Combined deficiency of sulfite oxidase, xanthine dehydrogenase and aldehyde oxidase is a very rare, serious inherited metabolic disease. In simple words, the ...

Combined malonic and methylmalonic acidemia (CMAMMA) is a very rare genetic disease. It happens when the body cannot handle two natural chemicals called ...

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 ...

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 ...

Combined immunodeficiency with skin granulomas is a rare inherited immune system disease. In this condition, both main arms of the adaptive immune system (T ...

Roifman-Chitayat syndrome (often shortened to ROCHIS) is a combined primary immunodeficiency. “Combined” means both the antibody-producing (B-cell) and T-cell ...

Combined immunodeficiency with faciooculoskeletal anomalies is a very rare genetic disease. It affects the immune system, the face, the eyes, the bones, and ...

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 ...

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 ...

T-cell immunodeficiency with recurrent infections, autoimmunity, and cardiac (heart) malformations is a group of problems where the body’s defense system and ...

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) ...

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 ...

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 ...

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 ...

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 ...

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 ...

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 ...

Combined immunodeficiency with childhood-onset Kaposi sarcoma is a very rare genetic immune system disease. In this disease, a gene called TNFRSF4 does not ...

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 ...

Combined immunodeficiency due to ORAI1 deficiency is an ultra-rare genetic immune disorder where the body cannot move calcium properly into immune cells after ...