Materiały źródłowe

• #1 Mastocytosis

  https://pmc.ncbi.nlm.nih.gov/articles/PMC3863935/

  Mastocytosis is a disorder of abnormal mast cell proliferation with clinical features that include flushing, pruritus, abdominal pain, diarrhea, hypotension, syncope and musculoskeletal pain. […] Most patients with systemic disease have a somatically acquired activating mutation in the KIT oncogene. […] Most cases appear to be spontaneous. Inherited patterns of mastocytosis are unusual. […] Activating somatic mutations in c-kit that encodes for KIT, have been detected in the bone marrow as well as skin and peripheral blood cells in patients with mastocytosis. […] The most common somatic mutation, Asp816Val (D816V), is located in catalytic domain of KIT and results in augmented mast cell proliferation and survival. […] A subgroup of patients that present with hypereosinophillic syndrome have the FIP1L1/PDGRFA fusion tyrosine kinase, which can be found in multiple cell lineages including mast cells and eosinophils. This genetic abnormality is associated with increased mast cells in the bone marrow, an elevated tryptase and peripheral eosinophilia, thus highlighting a role for non-KIT dependent pathways in the pathogenesis of mastocytosis.

• #2 Systemic Mastocytosis

  https://www.aaaai.org/conditions-treatments/related-conditions/systemic-mastocytosis

  Mastocytosis is a disorder in which abnormal mast cells are increased in one or more organs. […] Mutations in KIT that keep the switch ON are the cause of mastocytosis. […] The most common mutation, called KIT D816V, produces a receptor that is constantly activated resulting in continuous growth and activation of mast cells. […] In addition to the increase in mediators as the result of increased numbers, abnormal mast cells in mastocytosis can be prone to release mediators more easily in general. […] Mastocytosis can occur in both children and adults, with a predominance for cutaneous mastocytosis in children and systemic mastocytosis in adults. […] Most adult patients with cutaneous mastocytosis also have other organs involved (unlike the case in most children). […] The diagnosis of systemic mastocytosis is determined by criteria established by the World Health Organization consensus group and requires meeting the major criterion plus one minor criterion or, alternatively, three of the minor criteria.

• #3 Systemic Mastocytosis – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK544345/

  Mast cells are immune cells derived from myeloid lineage. They are usually located in the connective tissues. They are activated through immunoglobulin (Ig)E mediated and non-IgE mechanisms and thus act as effector cells in hypersensitivity and allergic reactions. In the IgE mediated mechanism, the allergen forms a cross-link with the IgE receptor, which then activates the mast cells, resulting in degranulation. Non-IgE mediated mechanisms include emotional and physical stimuli, food, drugs like opioids and nonsteroidal anti-inflammatory drugs (NSAIDs), alcohol, heat, exercise, cytokines, venoms, and hormones. The most common mediators released are histamines, proteases, cytokines, growth hormones, tumor necrosis factors, and phospholipases. Tryptases and chymases form an abundant portion of the mast cell granules. Tryptase is almost always secreted by mast cells and therefore it is used as an important diagnostic factor.

• #4 Systemic mastocytosis – Symptoms and causes – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/systemic-mastocytosis/symptoms-causes/syc-20352859

  Most cases of systemic mastocytosis are caused by a random change (mutation) in the KIT gene. Typically this flaw in the KIT gene is not inherited. […] Too many mast cells are produced and build up in tissues and body organs, releasing substances such as histamine, leukotrienes and cytokines that cause inflammation and symptoms.

• #5 Mastocytosis Causes, Symptoms, Prevention & Treatment

  https://medrechospital.com/atozdetail/mastocytosis

  A random alteration (mutation) in the KIT gene is what causes the majority of instances of systemic mastocytosis. […] Usually, this KIT gene defect is not inherited. Mast cells are created in excess and accumulate in bodily tissues and organs, where they release chemicals like histamine, leukotrienes, and cytokines that lead to inflammation and discomfort.

• #6 Systemic mastocytosis: MedlinePlus GeneticsLock

  https://medlineplus.gov/genetics/condition/systemic-mastocytosis/

  Systemic mastocytosis occurs when white blood cells called mast cells, which are produced in bone marrow, abnormally accumulate in one or more tissues. In most cases of systemic mastocytosis, the accumulated mast cells have a mutation in a gene called KIT. The KIT gene provides instructions for making a protein that plays an important role in development and activity of mast cells. The KIT protein stimulates chemical signaling pathways that are involved in the growth and division (proliferation) of many types of cells, including mast cells. In systemic mastocytosis, KIT gene mutations are somatic, which means they are acquired during a person’s lifetime. These mutations result in a KIT protein that is always turned on (activated). As a result, signaling pathways are overactive, leading to increased production and accumulation of mast cells.

• #7

  https://111.wales.nhs.uk/mastocytosis/

  Mastocytosis is a rare condition caused by an excess number of mast cells gathering in the body’s tissues. […] The cause or causes of mastocytosis are not fully known, but there’s thought to be an association with a change in genes known as the KIT mutation. […] The KIT mutation makes the mast cells more sensitive to the effects of a signalling protein called stem cell factor (SCF). […] In a very few cases of mastocytosis it appears the KIT mutation is passed down through families. However, in most cases the mutation happens for no apparent reason.

• #8 Mastocytosis

  https://pmc.ncbi.nlm.nih.gov/articles/PMC3863935/

  Mastocytosis is a disorder of abnormal mast cell proliferation with clinical features that include flushing, pruritus, abdominal pain, diarrhea, hypotension, syncope and musculoskeletal pain. […] Most patients with systemic disease have a somatically acquired activating mutation in the KIT oncogene. […] Most cases appear to be spontaneous. Inherited patterns of mastocytosis are unusual. […] Activating somatic mutations in c-kit that encodes for KIT, have been detected in the bone marrow as well as skin and peripheral blood cells in patients with mastocytosis. […] The most common somatic mutation, Asp816Val (D816V), is located in catalytic domain of KIT and results in augmented mast cell proliferation and survival. […] A subgroup of patients that present with hypereosinophillic syndrome have the FIP1L1/PDGRFA fusion tyrosine kinase, which can be found in multiple cell lineages including mast cells and eosinophils. This genetic abnormality is associated with increased mast cells in the bone marrow, an elevated tryptase and peripheral eosinophilia, thus highlighting a role for non-KIT dependent pathways in the pathogenesis of mastocytosis.

• #9 Systemic Mastocytosis

  https://www.aaaai.org/conditions-treatments/related-conditions/systemic-mastocytosis

  Mastocytosis is a disorder in which abnormal mast cells are increased in one or more organs. […] Mutations in KIT that keep the switch ON are the cause of mastocytosis. […] The most common mutation, called KIT D816V, produces a receptor that is constantly activated resulting in continuous growth and activation of mast cells. […] In addition to the increase in mediators as the result of increased numbers, abnormal mast cells in mastocytosis can be prone to release mediators more easily in general. […] Mastocytosis can occur in both children and adults, with a predominance for cutaneous mastocytosis in children and systemic mastocytosis in adults. […] Most adult patients with cutaneous mastocytosis also have other organs involved (unlike the case in most children). […] The diagnosis of systemic mastocytosis is determined by criteria established by the World Health Organization consensus group and requires meeting the major criterion plus one minor criterion or, alternatively, three of the minor criteria.

• #10 Mastocytosis

  https://pmc.ncbi.nlm.nih.gov/articles/PMC3863935/

  Mastocytosis is a disorder of abnormal mast cell proliferation with clinical features that include flushing, pruritus, abdominal pain, diarrhea, hypotension, syncope and musculoskeletal pain. […] Most patients with systemic disease have a somatically acquired activating mutation in the KIT oncogene. […] Most cases appear to be spontaneous. Inherited patterns of mastocytosis are unusual. […] Activating somatic mutations in c-kit that encodes for KIT, have been detected in the bone marrow as well as skin and peripheral blood cells in patients with mastocytosis. […] The most common somatic mutation, Asp816Val (D816V), is located in catalytic domain of KIT and results in augmented mast cell proliferation and survival. […] A subgroup of patients that present with hypereosinophillic syndrome have the FIP1L1/PDGRFA fusion tyrosine kinase, which can be found in multiple cell lineages including mast cells and eosinophils. This genetic abnormality is associated with increased mast cells in the bone marrow, an elevated tryptase and peripheral eosinophilia, thus highlighting a role for non-KIT dependent pathways in the pathogenesis of mastocytosis.

• #11 Mastocytosis: Symptoms, Causes, and Treatment

  https://resources.healthgrades.com/right-care/allergies/mastocytosis

  Mastocytosis usually occurs as a result of mutations in the KIT gene. This gene regulates the growth and survival of mast cells. A mutation in this gene stimulates the growth and division of mast cells. This leads to their excessive accumulation in mastocytosis. […] The most common mutation is D816V. More than 90% of adults and 40% of children with mastocytosis have this mutation. […] People do not inherit or pass on the mutations that cause mastocytosis. Instead, these are acquired mutations that have formed during the person’s lifetime. […] Typically, mast cells release their chemicals in response to an allergic or another immune system trigger. In mastocytosis, however, the increased number of mast cells leads to a massive release of chemicals in response to these allergens.

• #12 What is Indolent Systemic Mastocytosis | AYVAKIT® (avapritinib)

  https://ayvakit.com/indolent-systemic-mastocytosis/about-ism/

  In about 95% of cases, ISM is thought to be caused by a gene mutation called KIT D816V. […] A KIT D816V blood test may be helpful to aid in the diagnosis of patients who are being evaluated for ISM. Since the gene mutation is found in approximately 95% of ISM cases, measurement of this genetic marker can help screen for ISM.

• #13 Systemic Mastocytosis: Practice Essentials, Background, Pathophysiology

  https://emedicine.medscape.com/article/203948-overview

  Mutations of the c-kit proto-oncogene may cause some forms of mastocytosis. […] Several types of somatic activating and nonactivating mutations in c-kit have been demonstrated to cause systemic mastocytosis. One of the common mutations found in systemic mastocytosis is an exon 17 D816V KIT receptor mutation. Most, if not all, adult patients with systemic mastocytosis carry this mutation. […] In the majority of patients, mastocytosis does not appear to be inherited, but rare familial cases with KIT mutations have been reported.

• #14 Systemic Mastocytosis – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK544345/

  Activating and inactivating mutations of KIT are implicated in the pathogenesis of systemic mastocytosis. The precise mechanism by which KIT-activating mutations improve signaling is not thoroughly understood, but these errors lead to stem cell factor (SCF)-independent activation. KITD816V is the most common driver mutation for systemic mastocytosis. KIT mutations are mostly somatic, so they don’t seem to be inherited although, they might be present at birth. They are rarely present in the germline cells, hence not passed down to the next generation. FIP1L1-PDGFRA mutation is associated with eosinophilia. Other mutations, namely TET2, IgE, JAK2V617F, and RAS, have associations with systemic mastocytosis as well.

• #15

  https://www.nhs.uk/conditions/mastocytosis/

  Mastocytosis is a rare condition caused by an excess number of mast cells gathering in the body’s tissues. […] The cause or causes of mastocytosis are not fully known, but there’s thought to be an association with a change in genes known as the KIT mutation. […] The KIT mutation makes the mast cells more sensitive to the effects of a signalling protein called stem cell factor (SCF). […] In very few cases of mastocytosis it appears the KIT mutation is passed down through families. However, in most cases the mutation happens for no apparent reason.

• #16 Systemic Mastocytosis: Symptoms, Causes & Treatment

  https://my.clevelandclinic.org/health/diseases/24386-systemic-mastocytosis

  Systemic mastocytosis is a type of mastocytosis a rare blood disorder that happens when your body makes abnormal mast cells. […] Research shows about 80% of people with systemic mastocytosis have a KIT gene variant (change). KIT genes play a role in developing certain cell types, including blood cells and mast cells. The gene change happens after conception and isnt hereditary. […] Systemic mastocytosis happens when you have the genetic change that causes it. That means you cant prevent it.

• #17 Systemic Mastocytosis: Causes, Symptoms, Diagnosis, and Treatment

  https://www.webmd.com/allergies/systemic-mastocytosis

  Systemic mastocytosis doesn’t usually run in families. A random change (mutation) in the KIT gene shows up in mast cells in people with mastocytosis. This gene helps program a protein that’s in charge of how cells grow. It also plays a role in the way mast cells develop. […] If you have systemic mastocytosis, certain triggers cause mast cells to release chemicals and cause symptoms. They aren’t the same for everyone, but common triggers include: Alcohol, Spicy foods, Changes in temperature, Insect stings, Stress or anxiety, Surgery, Vaccines, Certain medicines, such as aspirin, opioids, and non-steroidal anti-inflammatory drugs (NSAIDs). […] It’s also possible to get symptoms without any triggers.

• #18 Mastocytosis | Quirónsalud

  https://www.quironsalud.com/en/diseases-symptoms/mastocytosis

  Mastocytosis causes the proliferation of mast cells, a type of white blood cell found in the body’s connective tissues that help defend the body against allergies or inflammation. […] The primary cause of mastocytosis is a mutation in the KIT gene on chromosome 4. This genetic alteration is spontaneous and has no hereditary origin. […] Since it is caused by a spontaneous genetic mutation, this disease can affect all types of individuals.

• #19 Mastocytosis

  https://www.rch.org.au/kidsinfo/fact_sheets/mastocytosis/

  Mastocytosis is a mostly harmless condition where a greater number of mast cells than normal build up in parts of the body. […] The cause of mastocytosis is not known. A problem with a gene has been found in some patients, but mastocytosis is not usually passed on from one generation to the next. It is not contagious, and is not spread by contact with other people. […] Mastocytosis can’t be caught by others and is not usually passed on from one generation to the next.

• #20 Mastocytosis — DermNet

  https://dermnetnz.org/topics/mastocytosis

  Mastocytosis is caused by a mutation of the KIT gene on the 4q12 chromosome. This results in too many mast cells being produced. […] In rare cases, the KIT genetic defect is inherited. In most cases, it is sporadic, with no family history.

• #21 What is Systemic Mastocytosis – David Chermol

  https://myphiladelphiadisabilitylawyer.com/disabling-conditions/systemic-mastocytosis/

  Most types of this condition are thought to be caused by a mutation of the KIT gene. There are certain mutations of this gene that overproduce mast cells and in case of this condition, the cells overproduce in tissues and organs. […] This condition is not typically caused by genetics, but in rare cases it can be passed down by a family member. A person with this condition has a 50% chance of passing the condition down to each child they bear.

• #22 Mastocytosis

  https://pmc.ncbi.nlm.nih.gov/articles/PMC3863935/

  Mastocytosis is a disorder of abnormal mast cell proliferation with clinical features that include flushing, pruritus, abdominal pain, diarrhea, hypotension, syncope and musculoskeletal pain. […] Most patients with systemic disease have a somatically acquired activating mutation in the KIT oncogene. […] Most cases appear to be spontaneous. Inherited patterns of mastocytosis are unusual. […] Activating somatic mutations in c-kit that encodes for KIT, have been detected in the bone marrow as well as skin and peripheral blood cells in patients with mastocytosis. […] The most common somatic mutation, Asp816Val (D816V), is located in catalytic domain of KIT and results in augmented mast cell proliferation and survival. […] A subgroup of patients that present with hypereosinophillic syndrome have the FIP1L1/PDGRFA fusion tyrosine kinase, which can be found in multiple cell lineages including mast cells and eosinophils. This genetic abnormality is associated with increased mast cells in the bone marrow, an elevated tryptase and peripheral eosinophilia, thus highlighting a role for non-KIT dependent pathways in the pathogenesis of mastocytosis.

• #23 Systemic Mastocytosis – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK544345/

  Activating and inactivating mutations of KIT are implicated in the pathogenesis of systemic mastocytosis. The precise mechanism by which KIT-activating mutations improve signaling is not thoroughly understood, but these errors lead to stem cell factor (SCF)-independent activation. KITD816V is the most common driver mutation for systemic mastocytosis. KIT mutations are mostly somatic, so they don’t seem to be inherited although, they might be present at birth. They are rarely present in the germline cells, hence not passed down to the next generation. FIP1L1-PDGFRA mutation is associated with eosinophilia. Other mutations, namely TET2, IgE, JAK2V617F, and RAS, have associations with systemic mastocytosis as well.

• #24 Mastocytosis

  https://pmc.ncbi.nlm.nih.gov/articles/PMC3863935/

  Mastocytosis is a disorder of abnormal mast cell proliferation with clinical features that include flushing, pruritus, abdominal pain, diarrhea, hypotension, syncope and musculoskeletal pain. […] Most patients with systemic disease have a somatically acquired activating mutation in the KIT oncogene. […] Most cases appear to be spontaneous. Inherited patterns of mastocytosis are unusual. […] Activating somatic mutations in c-kit that encodes for KIT, have been detected in the bone marrow as well as skin and peripheral blood cells in patients with mastocytosis. […] The most common somatic mutation, Asp816Val (D816V), is located in catalytic domain of KIT and results in augmented mast cell proliferation and survival. […] A subgroup of patients that present with hypereosinophillic syndrome have the FIP1L1/PDGRFA fusion tyrosine kinase, which can be found in multiple cell lineages including mast cells and eosinophils. This genetic abnormality is associated with increased mast cells in the bone marrow, an elevated tryptase and peripheral eosinophilia, thus highlighting a role for non-KIT dependent pathways in the pathogenesis of mastocytosis.

• #25 Systemic Mastocytosis – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK544345/

  Activating and inactivating mutations of KIT are implicated in the pathogenesis of systemic mastocytosis. The precise mechanism by which KIT-activating mutations improve signaling is not thoroughly understood, but these errors lead to stem cell factor (SCF)-independent activation. KITD816V is the most common driver mutation for systemic mastocytosis. KIT mutations are mostly somatic, so they don’t seem to be inherited although, they might be present at birth. They are rarely present in the germline cells, hence not passed down to the next generation. FIP1L1-PDGFRA mutation is associated with eosinophilia. Other mutations, namely TET2, IgE, JAK2V617F, and RAS, have associations with systemic mastocytosis as well.

• #26 Systemic mastocytosis: MedlinePlus GeneticsLock

  https://medlineplus.gov/genetics/condition/systemic-mastocytosis/

  Mutations in additional genes seem to modify the severity of systemic mastocytosis, often resulting in a more aggressive disease and shorter survival. These genes primarily play roles in controlling the proliferation of cells or regulating the activity of other genes that are important in development.

• #27

  https://www.archivesofmedicalscience.com/Diarrhea-predominant-irritable-bowel-syndrome-as-a-masquerade-for-systemic-mastocytosis,176943,0,2.html

  Systemic mastocytosis (SM) is a malignant hematological condition characterized by abnormal mast cell proliferation and accumulation of the extracutaneous organs, including the gastrointestinal tract, bone marrow, liver, and spleen. […] The molecular pathophysiology of SM is not entirely understood; however, 90% of cases are linked to KIT genetic defects, most frequently the KIT D816V mutation. […] Involvement of clonal mast cells in the gastrointestinal tract in SM can result in significant alterations in bowel habits and IBS-D. […] Mast cell aggregation in the gastrointestinal mucosa, even in the absence of SM, is one of the causes of diarrhea. […] The presence of multiple concurrent mutations, such as ASXL1, RUNX1, SRSF1, and NRAS, is linked to SM-associated myeloid neoplasms. […] KIT D816V is a somatic mutation that drives the development of SM.

• #28 Systemic mastocytosis: MedlinePlus GeneticsLock

  https://medlineplus.gov/genetics/condition/systemic-mastocytosis/

  Mutations in additional genes seem to modify the severity of systemic mastocytosis, often resulting in a more aggressive disease and shorter survival. These genes primarily play roles in controlling the proliferation of cells or regulating the activity of other genes that are important in development.

• #29 Systemic Mastocytosis

  https://www.aaaai.org/conditions-treatments/related-conditions/systemic-mastocytosis

  In addition to the initial diagnosis, systemic mastocytosis is divided into subtypes determined by findings such as the amount of organ infiltration by mast cells (mast cell burden), presence or absence of other blood malignancies, and organ involvement with mast cell related damage such as enlarged liver, spleen or lymph nodes, or bone damage. […] Determining the subgroup helps in directing therapy and establishing prognosis. […] Most adult patients fit into the indolent systemic mastocytosis category. […] Indolent systemic mastocytosis patients have a low risk of progression to more severe disease, while the risk of progression to more severe disease is higher for Smoldering systemic mastocytosis patients. […] More aggressive forms of systemic mastocytosis may require interferon, immune modulators or chemotherapeutic agents.

• #30

  https://www.archivesofmedicalscience.com/Diarrhea-predominant-irritable-bowel-syndrome-as-a-masquerade-for-systemic-mastocytosis,176943,0,2.html

  Systemic mastocytosis (SM) is a malignant hematological condition characterized by abnormal mast cell proliferation and accumulation of the extracutaneous organs, including the gastrointestinal tract, bone marrow, liver, and spleen. […] The molecular pathophysiology of SM is not entirely understood; however, 90% of cases are linked to KIT genetic defects, most frequently the KIT D816V mutation. […] Involvement of clonal mast cells in the gastrointestinal tract in SM can result in significant alterations in bowel habits and IBS-D. […] Mast cell aggregation in the gastrointestinal mucosa, even in the absence of SM, is one of the causes of diarrhea. […] The presence of multiple concurrent mutations, such as ASXL1, RUNX1, SRSF1, and NRAS, is linked to SM-associated myeloid neoplasms. […] KIT D816V is a somatic mutation that drives the development of SM.

• #31 Mastocytosis and Mast Cell Activation Syndrome – Immunology; Allergic Disorders – Merck Manual Professional Edition

  https://www.merckmanuals.com/professional/immunology-allergic-disorders/allergic-autoimmune-and-other-hypersensitivity-disorders/mastocytosis-and-mast-cell-activation-syndrome

  Etiology in many cases of mastocytosis involves an activating mutation (D816V) in the gene coding for the stem cell factor receptor c-kit, which is present on mast cells. The result is autophosphorylation of the receptor, which causes uncontrolled mast cell proliferation. […] Genetic causes are suspected but not proved. Most cases do not involve clonal proliferation of mast cells but are due to a lower threshold for mast cells to degranulate.

• #32 Systemic mastocytosis: MedlinePlus GeneticsLock

  https://medlineplus.gov/genetics/condition/systemic-mastocytosis/

  Systemic mastocytosis occurs when white blood cells called mast cells, which are produced in bone marrow, abnormally accumulate in one or more tissues. In most cases of systemic mastocytosis, the accumulated mast cells have a mutation in a gene called KIT. The KIT gene provides instructions for making a protein that plays an important role in development and activity of mast cells. The KIT protein stimulates chemical signaling pathways that are involved in the growth and division (proliferation) of many types of cells, including mast cells. In systemic mastocytosis, KIT gene mutations are somatic, which means they are acquired during a person’s lifetime. These mutations result in a KIT protein that is always turned on (activated). As a result, signaling pathways are overactive, leading to increased production and accumulation of mast cells.

• #33 Systemic Mastocytosis

  https://www.aaaai.org/conditions-treatments/related-conditions/systemic-mastocytosis

  Mastocytosis is a disorder in which abnormal mast cells are increased in one or more organs. […] Mutations in KIT that keep the switch ON are the cause of mastocytosis. […] The most common mutation, called KIT D816V, produces a receptor that is constantly activated resulting in continuous growth and activation of mast cells. […] In addition to the increase in mediators as the result of increased numbers, abnormal mast cells in mastocytosis can be prone to release mediators more easily in general. […] Mastocytosis can occur in both children and adults, with a predominance for cutaneous mastocytosis in children and systemic mastocytosis in adults. […] Most adult patients with cutaneous mastocytosis also have other organs involved (unlike the case in most children). […] The diagnosis of systemic mastocytosis is determined by criteria established by the World Health Organization consensus group and requires meeting the major criterion plus one minor criterion or, alternatively, three of the minor criteria.

• #34 Mastocytosis

  https://pmc.ncbi.nlm.nih.gov/articles/PMC3863935/

  Mastocytosis is a disorder of abnormal mast cell proliferation with clinical features that include flushing, pruritus, abdominal pain, diarrhea, hypotension, syncope and musculoskeletal pain. […] Most patients with systemic disease have a somatically acquired activating mutation in the KIT oncogene. […] Most cases appear to be spontaneous. Inherited patterns of mastocytosis are unusual. […] Activating somatic mutations in c-kit that encodes for KIT, have been detected in the bone marrow as well as skin and peripheral blood cells in patients with mastocytosis. […] The most common somatic mutation, Asp816Val (D816V), is located in catalytic domain of KIT and results in augmented mast cell proliferation and survival. […] A subgroup of patients that present with hypereosinophillic syndrome have the FIP1L1/PDGRFA fusion tyrosine kinase, which can be found in multiple cell lineages including mast cells and eosinophils. This genetic abnormality is associated with increased mast cells in the bone marrow, an elevated tryptase and peripheral eosinophilia, thus highlighting a role for non-KIT dependent pathways in the pathogenesis of mastocytosis.

• #35

  https://www.nhs.uk/conditions/mastocytosis/

  Mastocytosis is a rare condition caused by an excess number of mast cells gathering in the body’s tissues. […] The cause or causes of mastocytosis are not fully known, but there’s thought to be an association with a change in genes known as the KIT mutation. […] The KIT mutation makes the mast cells more sensitive to the effects of a signalling protein called stem cell factor (SCF). […] In very few cases of mastocytosis it appears the KIT mutation is passed down through families. However, in most cases the mutation happens for no apparent reason.

• #36

  https://111.wales.nhs.uk/mastocytosis/

  Mastocytosis is a rare condition caused by an excess number of mast cells gathering in the body’s tissues. […] The cause or causes of mastocytosis are not fully known, but there’s thought to be an association with a change in genes known as the KIT mutation. […] The KIT mutation makes the mast cells more sensitive to the effects of a signalling protein called stem cell factor (SCF). […] In a very few cases of mastocytosis it appears the KIT mutation is passed down through families. However, in most cases the mutation happens for no apparent reason.

• #37 Systemic Mastocytosis: Causes, Symptoms, Diagnosis, and Treatment

  https://www.webmd.com/allergies/systemic-mastocytosis

  Systemic mastocytosis doesn’t usually run in families. A random change (mutation) in the KIT gene shows up in mast cells in people with mastocytosis. This gene helps program a protein that’s in charge of how cells grow. It also plays a role in the way mast cells develop. […] If you have systemic mastocytosis, certain triggers cause mast cells to release chemicals and cause symptoms. They aren’t the same for everyone, but common triggers include: Alcohol, Spicy foods, Changes in temperature, Insect stings, Stress or anxiety, Surgery, Vaccines, Certain medicines, such as aspirin, opioids, and non-steroidal anti-inflammatory drugs (NSAIDs). […] It’s also possible to get symptoms without any triggers.

• #38 Mastocytosis: What It Is and How It’s Diagnosed and Treated | AAFP

  https://www.aafp.org/pubs/afp/issues/1999/0601/p3059.html

  Mastocytosis is a rare disease of the skin (the most common form), or of other parts of the body (very rare), like the stomach, the intestines and the bone marrow. It’s caused by having too many mast cells. […] We don’t know what causes mastocytosis. We do know some things that trigger the release of histamine and cause symptoms. Symptoms may be triggered by cold or heat, certain medicines, emotional stress and insect bites. The triggers aren’t the same in every person.

• #39

  https://www.singhealth.com.sg/patient-care/conditions-treatments/mastocytosis

  Mastocytosis refers to a group of diseases caused by accumulation of mast cells (a type of white blood cell) in the skin and, rarely, other organs of the body. […] Potential Triggers of Mast Cell Degranulation and Histamine Release: Physical: Exercise, hot baths, hot beverages, extreme temperatures (heat/ cold), sunlight, emotional stress, friction. […] Medications (always inform your doctor beforehand that you/ your child has mastocytosis): Systemic: Aspirin, NSAIDs, morphine, opiates, codeine, dextromethorphan, amphotericin B, quinine, vancomycin, thiamine. […] Venoms: Snakebites, bee stings, jellyfish stings. […] Foods: Monosodium glutamate (MSG), shellfish, chocolate, tomatoes, citrus fruits, alcohol, artificial food dyes and flavourings.

• #40 Systemic Mastocytosis – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK544345/

  Mast cells are immune cells derived from myeloid lineage. They are usually located in the connective tissues. They are activated through immunoglobulin (Ig)E mediated and non-IgE mechanisms and thus act as effector cells in hypersensitivity and allergic reactions. In the IgE mediated mechanism, the allergen forms a cross-link with the IgE receptor, which then activates the mast cells, resulting in degranulation. Non-IgE mediated mechanisms include emotional and physical stimuli, food, drugs like opioids and nonsteroidal anti-inflammatory drugs (NSAIDs), alcohol, heat, exercise, cytokines, venoms, and hormones. The most common mediators released are histamines, proteases, cytokines, growth hormones, tumor necrosis factors, and phospholipases. Tryptases and chymases form an abundant portion of the mast cell granules. Tryptase is almost always secreted by mast cells and therefore it is used as an important diagnostic factor.

• #41

  https://www.singhealth.com.sg/patient-care/conditions-treatments/mastocytosis

  Mastocytosis refers to a group of diseases caused by accumulation of mast cells (a type of white blood cell) in the skin and, rarely, other organs of the body. […] Potential Triggers of Mast Cell Degranulation and Histamine Release: Physical: Exercise, hot baths, hot beverages, extreme temperatures (heat/ cold), sunlight, emotional stress, friction. […] Medications (always inform your doctor beforehand that you/ your child has mastocytosis): Systemic: Aspirin, NSAIDs, morphine, opiates, codeine, dextromethorphan, amphotericin B, quinine, vancomycin, thiamine. […] Venoms: Snakebites, bee stings, jellyfish stings. […] Foods: Monosodium glutamate (MSG), shellfish, chocolate, tomatoes, citrus fruits, alcohol, artificial food dyes and flavourings.

• #42

  https://www.singhealth.com.sg/patient-care/conditions-treatments/mastocytosis

  Mastocytosis refers to a group of diseases caused by accumulation of mast cells (a type of white blood cell) in the skin and, rarely, other organs of the body. […] Potential Triggers of Mast Cell Degranulation and Histamine Release: Physical: Exercise, hot baths, hot beverages, extreme temperatures (heat/ cold), sunlight, emotional stress, friction. […] Medications (always inform your doctor beforehand that you/ your child has mastocytosis): Systemic: Aspirin, NSAIDs, morphine, opiates, codeine, dextromethorphan, amphotericin B, quinine, vancomycin, thiamine. […] Venoms: Snakebites, bee stings, jellyfish stings. […] Foods: Monosodium glutamate (MSG), shellfish, chocolate, tomatoes, citrus fruits, alcohol, artificial food dyes and flavourings.

• #43 Systemic Mastocytosis – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK544345/

  Mast cells are immune cells derived from myeloid lineage. They are usually located in the connective tissues. They are activated through immunoglobulin (Ig)E mediated and non-IgE mechanisms and thus act as effector cells in hypersensitivity and allergic reactions. In the IgE mediated mechanism, the allergen forms a cross-link with the IgE receptor, which then activates the mast cells, resulting in degranulation. Non-IgE mediated mechanisms include emotional and physical stimuli, food, drugs like opioids and nonsteroidal anti-inflammatory drugs (NSAIDs), alcohol, heat, exercise, cytokines, venoms, and hormones. The most common mediators released are histamines, proteases, cytokines, growth hormones, tumor necrosis factors, and phospholipases. Tryptases and chymases form an abundant portion of the mast cell granules. Tryptase is almost always secreted by mast cells and therefore it is used as an important diagnostic factor.

• #44 Systemic Mastocytosis

  https://www.aaaai.org/conditions-treatments/related-conditions/systemic-mastocytosis

  Mastocytosis is a disorder in which abnormal mast cells are increased in one or more organs. […] Mutations in KIT that keep the switch ON are the cause of mastocytosis. […] The most common mutation, called KIT D816V, produces a receptor that is constantly activated resulting in continuous growth and activation of mast cells. […] In addition to the increase in mediators as the result of increased numbers, abnormal mast cells in mastocytosis can be prone to release mediators more easily in general. […] Mastocytosis can occur in both children and adults, with a predominance for cutaneous mastocytosis in children and systemic mastocytosis in adults. […] Most adult patients with cutaneous mastocytosis also have other organs involved (unlike the case in most children). […] The diagnosis of systemic mastocytosis is determined by criteria established by the World Health Organization consensus group and requires meeting the major criterion plus one minor criterion or, alternatively, three of the minor criteria.

• #45 Mastocytosis: Symptoms, Causes, and Treatment

  https://resources.healthgrades.com/right-care/allergies/mastocytosis

  Mastocytosis usually occurs as a result of mutations in the KIT gene. This gene regulates the growth and survival of mast cells. A mutation in this gene stimulates the growth and division of mast cells. This leads to their excessive accumulation in mastocytosis. […] The most common mutation is D816V. More than 90% of adults and 40% of children with mastocytosis have this mutation. […] People do not inherit or pass on the mutations that cause mastocytosis. Instead, these are acquired mutations that have formed during the person’s lifetime. […] Typically, mast cells release their chemicals in response to an allergic or another immune system trigger. In mastocytosis, however, the increased number of mast cells leads to a massive release of chemicals in response to these allergens.

• #46 What is Mastocytosis? Types, Symptoms, and Treatment – Allergy & Asthma Network

  https://allergyasthmanetwork.org/mast-cell-diseases/mastocytosis/

  Mastocytosis is a rare disorder and a type of mast cell disease. It is a condition in which there are too many mast cells in the body. […] Mastocytosis is often associated with changes to the KIT gene. These changes contribute to uncontrolled mast cell buildup in the body. In adults, the most common change is to the D816V mutation, a tyrosine kinase receptor that is a key feature of mastocytosis. Other changes to this gene may contribute to mastocytosis in children. […] Mastocytosis is a mast cell disorder that involves the abnormal buildup of mast cells. It occurs in body organs and tissues, such as the skin, bone marrow, heart, respiratory system, liver, spleen and the digestive tract. The buildup leads to symptoms and can progress to serious disease. […] Tyrosine kinase inhibitors are designed to help control mast cell disease and stop symptoms before they start. The medications work by blocking the proteins that cause the abnormal buildup of mast cells. Older medications inhibit many tyrosine kinases. Some newer medications can now inhibit only the mutated KIT D816V, which occurs in about 90% of adult systemic mastocytosis patients. These medications effectively turn off mast cells. They can stop or limit histamine release.

• #47 Systemic Mastocytosis

  https://www.aaaai.org/conditions-treatments/related-conditions/systemic-mastocytosis

  Mastocytosis is a disorder in which abnormal mast cells are increased in one or more organs. […] Mutations in KIT that keep the switch ON are the cause of mastocytosis. […] The most common mutation, called KIT D816V, produces a receptor that is constantly activated resulting in continuous growth and activation of mast cells. […] In addition to the increase in mediators as the result of increased numbers, abnormal mast cells in mastocytosis can be prone to release mediators more easily in general. […] Mastocytosis can occur in both children and adults, with a predominance for cutaneous mastocytosis in children and systemic mastocytosis in adults. […] Most adult patients with cutaneous mastocytosis also have other organs involved (unlike the case in most children). […] The diagnosis of systemic mastocytosis is determined by criteria established by the World Health Organization consensus group and requires meeting the major criterion plus one minor criterion or, alternatively, three of the minor criteria.

• #48 What is Indolent Systemic Mastocytosis | AYVAKIT® (avapritinib)

  https://ayvakit.com/indolent-systemic-mastocytosis/about-ism/

  In about 95% of cases, ISM is thought to be caused by a gene mutation called KIT D816V. […] A KIT D816V blood test may be helpful to aid in the diagnosis of patients who are being evaluated for ISM. Since the gene mutation is found in approximately 95% of ISM cases, measurement of this genetic marker can help screen for ISM.

• #49 Mastocytosis: Background, Pathophysiology, Etiology

  https://emedicine.medscape.com/article/1057932-overview

  Mastocytosis probably is a hyperplastic response to an abnormal stimulus. Rare cases of familial urticaria pigmentosa have been recorded. […] Rarer cases of cutaneous mastocytosis have been associated with radiotherapy fields in patients with breast cancer. […] One case report describes an apparent temporal association between the development of cutaneous mastocytosis and HIV seroconversion, proposing similarities of immunoglobulin E receptors on mast cells and basophils and the association of basophils in HIV pathophysiology. […] Autism spectrum disorders may be increased in children with mastocytosis.

• #50 Mastocytosis: Background, Pathophysiology, Etiology

  https://emedicine.medscape.com/article/1057932-overview

  Mastocytosis probably is a hyperplastic response to an abnormal stimulus. Rare cases of familial urticaria pigmentosa have been recorded. […] Rarer cases of cutaneous mastocytosis have been associated with radiotherapy fields in patients with breast cancer. […] One case report describes an apparent temporal association between the development of cutaneous mastocytosis and HIV seroconversion, proposing similarities of immunoglobulin E receptors on mast cells and basophils and the association of basophils in HIV pathophysiology. […] Autism spectrum disorders may be increased in children with mastocytosis.

• #51 Mastocytosis: Background, Pathophysiology, Etiology

  https://emedicine.medscape.com/article/1057932-overview

  Mastocytosis probably is a hyperplastic response to an abnormal stimulus. Rare cases of familial urticaria pigmentosa have been recorded. […] Rarer cases of cutaneous mastocytosis have been associated with radiotherapy fields in patients with breast cancer. […] One case report describes an apparent temporal association between the development of cutaneous mastocytosis and HIV seroconversion, proposing similarities of immunoglobulin E receptors on mast cells and basophils and the association of basophils in HIV pathophysiology. […] Autism spectrum disorders may be increased in children with mastocytosis.

• #52 Understanding Mastocytosis: Triggers and Causes – BLDG Active

  https://www.bldgactive.com/blog-understanding-mastocytosis-triggers-and-causes/?srsltid=AfmBOoqD5xdjbqx35Jp1OHIZjO1M8AswXXANs-panfnSb75rdcl8yf-4

  Mastocytosis often has a genetic component, meaning it can run in families. Individuals with a family history of the condition are at a higher risk of developing it themselves. […] While specific genetic mutations are linked to mastocytosis, more research is needed to fully understand these genetic triggers. […] Somatic mutations, which occur after conception and are not inherited, can also trigger mastocytosis. These mutations lead to the abnormal proliferation of mast cells in various tissues. […] The exact causes of these mutations are still under investigation, but they are believed to result from a combination of genetic and environmental factors. […] Certain environmental factors may contribute to the development of mastocytosis, although their role is not fully understood. […] Hormonal changes, such as those that occur during puberty or pregnancy, can sometimes trigger mastocytosis or exacerbate existing symptoms.

• #53 What Are Mast Cell Diseases? – Allergy & Asthma Network

  https://allergyasthmanetwork.org/mast-cell-diseases/

  People with systemic mastocytosis are at higher risk for developing anaphylaxis. Severe cases are rare, but they can lead to organ failure or certain types of cancer. […] People with mast cell activation syndrome have overactive mast cells. The mast cells release chemical mediators such as histamine too frequently. It can occur with or without exposure to an allergen trigger. […] Hereditary alpha-tryptasemia (HT) is a genetic trait. It affects 4-8% of the general population. People with this trait have high levels of the protein alpha tryptase. This protein is found around blood vessels and in mast cells. The tryptase levels become more elevated during an allergic reaction.

• #54 Mastocytosis and Mast Cell Activation Disorders: Clearing the Air

  https://www.mdpi.com/1422-0067/22/20/11270

  A genetic disorder, referred to as hereditary alpha-tryptasemia (HαT) has also been described recently. This condition has been shown to be associated with increased severity of allergic and anaphylactic reactions and may interact variably with primary and secondary mast cell disease, resulting in complex combined disorders. […] Somatic mutations in c-KIT that code for the KIT receptor have been linked to the development of systemic mastocytosis, a clonal hematological disorder. The most common of these mutations is the D816V mutation that leads to enhanced survival and proliferation of mast cells, a feature of clonal mast cell disorders including mastocytosis and mast cell activation disorders.

• #55 What Are Mast Cell Diseases? – Allergy & Asthma Network

  https://allergyasthmanetwork.org/mast-cell-diseases/

  People with systemic mastocytosis are at higher risk for developing anaphylaxis. Severe cases are rare, but they can lead to organ failure or certain types of cancer. […] People with mast cell activation syndrome have overactive mast cells. The mast cells release chemical mediators such as histamine too frequently. It can occur with or without exposure to an allergen trigger. […] Hereditary alpha-tryptasemia (HT) is a genetic trait. It affects 4-8% of the general population. People with this trait have high levels of the protein alpha tryptase. This protein is found around blood vessels and in mast cells. The tryptase levels become more elevated during an allergic reaction.

• #56 Mastocytosis and Mast Cell Activation Disorders: Clearing the Air

  https://www.mdpi.com/1422-0067/22/20/11270

  A genetic disorder, referred to as hereditary alpha-tryptasemia (HαT) has also been described recently. This condition has been shown to be associated with increased severity of allergic and anaphylactic reactions and may interact variably with primary and secondary mast cell disease, resulting in complex combined disorders. […] Somatic mutations in c-KIT that code for the KIT receptor have been linked to the development of systemic mastocytosis, a clonal hematological disorder. The most common of these mutations is the D816V mutation that leads to enhanced survival and proliferation of mast cells, a feature of clonal mast cell disorders including mastocytosis and mast cell activation disorders.

• #57 7 Root Causes of Mast Cell Activation Syndrome (MCAS) | The EDS Clinic

  https://www.eds.clinic/articles/7-root-causes-of-mast-cell-activation-syndrome-mcas

  Mast Cell Activation Syndrome (MCAS) is a complex condition characterized by the inappropriate activation of mast cells, a type of immune cell involved in allergic and inflammatory responses. […] Understanding the root causes of MCAS can help patients and healthcare providers identify triggers and implement effective treatment strategies. The seven root causes of MCAS include genetic predisposition, environmental triggers, chronic infections, gut dysbiosis, hormonal imbalances, autoimmune disorders, and nervous system dysregulation. […] Genetic mutations, particularly in genes related to mast cell regulation, such as KIT or the RCCX complex, can increase susceptibility to MCAS. Hereditary alpha tryptasemia, characterized by multiple copies of the alpha-tryptase gene, is one of the most common genetic links to MCAS. Other associated genetic conditions include mastocytosis and atopic diathesis.

• #58 What Are Mast Cell Diseases? – Allergy & Asthma Network

  https://allergyasthmanetwork.org/mast-cell-diseases/

  People with systemic mastocytosis are at higher risk for developing anaphylaxis. Severe cases are rare, but they can lead to organ failure or certain types of cancer. […] People with mast cell activation syndrome have overactive mast cells. The mast cells release chemical mediators such as histamine too frequently. It can occur with or without exposure to an allergen trigger. […] Hereditary alpha-tryptasemia (HT) is a genetic trait. It affects 4-8% of the general population. People with this trait have high levels of the protein alpha tryptase. This protein is found around blood vessels and in mast cells. The tryptase levels become more elevated during an allergic reaction.

• #59 Mast Cell Activation Syndrome | PoTS UK

  https://www.potsuk.org/about-pots/associated-conditions/mcas/

  Mastocytosis occurs when there are too many mast cells in the body. This condition does not occur in PoTS. […] Mast Cell Activation Syndrome (MCAS) is a condition affecting several body systems where there is a normal number of mast cells, but they don’t function properly. It is likely that the signs and symptoms of MCAS are caused by the chemicals being released inappropriately when mast cells are stimulated. […] Mastocytosis – a very rare condition. It is caused by excessive multiplication and therefore higher than normal numbers of mast cells in the body.

• #60 Mast Cell Activation Syndrome: Symptoms, Causes, and Treatment

  https://www.webmd.com/allergies/what-is-mast-cell-activation-syndrome

  Mast cell activation syndromes can be primary, secondary, and idiopathic, depending on why they happen. […] Primary disorders of mast cell activation usually happen when there’s a problem with the mast cell or its parent cells, which causes extra production of mast cells. This problem may occur when there is a mutation in a gene called KIT. […] These primary disorders of mast cell activation include mastocytosis, monoclonal mast cell activation syndrome (MMAS), mast cell sarcoma, mast cell leukemia, and mastocytoma. […] Secondary disorders of mast cell activation happen when the body encounters a trigger that causes it to produce too many mast cells. […] No one knows the exact cause of this type of mast cell activation syndrome. It’s called an idiopathic condition because it’s not caused by any other disease or related to a clear allergy or cause.

• #61 Mast Cell Activation Syndrome: Symptoms, Causes, and Treatment

  https://www.webmd.com/allergies/what-is-mast-cell-activation-syndrome

  Mast cell activation syndromes can be primary, secondary, and idiopathic, depending on why they happen. […] Primary disorders of mast cell activation usually happen when there’s a problem with the mast cell or its parent cells, which causes extra production of mast cells. This problem may occur when there is a mutation in a gene called KIT. […] These primary disorders of mast cell activation include mastocytosis, monoclonal mast cell activation syndrome (MMAS), mast cell sarcoma, mast cell leukemia, and mastocytoma. […] Secondary disorders of mast cell activation happen when the body encounters a trigger that causes it to produce too many mast cells. […] No one knows the exact cause of this type of mast cell activation syndrome. It’s called an idiopathic condition because it’s not caused by any other disease or related to a clear allergy or cause.

• #62 Mast Cell Activation Syndrome: Symptoms, Causes, and Treatment

  https://www.webmd.com/allergies/what-is-mast-cell-activation-syndrome

  Mast cell activation syndromes can be primary, secondary, and idiopathic, depending on why they happen. […] Primary disorders of mast cell activation usually happen when there’s a problem with the mast cell or its parent cells, which causes extra production of mast cells. This problem may occur when there is a mutation in a gene called KIT. […] These primary disorders of mast cell activation include mastocytosis, monoclonal mast cell activation syndrome (MMAS), mast cell sarcoma, mast cell leukemia, and mastocytoma. […] Secondary disorders of mast cell activation happen when the body encounters a trigger that causes it to produce too many mast cells. […] No one knows the exact cause of this type of mast cell activation syndrome. It’s called an idiopathic condition because it’s not caused by any other disease or related to a clear allergy or cause.

• #63 Mast Cell Activation Syndrome: Symptoms, Causes, and Treatment

  https://www.webmd.com/allergies/what-is-mast-cell-activation-syndrome

  Mast cell activation syndromes can be primary, secondary, and idiopathic, depending on why they happen. […] Primary disorders of mast cell activation usually happen when there’s a problem with the mast cell or its parent cells, which causes extra production of mast cells. This problem may occur when there is a mutation in a gene called KIT. […] These primary disorders of mast cell activation include mastocytosis, monoclonal mast cell activation syndrome (MMAS), mast cell sarcoma, mast cell leukemia, and mastocytoma. […] Secondary disorders of mast cell activation happen when the body encounters a trigger that causes it to produce too many mast cells. […] No one knows the exact cause of this type of mast cell activation syndrome. It’s called an idiopathic condition because it’s not caused by any other disease or related to a clear allergy or cause.

• #64 7 Root Causes of Mast Cell Activation Syndrome (MCAS) | The EDS Clinic

  https://www.eds.clinic/articles/7-root-causes-of-mast-cell-activation-syndrome-mcas

  Mast Cell Activation Syndrome (MCAS) is a complex condition characterized by the inappropriate activation of mast cells, a type of immune cell involved in allergic and inflammatory responses. […] Understanding the root causes of MCAS can help patients and healthcare providers identify triggers and implement effective treatment strategies. The seven root causes of MCAS include genetic predisposition, environmental triggers, chronic infections, gut dysbiosis, hormonal imbalances, autoimmune disorders, and nervous system dysregulation. […] Genetic mutations, particularly in genes related to mast cell regulation, such as KIT or the RCCX complex, can increase susceptibility to MCAS. Hereditary alpha tryptasemia, characterized by multiple copies of the alpha-tryptase gene, is one of the most common genetic links to MCAS. Other associated genetic conditions include mastocytosis and atopic diathesis.

• #65 7 Root Causes of Mast Cell Activation Syndrome (MCAS) | The EDS Clinic

  https://www.eds.clinic/articles/7-root-causes-of-mast-cell-activation-syndrome-mcas

  Environmental toxins like mold, pesticides, and chemicals can overstimulate mast cells and contribute to MCAS symptoms. Chronic exposure to these toxins may create a cumulative burden, worsening the condition over time. […] Persistent infections, such as Lyme disease, Epstein-Barr virus, or candida overgrowth, can lead to prolonged immune activation and mast cell dysfunction. […] An imbalance in gut bacteria, often referred to as gut dysbiosis, can contribute to systemic inflammation and trigger mast cell activation. […] Hormones, particularly estrogen, influence mast cell behavior. Fluctuations in estrogen levels, such as those occurring during menstrual cycles, can exacerbate MCAS symptoms. […] Autoimmune diseases like lupus or Sjgren’s syndrome create chronic inflammation that can activate mast cells. […] The autonomic nervous system which regulates involuntary functions like heart rate and digestion can influence mast cell activity. Dysregulation often increases mast cell sensitivity.

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