partnerships. […] This global push is driven by rising awareness of primary immunodeficiencies and the growing demand for advanced therapies. […] The competitive scenario in the market is highly competitive, with key players such as Baxter International, CSL Behring, Takeda Pharmaceutical, Octapharma, Biotest, Grifols, and Kedrion Biopharma holding significant positions.
#44 Primary Immunodeficiency Disease (PID) | Takeda U.S. Medical
https://www.takedamedconnect.com/diseases-and-conditions/rare-immunology/primary-immunodeficiency-disease
Primary immunodeficiency disease (PID) refers to a group of mostly inherited conditions that involve impairment of the immune system and require ongoing management. Currently, more than 550 different genetic defects of PID have been identified, often presenting with hallmark recurrent and unusual infections. The actual prevalence remains unclear, but estimates range from 390,000 to 6 million people living with PID worldwide. In the U.S. alone, the prevalence is thought to be as high as 50.5 cases per 100,000 people. Although severe forms are more frequent in infancy and early childhood, the disease may not manifest until later in life in some cases. […] PIDs are significantly underreported, and estimates suggest that 70-90% of patients are undiagnosed worldwide, largely because it is not top of mind.
#45 Primary immunodeficiency diseases: Practice among primary care providers and awareness among the general public, United States, 2008 | Genetics in Medicine
https://www.nature.com/articles/gim2010131
Worldwide, published PIDD prevalence estimates vary widely, ranging from 1:1,200 to 1:400,000 people. […] Variability in prevalence estimates, along with delayed diagnoses, may imply a high rate of underdiagnosis for these conditions. Underdiagnosis of PIDD may be attributable in part to a lack of awareness of these disorders. […] The impact of early recognition has been highlighted by the recent recommendation for the addition of severe combined immune deficiency to the uniform newborn screening panel by the Secretary’s Advisory Committee for Heritable Disorders in Newborns and Children. […] In 2001, CDC hosted a multidisciplinary workshop on PIDD and public health that resulted in recommendations on the four components of the public health framework as they apply to PIDD. One of the recommendations centered on the need for education and communication with health care providers and the public to facilitate prompt and appropriate diagnosis and intervention.
#46 Systematic review of literature and analysis of big data from the National Health Insurance System on primary immunodeficiencies in Korea
https://www.e-cep.org/journal/view.php?doi=10.3345/cep.2019.01347
This article described our systematic review of all reported PID cases in Korea (published in Korean or English) in which we attempted to estimate the number of PID patients and healthcare costs for the first time in Korea using open big data in the national health insurance reimbursement system. Our review revealed that Korean PID cases are greatly underreported in the literature, and based on health insurance data, there are more than 1,000 PID patients in Korea. In addition, there is a definite need for increased awareness and education for the proper use of KCD-7 (the translated version of the ICD-10) for existing or newly discovered PIDs in the reimbursement system. Physicians in the field and health care policymakers should be aware of the disease burden of PID. To better estimate the epidemiology of PID and its disease burden in Korea, a national registry project is warranted at the government level.
#47 Article – JHPOR
https://www.jhpor.com/article/2080-primary-immunodeficiencies—epidemiology-spending-on-therapy-diagnostic-and-therapeutic-needs-in-poland
It is estimated that globally ca. 6 million patients suffer from PID, including ca. 638 000 in EU countries (both diagnosed and undiagnosed cases) (6). […] Scientific publications estimate that in Poland ca. 20 000 individuals suffer from PID, including only 4 000 -5 000 cases that have been diagnosed (7). Based on the number of PID cases reported in the registry of European Society for Immunodeficiencies (ESID) the prevalence rate for Polish population is 1.44/100 000 inhabitants (8). […] The detailed analysis of all the availability of PID diagnostic and therapeutic services in Poland has allowed to identify the main barriers hindering access to them for the patients. […] Another vital aspect is too small number of immunology clinicians and geneticists, which results in longer waiting time for consultations.
#48 Advancing the management of primary immunodeficiency diseases in Latin America: Latin American Society for Immunodeficiencies (LASID) Initiatives | Allergologia et Immunopathologia
https://www.elsevier.es/en-revista-allergologia-et-immunopathologia-105-articulo-advancing-management-primary-immunodeficiency-diseases-S0301054612000456
Improving the lives of patients with PIDD can only be achieved through strong and efficient partnerships among physicians, governments, industry, and patients. Such partnerships have already resulted in the implementation of a large number of programmes aimed at improving the diagnosis and treatment of PIDD in Latin America, including the LASID Online Registry, the LASID fellowship programme, educational and research programmes, guideline development, and pilot PIDD screening projects.
#49 Primary Immunodeficiency | IntechOpen
https://www.intechopen.com/chapters/69597
The International Union of Immunological Societies (IUIS) expert committee, currently named as Inborn Errors of Immunity Committee, has been responsible for issuing the classification of PIDs every other year from 1970. […] Early diagnosis of PID is critical for reducing morbidity or mortality and improving treatment outcomes. […] The laboratory testing is essential to diagnose and delineate the immunologic defects of PIDs. […] Genetic testing plays a critical role in patients with PID in confirming diagnosis, predicting the prognosis, assessing the influences of genotype-phenotype associations, and family planning. […] The recent advances of sequencing technologies have facilitated the genomic assays to become the standard of care in some hospitals although these techniques may face the challenges of cost, accessibility, and interpretation issues.
#50 Primary Immunodeficiency | Boston Children’s Hospital
https://www.childrenshospital.org/conditions/primary-immunodeficiency
The strong immunology research component in our Division helps us treat children with immunodeficiency disorders. We are discovering new disease mechanisms and bringing this research to bear on the diagnosis and treatment of our patients. […] There are more than 180 known kinds of PIDDs. […] The National Institutes of Health recognizes three main stages of treatment for PID: treat existing infections (treatment), avoid further infections (prevention), correct the immunodeficiency (cure). […] Currently, HSCT is the only non-experimental cure available. […] Hematopoietic stem cell transplantation (HSCT) is the only known cure for PID. […] Researcher Narayanaswamy Ramesh, PhD, conducts molecular studies on primary immunodeficiencies.