Rx Autoimmune, Genetic and Rare Diseases (A – Z)
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Multiple Endocrine Deficiency–Addison Disease–Candidiasis Syndrome
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Multiple endocrine deficiency–Addison disease–candidiasis syndrome is a rare, inherited immune disorder. The immune system mistakenly attacks the body’s own ...

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Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy (APECED) Syndrome
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Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) syndrome is a rare, inherited autoimmune disease. “Inherited” means the condition runs ...

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Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy (APECED)
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Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy (APECED) is a rare inherited immune-system disease that usually begins in childhood. It happens ...

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Autoimmune Hypoparathyroidism–Chronic Candidiasis–Addison Disease Syndrome
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Autoimmune hypoparathyroidism–chronic candidiasis–Addison disease syndrome is a rare inherited immune disorder. Doctors now call it APS-1 or APECED. The immune ...

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APECED Syndrome (Autoimmune Polyendocrine Syndrome Type 1, APS-1)
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APECED is a rare inherited immune system disease. It happens when a child is born with harmful changes (mutations) in a gene called AIRE. The AIRE gene ...

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RAS- Associated Autoimmune Lymphoproliferative Syndrome Type IV (ALPS-IV)
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RAS-associated autoimmune lymphoproliferative syndrome type IV (ALPS-IV) is a very rare immune-system disorder caused by changes (mutations) in RAS genes (most ...

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NRAS Autoimmune Lymphoproliferative Syndrome (RALD-NRAS)
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NRAS autoimmune lymphoproliferative syndrome (RALD-NRAS) is a rare immune-system problem caused by a change (mutation) in the NRAS gene. This change keeps the ...

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Autoimmune Lymphoproliferative Syndrome Caused by Mutation in NRAS (RALD/ALPS-IV)
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Autoimmune lymphoproliferative syndrome (ALPS) is a disorder where some white blood cells do not die when they should. Because these cells stay alive too long, ...

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CASP8 Autoimmune Lymphoproliferative Syndrome (CASP8-ALPS / Caspase-8–Related ALPS-like Disease)
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Autoimmune lymphoproliferative syndrome (CASP8-ALPS / caspase-8–related ALPS-like disease) is a very rare genetic immune disorder in which a change in the ...

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Autoimmune Lymphoproliferative Syndrome (ALPS) with Recurrent Viral Infections
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Autoimmune lymphoproliferative syndrome (ALPS) is a rare genetic immune system disease where old or damaged immune cells do not die when they should. Because ...

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Autoimmune Lymphoproliferative Syndrome Type 2B (ALPS-2B)
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Autoimmune Lymphoproliferative Syndrome type 2B (ALPS-2B) is a rare, inherited immune system disorder caused by harmful changes (mutations) in the CASP8 gene, ...

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Immune Dysregulation with Autoimmunity and Immunodeficiency
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Immune dysregulation with autoimmunity and immunodeficiency means the body’s defense system is out of balance in two ways at the same time. First, it is ...

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CTLA-4 Haploinsufficiency with Autoimmune Infiltration Disease
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CTLA-4 haploinsufficiency with autoimmune infiltration disease is a rare, inherited immune-regulatory disorder where one working copy of the CTLA4 gene is not ...

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Autoimmune Lymphoproliferative Syndrome Type 5 (ALPS-5)
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Autoimmune Lymphoproliferative Syndrome type 5 (ALPS-5) is a rare immune system disease. It happens when a gene called CTLA4 does not make enough working ...

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Autoimmune Lymphoproliferative Syndrome due to CTLA-4 Haploinsufficiency
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Autoimmune lymphoproliferative syndrome due to CTLA-4 haploinsufficiency is a rare inherited immune-system disorder. People are born with a harmful change in ...

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FAS Deficiency (TNFRSF6) Dysfunction
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FAS deficiency is a genetic problem in the “self-destruct” pathway of immune cells. In healthy people, activated lymphocytes (a kind of white blood cell) are ...

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Canale-Smith syndrome
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Canale-Smith syndrome is the historic name for Autoimmune Lymphoproliferative Syndrome (ALPS)—a rare genetic disorder in which certain immune cells don’t die ...

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COPA Syndrome
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COPA syndrome is a rare, inherited immune system disease. A change (mutation) in the COPA gene upsets normal “postal service” traffic between two cell ...

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Autoimmune Interstitial Lung Disease–Arthritis Syndrome
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Autoimmune interstitial lung disease–arthritis syndrome describes people who have two problems at the same time: (1) inflammation and/or scarring inside the ...

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TPPII-Related Immunodeficiency
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TPPII-related immunodeficiency is a rare, inherited immune system disorder caused by harmful changes (pathogenic variants) in a gene called TPP2, which makes ...

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