Combined oxidative phosphorylation deficiency caused by mutation in RMND1 is a very rare inherited disease in which the tiny “power stations” of the cell (mitochondria) cannot make enough energy. 1 ...
Hereditary xanthinuria type 2 is a very rare, life-long (genetic) disease of purine metabolism, which is the way the body breaks down some building blocks of DNA and RNA. In this type, the body ...
Deficiency of molybdenum cofactor (often shortened to MoCD) is a very rare inherited disease. In this disease, the body cannot make a tiny helper molecule called the molybdenum cofactor. This helper ...
Combined malonic and methylmalonic acidemia (CMAMMA) is a very rare genetic disease. It happens when the body cannot handle two natural chemicals called malonic acid and methylmalonic acid in the ...
Immunodeficiency with granulomatosis is a health problem where the immune system is weak and does not work in a normal way, and at the same time the body makes many “granulomas.” Granulomas are ...
Combined immunodeficiency due to RAG1/2 deficiency is a serious inherited disease where the immune system cannot build normal T cells and B cells, which are the main “soldiers” that fight germs. This ...
Combined immunodeficiency with skin granulomas is a rare inherited immune system disease. In this condition, both main arms of the adaptive immune system (T cells and B cells) do not work properly, ...
Roifman-Chitayat syndrome (often shortened to ROCHIS) is a combined primary immunodeficiency. “Combined” means both the antibody-producing (B-cell) and T-cell parts of the immune system do not work ...
Combined immunodeficiency with faciooculoskeletal anomalies is a very rare genetic disease. It affects the immune system, the face, the eyes, the bones, and body development at the same time. ...
Zeta-associated-protein 70 deficiency (often called ZAP-70 deficiency) is a rare, inherited problem of the immune system. It mainly affects T cells, which are white blood cells that help the body ...
Combined immunodeficiency due to ZAP70 deficiency is a very rare genetic immune system disease where a child’s T cells do not work properly because a key signaling protein called ZAP-70 is missing or ...
T-cell immunodeficiency with recurrent infections, autoimmunity, and cardiac (heart) malformations is a group of problems where the body’s defense system and the heart do not develop or work ...
Combined immunodeficiency due to STK4 deficiency is a rare, inherited disease of the immune system. In this condition, a gene called STK4 (also called MST1) does not work properly. Because of this, ...
Combined immunodeficiency due to STIM1 deficiency is a very rare inherited disease where the immune system does not work properly because a gene called STIM1 is damaged. STIM1 is needed for calcium ...
Combined immunodeficiency with expansion of gamma delta T cells (often shortened to CID with γδ T-cell expansion) is a rare group of primary (inborn) immune system diseases. In this condition, both ...
Combined immunodeficiency due to partial RAG1 deficiency is a rare genetic disease where a child is born with an immune system that works, but works only a little, not normally. The problem comes ...
Immunodeficiency type 16 is a very rare inherited problem of the immune system. Doctors also call it “immunodeficiency-16” or “IMD16.” It is a primary immunodeficiency, which means the person is born ...
Combined immunodeficiency with impaired immunity to human herpes virus 8 is a very rare inherited immune system disease. In this disease, the body cannot make a strong T-cell response against human ...
Combined immunodeficiency with impaired immunity to HHV-8 is a very rare, inherited problem of the immune system where both T cells and B cells do not work properly, especially against a virus called ...
Combined immunodeficiency due to OX40 deficiency is a very rare inherited disease of the immune system. In this condition, a gene called TNFRSF4, also known as OX40, does not work in the normal way. ...
