People with CARD9 deficiency are particularly susceptible to Candida infections of the central nervous system. NIAID researchers are studying how CARD9 deficiency and other genetic disorders result in susceptibility to candidiasis, an infection with the yeast fungus Candida. CARD9 Deficiency and Other Syndromes of Susceptibility to Candidiasis NIH researchers first described this condition in two siblings in 2002. CEDS is characterized by an enlarged spleen and lymph nodes, recurrent sinus and lung infections, recurrent viral infections, and a low level of infection-fighting antibodies. Caspase Eight Deficiency State (CEDS)Ĭaspase eight deficiency state, or CEDS, is a very rare genetic disorder of the immune system caused by mutations in the CASP8 gene. The disease is characterized by high levels of certain immune cells starting in infancy, an enlarged spleen, enlarged lymph nodes, immunodeficiency, and an elevated risk of lymphoma, a type of cancer Read more about BENTA disease. BENTA DiseaseīENTA disease is a rare genetic disorder of the immune system caused by mutations in the gene CARD11. APS-1 (APECED)Īutoimmune polyglandular syndrome type 1 (APS-1), also called autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED), causes a diverse range of symptoms, including autoimmunity against different types of organs and increased susceptibility to candidiasis, a fungal infection caused by Candida yeast. Read more about autoimmune lymphoproliferative syndrome (ALPS). These problems can increase the risk of infection and hemorrhage. Autoimmune Lymphoproliferative Syndrome (ALPS)Īutoimmune lymphoproliferative syndrome (ALPS) is a rare immune disorder first described by NIH scientists in the mid-1990s that can cause numerous autoimmune problems, such as low levels of red blood cells, clot-forming platelets, and infection-fighting white blood cells. The following are some of the individual PIDDs that NIAID is currently studying. NIAID conducts research across all PIDDs as well as among the individual diseases that make up this broad category. There are more than 200 different forms of primary immune deficiency diseases (PIDDs).
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