Whitaker Syndrome
Whitaker syndrome is a rare, inherited autoimmune disease in which the body’s defense system attacks several of its own glands and tissues. The classic picture is a triad: long-lasting skin, mouth, ...
Rx Autoimmune, Genetic and Rare Diseases (A – Z)
Multiple Endocrine Deficiency–Addison Disease–Candidiasis Syndrome
Multiple endocrine deficiency–Addison disease–candidiasis syndrome is a rare, inherited immune disorder. The immune system mistakenly attacks the body’s own organs. The classic “triad” that helps ...
Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy (APECED) Syndrome
Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) syndrome is a rare, inherited autoimmune disease. “Inherited” means the condition runs in families. It happens when both copies ...
Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy (APECED)
Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy (APECED) is a rare inherited immune-system disease that usually begins in childhood. It happens when a single gene called AIRE does not ...
Autoimmune Hypoparathyroidism–Chronic Candidiasis–Addison Disease Syndrome
Autoimmune hypoparathyroidism–chronic candidiasis–Addison disease syndrome is a rare inherited immune disorder. Doctors now call it APS-1 or APECED. The immune system loses tolerance and mistakenly ...
APECED Syndrome (Autoimmune Polyendocrine Syndrome Type 1, APS-1)
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 normally “teaches” developing immune cells in ...
RAS- Associated Autoimmune Lymphoproliferative Syndrome Type IV (ALPS-IV)
RAS-associated autoimmune lymphoproliferative syndrome type IV (ALPS-IV) is a very rare immune-system disorder caused by changes (mutations) in RAS genes (most often NRAS; sometimes KRAS). These ...
NRAS Autoimmune Lymphoproliferative Syndrome (RALD-NRAS)
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 RAS/MAPK signaling pathway “switched ...
Autoimmune Lymphoproliferative Syndrome Caused by Mutation in NRAS (RALD/ALPS-IV)
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, the lymph nodes and spleen can become ...
CASP8 Autoimmune Lymphoproliferative Syndrome (CASP8-ALPS / Caspase-8–Related ALPS-like Disease)
Autoimmune lymphoproliferative syndrome (CASP8-ALPS / caspase-8–related ALPS-like disease) is a very rare genetic immune disorder in which a change in the CASP8 gene disrupts a key “self-destruct” ...
Autoimmune Lymphoproliferative Syndrome (ALPS) with Recurrent Viral Infections
Autoimmune lymphoproliferative syndrome (ALPS) is a rare genetic immune system disease where old or damaged immune cells do not die when they should. Because these cells do not die, they build up in ...
Autoimmune Lymphoproliferative Syndrome Type 2B (ALPS-2B)
Autoimmune Lymphoproliferative Syndrome type 2B (ALPS-2B) is a rare, inherited immune system disorder caused by harmful changes (mutations) in the CASP8 gene, which encodes caspase-8, a key protein ...
Immune Dysregulation with Autoimmunity and Immunodeficiency
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 over-active against the self (autoimmunity), ...
CTLA-4 Haploinsufficiency with Autoimmune Infiltration Disease
CTLA-4 haploinsufficiency with autoimmune infiltration disease is a rare, inherited immune-regulatory disorder where one working copy of the CTLA4 gene is not enough to keep the immune system ...
Autoimmune Lymphoproliferative Syndrome Type 5 (ALPS-5)
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 protein (this is called ...
Autoimmune Lymphoproliferative Syndrome due to CTLA-4 Haploinsufficiency
Autoimmune lymphoproliferative syndrome due to CTLA-4 haploinsufficiency is a rare inherited immune-system disorder. People are born with a harmful change in one copy of the CTLA4 gene. Because only ...
FAS Deficiency (TNFRSF6) Dysfunction
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 removed after their job is done by a ...
Canale-Smith syndrome
Canale-Smith syndrome is the historic name for Autoimmune Lymphoproliferative Syndrome (ALPS)—a rare genetic disorder in which certain immune cells don’t die on schedule. Because these cells live too ...
COPA Syndrome
COPA syndrome is a rare, inherited immune system disease. A change (mutation) in the COPA gene upsets normal “postal service” traffic between two cell rooms—the endoplasmic reticulum (ER) and the ...
Autoimmune Interstitial Lung Disease–Arthritis Syndrome
Autoimmune interstitial lung disease–arthritis syndrome describes people who have two problems at the same time: (1) inflammation and/or scarring inside the lungs (called interstitial lung disease, ...
