Materiały źródłowe

• #1 Mixed Connective Tissue Disease – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK542198/

  Mixed connective tissue disease (MCTD) is a rare systemic autoimmune disease with the main features of at least 2 overlapping connective tissue diseases, including systemic lupus erythematosus, systemic sclerosis, polymyositis, dermatomyositis, and rheumatoid arthritis. The etiology of MCTD is unclear but is believed to involve the interaction of genetic predisposition with the environment. Sequence-based typing of HLA-B* and DRB1* showed that risk alleles for MCTD are HLA-B*08 and DRB1*04:01, whereas protective alleles are DRB1*04:04, DRB1*13:01, and DRB1*13:02. […] No clear environmental risk factor has been identified thus far. However, immune activation due to environmental factors in people with genetic predisposition is believed to play a role. Some environmental factors, such as infections, drugs, toxins, ultraviolet radiation, and chemicals, including vinyl chloride and silica, have some correlation with the development of MCTD.

• #2 Mixed Connective Tissue Disease: Symptoms, Causes, and Treatment

  https://www.healthline.com/health/mixed-connective-tissue-disease

  Mixed connective tissue disease (MCTD) is a rare autoimmune disorder. […] The exact cause of MCTD is unknown. Its an autoimmune disorder, meaning it involves your immune system mistakenly attacking healthy tissue. […] MCTD occurs when your immune system attacks the connective tissue that provides the framework for the organs of your body. […] Some people with MCTD have a family history of it, but researchers havent found a clear genetic link. […] According to the Genetic and Rare Diseases Information Center (GARD), women are three times more likely than men to develop the condition.

• #3 Mixed connective tissue disease | Beacon Health System

  https://www.beaconhealthsystem.org/library/diseases-and-conditions/mixed-connective-tissue-disease?content_id=CON-20375131

  Mixed connective tissue disease is an autoimmune disorder, although the cause isn’t known. In autoimmune disorders, your immune system responsible for fighting off disease mistakenly attacks healthy cells. […] Some people with mixed connective tissue disease have a family history of the condition. But the role of genetics in the disease remains unclear.

• #4 Mixed connective tissue disease – Augusta HealthSearchClose SearchSearch IconSearch IconClose Search IconMobile Menu IconMobile Menu Close IconInstagramFacebookTwitterYoutube

  https://www.augustahealth.com/disease/mixed-connective-tissue-disease/

  Mixed connective tissue disease is an autoimmune disorder, although the cause isn’t known. In autoimmune disorders, your immune system — responsible for fighting off disease — mistakenly attacks healthy cells. […] In connective tissue diseases, your immune system attacks the fibers that provide the framework and support for your body. Some people with mixed connective tissue disease have a family history of the condition. But the role of genetics in the disease remains unclear.

• #5

  https://www.painscale.com/article/what-is-mixed-connective-tissue-disease-mctd

  Mixed connective tissue disease (MCTD) is a rare autoimmune condition; it is often referred to as an overlap disease because the symptoms of MCTD overlap with other connective tissue conditions, including polymyositis, scleroderma and systemic lupus erythematosus (SLE). […] Autoimmune diseases develop when the immune system mistakenly attacks healthy cells; mixed connective tissue disease occurs when the immune system attacks the fibers that support the framework of the body. […] The exact cause of mixed connective tissue disease is unknown; however, researchers are currently attempting to identify proteins produced by the immune system that may play a role in the development of MCTD. […] Although mixed connective tissue disease may occur more often in people who have a family history of the condition, the role of genetics is unclear. Other risk factors include, but are not limited to, the following: Exposure to certain viruses may increase the risk of developing MCTD. […] Exposure to chemicals, such as polyvinyl chloride and silica, may cause MCTD.

• #6 Mixed Connective Tissue Disease | BW Arthritis & Rheumatology, PA

  https://www.bwarthritis.com/mixed-connective-tissue-disease.php

  Mixed connective tissue disease, sometimes referred to as an overlap disease, is a disorder that includes signs and symptoms of a combination of disorders including lupus, scleroderma, polymyositis, and in some cases, rheumatoid arthritis. […] The exact cause of mixed connective tissue disease is unknown, although it is believed to be an autoimmune disorder where the immune system mistakenly fights healthy cells or tissue. […] With mixed connective tissue disease, it seems that the immune system is attacking the tissues and fibers that provide support for the body.

• #7 Mixed Connective-Tissue Disease (MCTD): Practice Essentials, Pathophysiology, Etiology

  https://emedicine.medscape.com/article/335815-overview

  The fundamental cause of MCTD remains unknown. Autoimmunity to components of the U1-70 kd snRNP is a hallmark of disease. Anti-RNP antibodies can precede overt clinical manifestations of MCTD, but overt disease generally develops within 1 year of anti-RNP antibody induction. […] The loss of T-lymphocyte and B-lymphocyte tolerance, due to cryptic self-antigens, abnormalities of apoptosis, or molecular mimicry by infectious agents, and driven by U1-RNA-induced innate immune responses and other danger signal sensors induced by end-organ injury, are proposed current theories of pathogenesis. […] It is notable that the RNA component unique to the U1-small nuclear ribonucleoprotein, U1-RNA, is among the most prevalent RNAs present in cellular apoptotic debris, and that U1-RNA is an agonist for autoimmunity-associated endosomal Toll-like receptors, including TLR7 and TLR3. These observations promote the hypothesis that immune recognition of apoptotic debris may play a key role in the etiology of anti-RNP autoimmunity, as in MCTD.

• #8 Towards early diagnosis of mixed connective tissue disease | ITT

  https://www.dovepress.com/towards-early-diagnosis-of-mixed-connective-tissue-disease-updated-per-peer-reviewed-fulltext-article-ITT

  Mixed Connective Tissue Disease (MCTD) is an autoimmune disease first described by Sharp et al in 1972, characterized by the presence of anti-Ribonucleoprotein antibodies directed against the U1 complex (anti-U1RNP). […] The pathophysiology of this condition is also largely unknown, but it clearly seems to be multifactorial. A genetic association with the development of MCTD was found in patients with HLA-DR4, but not with HLA-DR3 and -DR5 (which are strongly associated with SLE and SSc respectively). […] Environmental and occupational exposure in predisposed patients, as well as infections (mainly retroviruses such as Human Immunodeficiency Virus Type-1) seem to play a critical role in the development of the condition. […] The hallmark of the disease is represented by anti-U1RNP (or anti-nRNP), an autoantibody directed against the 70kDa subunit of the U1 RNP complex, an intracellular protein involved in mRNA maturation.

• #9 Mixed connective tissue disease – Wikipedia

  https://en.wikipedia.org/wiki/Mixed_connective_tissue_disease

  Several immunological variables have been linked to MCTD and may play a role in disease etiology. The 70-kD peptide of the U1-RNP antigen appears to be a dominant autoantigen in MCTD, consisting of a 437 residue polypeptide that noncovalently binds with U1-RNA via an RNA binding region on the polypeptide spanning residues 92-202. Autoantibodies are generally recognized as a feature of several rheumatic illnesses, including MCTD. Two investigations have provided evidence that anti-RNP antibodies have a role in the development of MCTD by linking antibody emergence to clinical illness.

• #10 Mixed Connective-Tissue Disease (MCTD): Practice Essentials, Pathophysiology, Etiology

  https://emedicine.medscape.com/article/335815-overview

  The fundamental cause of MCTD remains unknown. Autoimmunity to components of the U1-70 kd snRNP is a hallmark of disease. Anti-RNP antibodies can precede overt clinical manifestations of MCTD, but overt disease generally develops within 1 year of anti-RNP antibody induction. […] The loss of T-lymphocyte and B-lymphocyte tolerance, due to cryptic self-antigens, abnormalities of apoptosis, or molecular mimicry by infectious agents, and driven by U1-RNA-induced innate immune responses and other danger signal sensors induced by end-organ injury, are proposed current theories of pathogenesis. […] It is notable that the RNA component unique to the U1-small nuclear ribonucleoprotein, U1-RNA, is among the most prevalent RNAs present in cellular apoptotic debris, and that U1-RNA is an agonist for autoimmunity-associated endosomal Toll-like receptors, including TLR7 and TLR3. These observations promote the hypothesis that immune recognition of apoptotic debris may play a key role in the etiology of anti-RNP autoimmunity, as in MCTD.

• #11 Orphanet: Mixed connective tissue disease

  https://www.orpha.net/en/disease/detail/809

  Mixed connective tissue disease (MCTD) is a rare connective tissue disorder combining clinical features of systemic lupus erythematosus (SLE), systemic sclerosis (SSc), polymyositis (PM) and/or rheumatoid arthritis (RA). […] The exact cause of MCTD is still unknown, but abnormal B- and T-cell immune responses against apoptotically modified self-antigens may be observed in MCTD patients.

• #12 Mixed Connective-Tissue Disease (MCTD): Practice Essentials, Pathophysiology, Etiology

  https://emedicine.medscape.com/article/335815-overview

  The fundamental cause of MCTD remains unknown. Autoimmunity to components of the U1-70 kd snRNP is a hallmark of disease. Anti-RNP antibodies can precede overt clinical manifestations of MCTD, but overt disease generally develops within 1 year of anti-RNP antibody induction. […] The loss of T-lymphocyte and B-lymphocyte tolerance, due to cryptic self-antigens, abnormalities of apoptosis, or molecular mimicry by infectious agents, and driven by U1-RNA-induced innate immune responses and other danger signal sensors induced by end-organ injury, are proposed current theories of pathogenesis. […] It is notable that the RNA component unique to the U1-small nuclear ribonucleoprotein, U1-RNA, is among the most prevalent RNAs present in cellular apoptotic debris, and that U1-RNA is an agonist for autoimmunity-associated endosomal Toll-like receptors, including TLR7 and TLR3. These observations promote the hypothesis that immune recognition of apoptotic debris may play a key role in the etiology of anti-RNP autoimmunity, as in MCTD.

• #13 Mixed connective tissue disease | Beacon Health System

  https://www.beaconhealthsystem.org/library/diseases-and-conditions/mixed-connective-tissue-disease?content_id=CON-20375131

  Mixed connective tissue disease is an autoimmune disorder, although the cause isn’t known. In autoimmune disorders, your immune system responsible for fighting off disease mistakenly attacks healthy cells. […] Some people with mixed connective tissue disease have a family history of the condition. But the role of genetics in the disease remains unclear.

• #14 Mixed Connective Tissue Disease: Symptoms, Causes, and Treatment

  https://www.healthline.com/health/mixed-connective-tissue-disease

  Mixed connective tissue disease (MCTD) is a rare autoimmune disorder. […] The exact cause of MCTD is unknown. Its an autoimmune disorder, meaning it involves your immune system mistakenly attacking healthy tissue. […] MCTD occurs when your immune system attacks the connective tissue that provides the framework for the organs of your body. […] Some people with MCTD have a family history of it, but researchers havent found a clear genetic link. […] According to the Genetic and Rare Diseases Information Center (GARD), women are three times more likely than men to develop the condition.

• #15 Mixed connective tissue disease

  https://dermnetnz.org/topics/mixed-connective-tissue-disease

  What causes mixed connective tissue disease? The cause of mixed connective tissue disease is not fully known. Due to the presence of autoantibodies, it is classified is an autoimmune disease. […] It is most common in patients with HLA-DR4, suggesting it has a genetic background.

• #16 Mixed Connective Tissue Disease – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK542198/

  Mixed connective tissue disease (MCTD) is a rare systemic autoimmune disease with the main features of at least 2 overlapping connective tissue diseases, including systemic lupus erythematosus, systemic sclerosis, polymyositis, dermatomyositis, and rheumatoid arthritis. The etiology of MCTD is unclear but is believed to involve the interaction of genetic predisposition with the environment. Sequence-based typing of HLA-B* and DRB1* showed that risk alleles for MCTD are HLA-B*08 and DRB1*04:01, whereas protective alleles are DRB1*04:04, DRB1*13:01, and DRB1*13:02. […] No clear environmental risk factor has been identified thus far. However, immune activation due to environmental factors in people with genetic predisposition is believed to play a role. Some environmental factors, such as infections, drugs, toxins, ultraviolet radiation, and chemicals, including vinyl chloride and silica, have some correlation with the development of MCTD.

• #17 Mixed Connective Tissue Disease | Treatment & Management | Point of Care

  https://www.statpearls.com/point-of-care/25207

  The etiology of MCTD is unclear but is believed to involve the interaction of genetic predisposition with the environment. Sequence-based typing of HLA-B* and DRB1* showed that risk alleles for MCTD are HLA-B*08 and DRB1*04:01, whereas protective alleles are DRB1*04:04, DRB1*13:01, and DRB1*13:02. […] No clear environmental risk factor has been identified thus far. However, immune activation due to environmental factors in people with genetic predisposition is believed to play a role. Some environmental factors, such as infections, drugs, toxins, ultraviolet radiation, and chemicals, including vinyl chloride and silica, have some correlation with the development of MCTD. […] Molecular mimicry is the leading theory triggering the onset of disease. Amino acid sequences from non-self proteins in the environment may mimic host epitopes and induce autoantibody responses. For example, almost 91% of DNA from the serum of patients with MCTD had an HIV type-1 conserved Pol sequence. Seventy-five percent of patients with MCTD patients had antibodies to HIV GAG proteins p35 and p24.

• #18 What Is Mixed Connective Tissue Disease (MCTD)? Symptoms, Diagnosis, Treatment, and More

  https://www.webmd.com/lupus/what-is-mixed-connective-tissue-disease

  Mixed Connective Tissue Disease (MCTD) is a rare autoimmune disorder. […] The exact cause of Mixed Connective Tissue Disease is not known. Research is unclear about whether you can inherit the condition directly. People who do have a family history of MCTD are more likely to develop it. […] Sometimes the disease can be caused by viruses. It can also be caused by exposure to chemicals like polyvinyl chloride and silica.

• #19 Mixed Connective Tissue Disease Treatment | Atlanta

  https://argmd.net/conditions-we-treat/mixed-connective-tissue-disease-mctd/

  The exact cause of MCTD is unknown, but it is believed to involve an abnormal immune response where the body’s immune system attacks its own tissues. […] There is no clear evidence that MCTD is hereditary, though genetic factors may contribute to susceptibility.

• #20 Mixed Connective Tissue Disease | Symptoms, Diagnosis & Treatment

  https://www.cincinnatichildrens.org/health/m/mctd

  Mixed connective tissue disease (MCTD) is a rare disease in children. […] We do not know the cause of MCTD. A number of factors have been researched, but no single factor has been found. […] One theory is that development of MCTD requires a blend of environmental factors and a genetic risk factor. […] MCTD does not occur from inheriting a single gene mutation, since it is very rare for other family members to develop MCTD. […] We do know MCTD is not contagious and there is no treatment to prevent it.

• #21 Mixed connective tissue disease – Wikipedia

  https://en.wikipedia.org/wiki/Mixed_connective_tissue_disease

  Genetic and environmental factors both influence susceptibility to MCTD. The condition is associated with aberrant immunological regulation and immune-effector pathways. […] Several environmental factors have been postulated to modify illness susceptibility or induce disease; the most persuasive of these is the role of female sex hormones, as evidenced by the disease’s significant female-to-male ratio and other data. Furthermore, investigations indicate that Epstein-Barr virus, retroviruses, or other viruses may play a role in causing disease in some patients. Cytomegalovirus has also been proposed as capable of eliciting anti-RNP antibody responses in the absence of illness. Environmental exposure to vinyl chloride has been linked to the development of an MCTD-like condition. […] In MCTD, major histocompatibility complex (MHC) and non-MHC genes have been linked to disease vulnerability. HLA-DR4 in the MHC is linked to both anti-RNP antibody responses and MCTD. The HLA class II phenotype/genotype most closely connected with scleroderma, HLA-DR5, and its subgroups, has been demonstrated to have a negative connection with MCTD.

• #22 Mixed Connective Tissue Disease – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK542198/

  Mixed connective tissue disease (MCTD) is a rare systemic autoimmune disease with the main features of at least 2 overlapping connective tissue diseases, including systemic lupus erythematosus, systemic sclerosis, polymyositis, dermatomyositis, and rheumatoid arthritis. The etiology of MCTD is unclear but is believed to involve the interaction of genetic predisposition with the environment. Sequence-based typing of HLA-B* and DRB1* showed that risk alleles for MCTD are HLA-B*08 and DRB1*04:01, whereas protective alleles are DRB1*04:04, DRB1*13:01, and DRB1*13:02. […] No clear environmental risk factor has been identified thus far. However, immune activation due to environmental factors in people with genetic predisposition is believed to play a role. Some environmental factors, such as infections, drugs, toxins, ultraviolet radiation, and chemicals, including vinyl chloride and silica, have some correlation with the development of MCTD.

• #23 Mixed connective tissue disease – Wikipedia

  https://en.wikipedia.org/wiki/Mixed_connective_tissue_disease

  Genetic and environmental factors both influence susceptibility to MCTD. The condition is associated with aberrant immunological regulation and immune-effector pathways. […] Several environmental factors have been postulated to modify illness susceptibility or induce disease; the most persuasive of these is the role of female sex hormones, as evidenced by the disease’s significant female-to-male ratio and other data. Furthermore, investigations indicate that Epstein-Barr virus, retroviruses, or other viruses may play a role in causing disease in some patients. Cytomegalovirus has also been proposed as capable of eliciting anti-RNP antibody responses in the absence of illness. Environmental exposure to vinyl chloride has been linked to the development of an MCTD-like condition. […] In MCTD, major histocompatibility complex (MHC) and non-MHC genes have been linked to disease vulnerability. HLA-DR4 in the MHC is linked to both anti-RNP antibody responses and MCTD. The HLA class II phenotype/genotype most closely connected with scleroderma, HLA-DR5, and its subgroups, has been demonstrated to have a negative connection with MCTD.

• #24 Towards early diagnosis of mixed connective tissue disease | ITT

  https://www.dovepress.com/towards-early-diagnosis-of-mixed-connective-tissue-disease-updated-per-peer-reviewed-fulltext-article-ITT

  Mixed Connective Tissue Disease (MCTD) is an autoimmune disease first described by Sharp et al in 1972, characterized by the presence of anti-Ribonucleoprotein antibodies directed against the U1 complex (anti-U1RNP). […] The pathophysiology of this condition is also largely unknown, but it clearly seems to be multifactorial. A genetic association with the development of MCTD was found in patients with HLA-DR4, but not with HLA-DR3 and -DR5 (which are strongly associated with SLE and SSc respectively). […] Environmental and occupational exposure in predisposed patients, as well as infections (mainly retroviruses such as Human Immunodeficiency Virus Type-1) seem to play a critical role in the development of the condition. […] The hallmark of the disease is represented by anti-U1RNP (or anti-nRNP), an autoantibody directed against the 70kDa subunit of the U1 RNP complex, an intracellular protein involved in mRNA maturation.

• #25 Mixed Connective Tissue Disease (MCTD): Symptoms & Treatment

  https://my.clevelandclinic.org/health/diseases/15039-mixed-connective-tissue-disease

  Mixed connective tissue disease (MCTD) is a rare autoimmune disorder. Researchers dont know what triggers mixed connective tissue disease. Its not directly inherited, although some research shows that the disease may occur more often in people with a biological family history of connective tissue diseases. Exposure to certain viruses, chemicals or materials, like polyvinyl chloride and silica, are other possible causes. […] MCTD occurs most often in females in their 20s and 30s. But people of all ages, including children, can develop the disease.

• #26 Mixed connective tissue disease – Wikipedia

  https://en.wikipedia.org/wiki/Mixed_connective_tissue_disease

  Genetic and environmental factors both influence susceptibility to MCTD. The condition is associated with aberrant immunological regulation and immune-effector pathways. […] Several environmental factors have been postulated to modify illness susceptibility or induce disease; the most persuasive of these is the role of female sex hormones, as evidenced by the disease’s significant female-to-male ratio and other data. Furthermore, investigations indicate that Epstein-Barr virus, retroviruses, or other viruses may play a role in causing disease in some patients. Cytomegalovirus has also been proposed as capable of eliciting anti-RNP antibody responses in the absence of illness. Environmental exposure to vinyl chloride has been linked to the development of an MCTD-like condition. […] In MCTD, major histocompatibility complex (MHC) and non-MHC genes have been linked to disease vulnerability. HLA-DR4 in the MHC is linked to both anti-RNP antibody responses and MCTD. The HLA class II phenotype/genotype most closely connected with scleroderma, HLA-DR5, and its subgroups, has been demonstrated to have a negative connection with MCTD.

• #27 Overview on Mixed Connective Tissue Diseases

  https://www.ejmjih.com/ejmjih-articles/overview-on-mixed-connective-tissue-diseases-87640.html

  The following are examples of non-inherited causes of autoimmune connective tissue disease: […] Environmental factors can also play a role in the development of mixed connective tissue diseases. […] Toxic chemical exposure, such as that found in smog and cigarette smoke. Ultraviolet light exposure. Poor nutrition, particularly a deficiency in vitamins D and C. Infections.

• #28 Mixed Connective Tissue Disease | Treatment & Management | Point of Care

  https://www.statpearls.com/point-of-care/25207

  The etiology of MCTD is unclear but is believed to involve the interaction of genetic predisposition with the environment. Sequence-based typing of HLA-B* and DRB1* showed that risk alleles for MCTD are HLA-B*08 and DRB1*04:01, whereas protective alleles are DRB1*04:04, DRB1*13:01, and DRB1*13:02. […] No clear environmental risk factor has been identified thus far. However, immune activation due to environmental factors in people with genetic predisposition is believed to play a role. Some environmental factors, such as infections, drugs, toxins, ultraviolet radiation, and chemicals, including vinyl chloride and silica, have some correlation with the development of MCTD. […] Molecular mimicry is the leading theory triggering the onset of disease. Amino acid sequences from non-self proteins in the environment may mimic host epitopes and induce autoantibody responses. For example, almost 91% of DNA from the serum of patients with MCTD had an HIV type-1 conserved Pol sequence. Seventy-five percent of patients with MCTD patients had antibodies to HIV GAG proteins p35 and p24.

• #29 Mixed Connective Tissue Disease – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK542198/

  Mixed connective tissue disease (MCTD) is a rare systemic autoimmune disease with the main features of at least 2 overlapping connective tissue diseases, including systemic lupus erythematosus, systemic sclerosis, polymyositis, dermatomyositis, and rheumatoid arthritis. The etiology of MCTD is unclear but is believed to involve the interaction of genetic predisposition with the environment. Sequence-based typing of HLA-B* and DRB1* showed that risk alleles for MCTD are HLA-B*08 and DRB1*04:01, whereas protective alleles are DRB1*04:04, DRB1*13:01, and DRB1*13:02. […] No clear environmental risk factor has been identified thus far. However, immune activation due to environmental factors in people with genetic predisposition is believed to play a role. Some environmental factors, such as infections, drugs, toxins, ultraviolet radiation, and chemicals, including vinyl chloride and silica, have some correlation with the development of MCTD.

• #30 Mixed Connective Tissue Disease | Treatment & Management | Point of Care

  https://www.statpearls.com/point-of-care/25207

  The etiology of MCTD is unclear but is believed to involve the interaction of genetic predisposition with the environment. Sequence-based typing of HLA-B* and DRB1* showed that risk alleles for MCTD are HLA-B*08 and DRB1*04:01, whereas protective alleles are DRB1*04:04, DRB1*13:01, and DRB1*13:02. […] No clear environmental risk factor has been identified thus far. However, immune activation due to environmental factors in people with genetic predisposition is believed to play a role. Some environmental factors, such as infections, drugs, toxins, ultraviolet radiation, and chemicals, including vinyl chloride and silica, have some correlation with the development of MCTD. […] Molecular mimicry is the leading theory triggering the onset of disease. Amino acid sequences from non-self proteins in the environment may mimic host epitopes and induce autoantibody responses. For example, almost 91% of DNA from the serum of patients with MCTD had an HIV type-1 conserved Pol sequence. Seventy-five percent of patients with MCTD patients had antibodies to HIV GAG proteins p35 and p24.

• #31 Mixed Connective Tissue Disease – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK542198/

  Molecular mimicry is the leading theory triggering the onset of disease. Amino acid sequences from non-self proteins in the environment may mimic host epitopes and induce autoantibody responses. For example, almost 91% of DNA from the serum of patients with MCTD had an HIV type-1 conserved Pol sequence. Seventy-five percent of patients with MCTD patients had antibodies to HIV GAG proteins p35 and p24.

• #32 Mixed Connective Tissue Disease | Treatment & Management | Point of Care

  https://www.statpearls.com/point-of-care/25207

  The etiology of MCTD is unclear but is believed to involve the interaction of genetic predisposition with the environment. Sequence-based typing of HLA-B* and DRB1* showed that risk alleles for MCTD are HLA-B*08 and DRB1*04:01, whereas protective alleles are DRB1*04:04, DRB1*13:01, and DRB1*13:02. […] No clear environmental risk factor has been identified thus far. However, immune activation due to environmental factors in people with genetic predisposition is believed to play a role. Some environmental factors, such as infections, drugs, toxins, ultraviolet radiation, and chemicals, including vinyl chloride and silica, have some correlation with the development of MCTD. […] Molecular mimicry is the leading theory triggering the onset of disease. Amino acid sequences from non-self proteins in the environment may mimic host epitopes and induce autoantibody responses. For example, almost 91% of DNA from the serum of patients with MCTD had an HIV type-1 conserved Pol sequence. Seventy-five percent of patients with MCTD patients had antibodies to HIV GAG proteins p35 and p24.

• #33 Mixed Connective Tissue Disease – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK542198/

  Molecular mimicry is the leading theory triggering the onset of disease. Amino acid sequences from non-self proteins in the environment may mimic host epitopes and induce autoantibody responses. For example, almost 91% of DNA from the serum of patients with MCTD had an HIV type-1 conserved Pol sequence. Seventy-five percent of patients with MCTD patients had antibodies to HIV GAG proteins p35 and p24.

• #34 Mixed Connective Tissue Disease | Treatment & Management | Point of Care

  https://www.statpearls.com/point-of-care/25207

  The etiology of MCTD is unclear but is believed to involve the interaction of genetic predisposition with the environment. Sequence-based typing of HLA-B* and DRB1* showed that risk alleles for MCTD are HLA-B*08 and DRB1*04:01, whereas protective alleles are DRB1*04:04, DRB1*13:01, and DRB1*13:02. […] No clear environmental risk factor has been identified thus far. However, immune activation due to environmental factors in people with genetic predisposition is believed to play a role. Some environmental factors, such as infections, drugs, toxins, ultraviolet radiation, and chemicals, including vinyl chloride and silica, have some correlation with the development of MCTD. […] Molecular mimicry is the leading theory triggering the onset of disease. Amino acid sequences from non-self proteins in the environment may mimic host epitopes and induce autoantibody responses. For example, almost 91% of DNA from the serum of patients with MCTD had an HIV type-1 conserved Pol sequence. Seventy-five percent of patients with MCTD patients had antibodies to HIV GAG proteins p35 and p24.

• #35 Mixed Connective Tissue Disease: Symptoms, Causes, and Treatment

  https://www.healthline.com/health/mixed-connective-tissue-disease

  Mixed connective tissue disease (MCTD) is a rare autoimmune disorder. […] The exact cause of MCTD is unknown. Its an autoimmune disorder, meaning it involves your immune system mistakenly attacking healthy tissue. […] MCTD occurs when your immune system attacks the connective tissue that provides the framework for the organs of your body. […] Some people with MCTD have a family history of it, but researchers havent found a clear genetic link. […] According to the Genetic and Rare Diseases Information Center (GARD), women are three times more likely than men to develop the condition.

• #36

  https://arthritis.ca/about-arthritis/arthritis-types-(a-z)/types/mixed-connective-tissue-disease-(mctd)

  The causes of MCTD are unknown. There may be a genetic predisposition autoimmune diseases like MCTD do tend to run in extended families. […] Mixed connective tissue disease is relatively rare, and the vast majority of people with the disease (80 per cent) are women.

• #37 Mixed Connective Tissue Disease: Symptoms, Causes, and Treatment

  https://www.healthline.com/health/mixed-connective-tissue-disease

  Mixed connective tissue disease (MCTD) is a rare autoimmune disorder. […] The exact cause of MCTD is unknown. Its an autoimmune disorder, meaning it involves your immune system mistakenly attacking healthy tissue. […] MCTD occurs when your immune system attacks the connective tissue that provides the framework for the organs of your body. […] Some people with MCTD have a family history of it, but researchers havent found a clear genetic link. […] According to the Genetic and Rare Diseases Information Center (GARD), women are three times more likely than men to develop the condition.

• #38 Disease MCTD – ERN ReCONNET | European Reference Network on Rare and Complex Connective Tissue and Musculoskeletal Diseases

  https://reconnet.ern-net.eu/disease-mctd/

  Mixed connective tissue disease (MCTD) is a rare autoimmune disease. The exact cause of MCTD is unknown, but there are several recognized risk factors that may contribute to the development of this disease: […] Environmental factors: exposure to certain viral infections or chemical substances may play a role in the development of MCTD. […] MCTD is more commonly diagnosed in women; the disease is estimated to affect women about nine times more frequently than men. […] The exact incidence is unknown. A population-based study from Olmsted County, Minnesota found that MCTD occurred in about 2 persons per 100,000 per year and in Norway found the point prevalence rate to be 3.8 cases per 100,000 adult population.

• #39 Mixed Connective Tissue Disease (MCTD): Symptoms, Causes, and Treatment • Yesil Health

  https://yesilhealth.com/your-health/mixed-connective-tissue-disease-mctd-symptoms-causes-and-treatment/

  Environmental factors, such as exposure to toxins, viruses, and other substances, may trigger the onset of MCTD in susceptible individuals. For example, some research suggests that exposure to certain chemicals, such as silica, may increase the risk of developing MCTD. […] Hormonal changes, particularly in women, may also contribute to the development of MCTD. Fluctuations in estrogen levels, such as those experienced during pregnancy or menopause, may trigger the onset of MCTD in some women. […] While these risk factors may contribute to the development of MCTD, its essential to remember that the exact causes of the condition are still not fully understood. Further research is needed to uncover the underlying mechanisms that lead to MCTD.

• #40 Understanding Connective Tissue Diseases: Symptoms, Risks, and Treatment

  https://www.rupahealth.com/post/understanding-connective-tissue-diseases-symptoms-risks-and-treatment

  Connective tissue diseases arise from a complex interplay of genetic, environmental, and hormonal factors. Understanding these causes can help in early detection and management. […] Genetic predispositions play a significant role in developing connective tissue diseases. Specific genes associated with immune system regulation can increase susceptibility. For example, HLA (human leukocyte antigen) gene variations are linked to higher risks of diseases like RA and SLE. […] Infections, drugs, and other environmental factors can trigger autoimmune responses, leading to connective tissue diseases. Infections like Epstein-Barr or cytomegalovirus can activate the immune system abnormally, potentially initiating autoimmune processes. […] Hormones, particularly those that vary between genders, influence the prevalence and severity of these diseases. Diseases with higher female prevalence include SLE (nine times more common in women than men), scleroderma (which affects women three times more often than men), and RA (approximately 71% of cases are women). Estrogen has been shown to play a role in modulating immune responses, which may explain the increased incidence in women.

• #41 What is Mixed Connective Tissue Disease (MCTD)? – Dr. Naveen Bhadauria | Private Rheumatologist Consultant In London

  https://privatelondonrheumatologist.com/what-is-mixed-connective-tissue-disease-mctd/

  Mixed connective tissue disease is an autoimmune disorder. The actual cause isn’t known, but it is triggered by your immune system mistakenly attacking healthy cells. The immune system attacks the tissue fibres that build the support framework of the body. […] While some people with MCTD have a family history of the condition, a direct genetic link hasn’t been established. […] It is believed that stress can be a significant trigger for an MCTD flare. Collected patient data indicates that stress is one of the essential factors in managing their condition. […] Cold exposure is another significant cause that can exacerbate current or past symptoms.

• #42 Mixed Connective Tissue Disease Flares: Symptoms and Treatment

  https://www.verywellhealth.com/mixed-connective-tissue-disease-flares-5112012

  MCTD may be marked by periods of no symptoms followed by exacerbations. Not much is known about triggers, but they may include pregnancy, stress, emotional distress, cold exposure, or switching or stopping medications. […] Pregnancy can cause stress on the body and trigger a flare, either during pregnancy or after the baby’s birth. One study found that 26.7% of patients who had stable MCTD at the time of conception went on to relapse during the pregnancy. […] Stress can be a major trigger of a flare. Most patients report that stress is one of the most significant factors in their illness. Stress can be caused by work, financial worries, traumatic life events, and a general sense of trying to do too much in too little time. […] Cold exposure can cause an exacerbation of current or past symptoms, especially those of Raynaud’s phenomenon.

• #43 What is Mixed Connective Tissue Disease (MCTD)? – Dr. Naveen Bhadauria | Private Rheumatologist Consultant In London

  https://privatelondonrheumatologist.com/what-is-mixed-connective-tissue-disease-mctd/

  Mixed connective tissue disease is an autoimmune disorder. The actual cause isn’t known, but it is triggered by your immune system mistakenly attacking healthy cells. The immune system attacks the tissue fibres that build the support framework of the body. […] While some people with MCTD have a family history of the condition, a direct genetic link hasn’t been established. […] It is believed that stress can be a significant trigger for an MCTD flare. Collected patient data indicates that stress is one of the essential factors in managing their condition. […] Cold exposure is another significant cause that can exacerbate current or past symptoms.

• #44 Mixed Connective Tissue Disease Flares: Symptoms and Treatment

  https://www.verywellhealth.com/mixed-connective-tissue-disease-flares-5112012

  MCTD may be marked by periods of no symptoms followed by exacerbations. Not much is known about triggers, but they may include pregnancy, stress, emotional distress, cold exposure, or switching or stopping medications. […] Pregnancy can cause stress on the body and trigger a flare, either during pregnancy or after the baby’s birth. One study found that 26.7% of patients who had stable MCTD at the time of conception went on to relapse during the pregnancy. […] Stress can be a major trigger of a flare. Most patients report that stress is one of the most significant factors in their illness. Stress can be caused by work, financial worries, traumatic life events, and a general sense of trying to do too much in too little time. […] Cold exposure can cause an exacerbation of current or past symptoms, especially those of Raynaud’s phenomenon.

• #45 Mixed Connective Tissue Disease Flares: Symptoms and Treatment

  https://www.verywellhealth.com/mixed-connective-tissue-disease-flares-5112012

  MCTD may be marked by periods of no symptoms followed by exacerbations. Not much is known about triggers, but they may include pregnancy, stress, emotional distress, cold exposure, or switching or stopping medications. […] Pregnancy can cause stress on the body and trigger a flare, either during pregnancy or after the baby’s birth. One study found that 26.7% of patients who had stable MCTD at the time of conception went on to relapse during the pregnancy. […] Stress can be a major trigger of a flare. Most patients report that stress is one of the most significant factors in their illness. Stress can be caused by work, financial worries, traumatic life events, and a general sense of trying to do too much in too little time. […] Cold exposure can cause an exacerbation of current or past symptoms, especially those of Raynaud’s phenomenon.

• #46 Mixed Connective Tissue Disease Flares: Symptoms and Treatment

  https://www.verywellhealth.com/mixed-connective-tissue-disease-flares-5112012

  MCTD may be marked by periods of no symptoms followed by exacerbations. Not much is known about triggers, but they may include pregnancy, stress, emotional distress, cold exposure, or switching or stopping medications. […] Pregnancy can cause stress on the body and trigger a flare, either during pregnancy or after the baby’s birth. One study found that 26.7% of patients who had stable MCTD at the time of conception went on to relapse during the pregnancy. […] Stress can be a major trigger of a flare. Most patients report that stress is one of the most significant factors in their illness. Stress can be caused by work, financial worries, traumatic life events, and a general sense of trying to do too much in too little time. […] Cold exposure can cause an exacerbation of current or past symptoms, especially those of Raynaud’s phenomenon.

• #47 Connective Tissue Disease: Types, Diagnosis, Symptoms & Causes

  https://www.webmd.com/a-to-z-guides/connective-tissue-disease

  Connective tissue disease is a group of disorders involving the protein-rich tissue that supports your organs and other parts of your body. […] Causes and specific symptoms vary by type. […] Autoimmune connective tissue diseases happen when your immune system mistakenly attacks your own body. You might get an autoimmune connective tissue disease because of: Toxic chemicals found in things such as air pollution and cigarette smoke, Poor nutrition, mostly a lack of vitamins D and C, Infection, Too much ultraviolet light. […] Researchers don’t know the cause of other forms of connective tissue disease. In some cases, they believe something in the environment could trigger the disease in people who are vulnerable. […] People with MCTD have symptoms of several diseases, including lupus, scleroderma, polymyositis or dermatomyositis, and rheumatoid arthritis. […] While many people with mixed connective tissue disease have mild symptoms, others may have life-threatening health problems.

• #48 Clinical Course, Prognosis, and Causes of Death in Mixed Connective Tissue Disease | The Journal of Rheumatology

  https://www.jrheum.org/content/40/7/1134

  A total of 22 of 280 patients died: the causes of death were pulmonary arterial hypertension (PAH) in 9 patients, thrombotic thrombocytopenic purpura in 3, infections in 3, and cardiovascular events in 7. […] Overall, PAH remained the leading cause of death in patients with MCTD. […] The presence of antiphospholipid antibodies raised the risk of mortality. […] Earlier reports showed that the leading cause of death in MCTD is pulmonary arterial hypertension (PAH), with obliterative vasculopathy. […] The high number of deaths in MCTD is also associated with involvement of internal organs related to the disease, such as lung and cerebrovascular and renal disease, especially in childhood. […] During the observational period, 22 of 280 patients died; causes of death are given in Table 2. PAH was the major complication of MCTD.

• #49 Mixed Connective Tissue Disease (MCTD) – Musculoskeletal and Connective Tissue Disorders – MSD Manual Professional Edition

  https://www.msdmanuals.com/professional/musculoskeletal-and-connective-tissue-disorders/systemic-rheumatic-diseases/mixed-connective-tissue-disease-mctd

  The cause of MCTD is unknown. […] In many patients the disease evolves into classic systemic sclerosis or systemic lupus erythematosus (SLE). […] Thus, there is a lack of consensus among some experts that MCTD should be considered a distinct disease. […] Causes of death include pulmonary hypertension, renal failure, myocardial infarction, colonic perforation, disseminated infection, and cerebral hemorrhage.

• #50 Clinical Course, Prognosis, and Causes of Death in Mixed Connective Tissue Disease | The Journal of Rheumatology

  https://www.jrheum.org/content/40/7/1134

  A total of 22 of 280 patients died: the causes of death were pulmonary arterial hypertension (PAH) in 9 patients, thrombotic thrombocytopenic purpura in 3, infections in 3, and cardiovascular events in 7. […] Overall, PAH remained the leading cause of death in patients with MCTD. […] The presence of antiphospholipid antibodies raised the risk of mortality. […] Earlier reports showed that the leading cause of death in MCTD is pulmonary arterial hypertension (PAH), with obliterative vasculopathy. […] The high number of deaths in MCTD is also associated with involvement of internal organs related to the disease, such as lung and cerebrovascular and renal disease, especially in childhood. […] During the observational period, 22 of 280 patients died; causes of death are given in Table 2. PAH was the major complication of MCTD.

• #51 Clinical Course, Prognosis, and Causes of Death in Mixed Connective Tissue Disease | The Journal of Rheumatology

  https://www.jrheum.org/content/40/7/1134

  Three patients died with TTP/HUS. […] Infections also played a pivotal role in the mortality. […] Cardiovascular events in MCTD were associated with a relatively poor prognosis. […] Our cohort study showed that the presence of cardiovascular events, PAH, serositis, and secondary APS increased the risk of mortality. […] The presence of aCL, anti-2-GPI, and AECA increased the risk of mortality.

• #52 Clinical Course, Prognosis, and Causes of Death in Mixed Connective Tissue Disease | The Journal of Rheumatology

  https://www.jrheum.org/content/40/7/1134

  A total of 22 of 280 patients died: the causes of death were pulmonary arterial hypertension (PAH) in 9 patients, thrombotic thrombocytopenic purpura in 3, infections in 3, and cardiovascular events in 7. […] Overall, PAH remained the leading cause of death in patients with MCTD. […] The presence of antiphospholipid antibodies raised the risk of mortality. […] Earlier reports showed that the leading cause of death in MCTD is pulmonary arterial hypertension (PAH), with obliterative vasculopathy. […] The high number of deaths in MCTD is also associated with involvement of internal organs related to the disease, such as lung and cerebrovascular and renal disease, especially in childhood. […] During the observational period, 22 of 280 patients died; causes of death are given in Table 2. PAH was the major complication of MCTD.

• #53 Clinical Course, Prognosis, and Causes of Death in Mixed Connective Tissue Disease | The Journal of Rheumatology

  https://www.jrheum.org/content/40/7/1134

  Three patients died with TTP/HUS. […] Infections also played a pivotal role in the mortality. […] Cardiovascular events in MCTD were associated with a relatively poor prognosis. […] Our cohort study showed that the presence of cardiovascular events, PAH, serositis, and secondary APS increased the risk of mortality. […] The presence of aCL, anti-2-GPI, and AECA increased the risk of mortality.

• #54 Clinical Course, Prognosis, and Causes of Death in Mixed Connective Tissue Disease | The Journal of Rheumatology

  https://www.jrheum.org/content/40/7/1134

  A total of 22 of 280 patients died: the causes of death were pulmonary arterial hypertension (PAH) in 9 patients, thrombotic thrombocytopenic purpura in 3, infections in 3, and cardiovascular events in 7. […] Overall, PAH remained the leading cause of death in patients with MCTD. […] The presence of antiphospholipid antibodies raised the risk of mortality. […] Earlier reports showed that the leading cause of death in MCTD is pulmonary arterial hypertension (PAH), with obliterative vasculopathy. […] The high number of deaths in MCTD is also associated with involvement of internal organs related to the disease, such as lung and cerebrovascular and renal disease, especially in childhood. […] During the observational period, 22 of 280 patients died; causes of death are given in Table 2. PAH was the major complication of MCTD.

• #55 Clinical Course, Prognosis, and Causes of Death in Mixed Connective Tissue Disease | The Journal of Rheumatology

  https://www.jrheum.org/content/40/7/1134

  Three patients died with TTP/HUS. […] Infections also played a pivotal role in the mortality. […] Cardiovascular events in MCTD were associated with a relatively poor prognosis. […] Our cohort study showed that the presence of cardiovascular events, PAH, serositis, and secondary APS increased the risk of mortality. […] The presence of aCL, anti-2-GPI, and AECA increased the risk of mortality.

• #56 Mixed Connective Tissue Disease (MCTD) – Musculoskeletal and Connective Tissue Disorders – MSD Manual Professional Edition

  https://www.msdmanuals.com/professional/musculoskeletal-and-connective-tissue-disorders/systemic-rheumatic-diseases/mixed-connective-tissue-disease-mctd

  The cause of MCTD is unknown. […] In many patients the disease evolves into classic systemic sclerosis or systemic lupus erythematosus (SLE). […] Thus, there is a lack of consensus among some experts that MCTD should be considered a distinct disease. […] Causes of death include pulmonary hypertension, renal failure, myocardial infarction, colonic perforation, disseminated infection, and cerebral hemorrhage.

• #57 Clinical Course, Prognosis, and Causes of Death in Mixed Connective Tissue Disease | The Journal of Rheumatology

  https://www.jrheum.org/content/40/7/1134

  Three patients died with TTP/HUS. […] Infections also played a pivotal role in the mortality. […] Cardiovascular events in MCTD were associated with a relatively poor prognosis. […] Our cohort study showed that the presence of cardiovascular events, PAH, serositis, and secondary APS increased the risk of mortality. […] The presence of aCL, anti-2-GPI, and AECA increased the risk of mortality.

• #58 Mixed Connective Tissue Disease (MCTD)

  https://www.aiarthritis.org/MCTD

  MCTD is a rare autoimmune disorder where patients have features of more than one rheumatic disease, such as lupus, scleroderma, and polymyositis. […] Family History: Autoimmune diseases often run in families, indicating a potential genetic predisposition where that gene can cause disease. Autoinflammatory diseases can occur multiple times in a family, but is based off of genetic mutation. It is not a gene that causes the disease but a mutation on the gene that can cause the disease which can then be passed on to the next generation. […] MCTD was first described in 1972 by Dr. Gordon Sharp, who identified a specific autoantibody, anti-U1 RNP, found in patients with overlapping features of lupus, scleroderma, and myositis. The name reflects its nature as a mixture of multiple connective tissue diseases. […] It is very likely that MCTD develops into SLE (Lupus) or Scleroderma (Systemic Sclerosis).

• #59 Mixed Connective Tissue Disease (MCTD) – Musculoskeletal and Connective Tissue Disorders – MSD Manual Professional Edition

  https://www.msdmanuals.com/professional/musculoskeletal-and-connective-tissue-disorders/systemic-rheumatic-diseases/mixed-connective-tissue-disease-mctd

  The cause of MCTD is unknown. […] In many patients the disease evolves into classic systemic sclerosis or systemic lupus erythematosus (SLE). […] Thus, there is a lack of consensus among some experts that MCTD should be considered a distinct disease. […] Causes of death include pulmonary hypertension, renal failure, myocardial infarction, colonic perforation, disseminated infection, and cerebral hemorrhage.

• #60 Mixed Connective Tissue Disease | The MetroHealth System

  https://www.metrohealth.org/rheumatology/mixed-connective-tissue-disease

  Mixed connective tissue disease is a rheumatic disease that has features shared by lupus, scleroderma, polymyositis or dermatomyositis and rheumatoid arthritis. […] It isn’t yet known what causes this disease. In some cases, it gets worse and develops into scleroderma or lupus. Several factors, however, suggest that mixed connective tissue disease is a distinct disorder in its own right. These include symptoms shared by several rheumatic conditions, the presence of certain antibodies, abnormalities in the system that regulates the body’s immune response and frequent pulmonary hypertension.

• #61 Towards early diagnosis of mixed connective tissue disease | ITT

  https://www.dovepress.com/towards-early-diagnosis-of-mixed-connective-tissue-disease-updated-per-peer-reviewed-fulltext-article-ITT

  Anti-U1RNP seems also have a prognostic value: high titre of anti-U1RNP seems to be associated with the presence of PAH and a less common neurological involvement, whereas its disappearance is associated with a persistent disease remission. […] Despite the fact that, conceptually, MCTD can be considered to be an overlap disease, its classification as a distinct entity is generally accepted. The condition is actually associated with the positivity of a specific autoantibody and a genetic predisposition associated with HLA-DR4 (whereas SLE and SSc are associated with HLA DR3 and DR5 respectively).

• #62 Towards early diagnosis of mixed connective tissue disease | ITT

  https://www.dovepress.com/towards-early-diagnosis-of-mixed-connective-tissue-disease-updated-per-peer-reviewed-fulltext-article-ITT

  Anti-U1RNP seems also have a prognostic value: high titre of anti-U1RNP seems to be associated with the presence of PAH and a less common neurological involvement, whereas its disappearance is associated with a persistent disease remission. […] Despite the fact that, conceptually, MCTD can be considered to be an overlap disease, its classification as a distinct entity is generally accepted. The condition is actually associated with the positivity of a specific autoantibody and a genetic predisposition associated with HLA-DR4 (whereas SLE and SSc are associated with HLA DR3 and DR5 respectively).

• #63

  https://link.springer.com/article/10.1007/s10238-020-00606-7

  Mixed connective tissue disease was first described as a new autoimmune rheumatic disease in 1972 based on the claim of a distinct clinical picture associated with anti-RNP antibody positivity. […] Despite the claims made in the initial study, anti-RNP antibodies, even in high titre, lack specificity, the MCTD patients often evolve to other well-defined ARD and the idea that low-dose corticosteroid only was required was also challenged. […] A genetic association between HLA haplotype and anti-U1RNP antibodies was discovered, which some have interpreted as supporting the concept of MCTD. […] However, other studies demonstrated that this linkage did not correlate with clinical disease expression, merely with antibody production. […] Disease stability is a core argument in favour of the existence of MCTD as an independent ARD.

• #64

  https://link.springer.com/article/10.1007/s10238-020-00606-7

  The major cause of death was PAH, followed by cardiovascular events and TTP/HUS. Overall, the prognosis appears to be connected to the presence of pulmonary disease. […] While we do not pretend that there are no patients who may have high levels of antibodies to RNP and whose clinical features fall within the MCTD description, many of these patients, as clearly indicated by long-term follow-up studies, evolve into other more specific ARDs. […] We take the view that the patients, whose clinical features remain stable, would best be described as having an undifferentiated ARD. The term MCTD seems to us thoroughly discredited and does not better define these patients.

• #65 Mixed Connective Tissue Disease – MD Searchlight

  https://mdsearchlight.com/health/mixed-connective-tissue-disease/

  The exact cause of mixed connective tissue disease (MCTD) is unknown, but its thought that genes and interaction with the environment play a role. Certain alleles (differences in sequences of DNA within a gene), marked HLA-B*08 and DRB1*04:01, appear to increase the risk of developing MCTD. On the flip side, some alleles, such as DRB1*04:04, DRB1*13:01, and DRB1*13:02, seem to protect against the disease. […] However, its believed that if someone has a genetic susceptibility to MCTD, something in their environment may cause their immune system to become overly active. Some elements of the environment, like infections, medications, toxins, ultraviolet radiation, and certain chemicals (like vinyl chloride and silica), might be associated with MCTD. […] One leading theory is that the start of the disease is triggered by molecular mimicry. Simply put, this is when proteins from outside the body have the same structure as proteins in the body, which may cause the body to mistakenly attack its own cells. For example, some research has found that about 91% of MCTD patients DNA contained a sequence similar to one found in HIV type-1. Moreover, 75% of MCTD patients were found to have antibodies to certain HIV proteins.

• #66 Mixed Connective Tissue Disease – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK542198/

  Molecular mimicry is the leading theory triggering the onset of disease. Amino acid sequences from non-self proteins in the environment may mimic host epitopes and induce autoantibody responses. For example, almost 91% of DNA from the serum of patients with MCTD had an HIV type-1 conserved Pol sequence. Seventy-five percent of patients with MCTD patients had antibodies to HIV GAG proteins p35 and p24.

• #67 Mixed Connective Tissue Disease: Symptoms, Causes, and Treatment

  https://www.healthline.com/health/mixed-connective-tissue-disease

  Mixed connective tissue disease (MCTD) is a rare autoimmune disorder. […] The exact cause of MCTD is unknown. Its an autoimmune disorder, meaning it involves your immune system mistakenly attacking healthy tissue. […] MCTD occurs when your immune system attacks the connective tissue that provides the framework for the organs of your body. […] Some people with MCTD have a family history of it, but researchers havent found a clear genetic link. […] According to the Genetic and Rare Diseases Information Center (GARD), women are three times more likely than men to develop the condition.

• #68 Mixed Connective Tissue Disease (MCTD): Symptoms, Causes, and Treatment • Yesil Health

  https://yesilhealth.com/your-health/mixed-connective-tissue-disease-mctd-symptoms-causes-and-treatment/

  Environmental factors, such as exposure to toxins, viruses, and other substances, may trigger the onset of MCTD in susceptible individuals. For example, some research suggests that exposure to certain chemicals, such as silica, may increase the risk of developing MCTD. […] Hormonal changes, particularly in women, may also contribute to the development of MCTD. Fluctuations in estrogen levels, such as those experienced during pregnancy or menopause, may trigger the onset of MCTD in some women. […] While these risk factors may contribute to the development of MCTD, its essential to remember that the exact causes of the condition are still not fully understood. Further research is needed to uncover the underlying mechanisms that lead to MCTD.

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