Combined immunodeficiency due to ORAI1 deficiency is an ultra-rare genetic immune disorder where the body cannot move calcium properly into immune cells after they are activated. This problem comes ...
X-linked moesin-associated immunodeficiency (often shortened to X-MAID) is a very rare, inherited immune system disease. In this condition, a change (mutation) in a gene called MSN on the X ...
Immunodeficiency type 50 is a very rare, inherited problem of the immune system. It mainly affects T cells and B cells, which are white blood cells that fight germs. Because these cells do not work ...
Combined immunodeficiency due to moesin deficiency is a rare, inherited immune system disease where both T cells and B cells do not work properly, so the body cannot fight germs well. It is caused by ...
Combined immunodeficiency due to MALT1 deficiency is a rare genetic disease where the immune system does not work properly because a gene called MALT1 is damaged in both copies. This gene normally ...
Common variable immunodeficiency-8 with autoimmunity is a rare inherited immune system disease caused by harmful changes in the LRBA (lipopolysaccharide-responsive beige-like anchor) gene. This gene ...
Combined immunodeficiency due to lipopolysaccharide-responsive beige-like anchor (LRBA) protein deficiency is a rare, inherited immune system disease where both antibody-producing cells (B cells) and ...
Combined immunodeficiency due to LRBA deficiency is a rare inherited disease where a mistake in a single gene (the LRBA gene) makes the immune system weak and badly controlled at the same time. In ...
Combined immunodeficiency with intrauterine growth retardation–natural killer (NK) cell deficiency–neutropenia is a very rare, inherited immune system disease. In this condition, a baby grows poorly ...
Combined immunodeficiency due to GINS complex subunit 1 deficiency is a very rare, inherited immune system disease. In this condition, a gene called GINS1 does not work properly, so the body cannot ...
Combined immunodeficiency due to GINS1 deficiency is a very rare genetic disease that weakens the immune system from birth. “Combined immunodeficiency” means that more than one part of the immune ...
Hyper-IgE syndrome (HIES) is a rare, inherited immune system disease where the body makes very high levels of the antibody IgE and cannot fight germs in a normal way. People usually have severe ...
Autosomal recessive hyper-IgE recurrent infection syndrome 2 is a rare genetic immune system disease where the body cannot fight germs properly and blood levels of the antibody IgE are very high. It ...
Combined immunodeficiency due to dedicator of cytokinesis 8 protein deficiency is a rare, serious problem of the immune system caused by changes in a gene called DOCK8. In this condition, both T ...
Combined immunodeficiency due to DOCK8 deficiency is a rare, inherited disease where a gene called DOCK8 (dedicator of cytokinesis 8) does not work properly. Because of this gene problem, important ...
Immune dysfunction due to T-cell inactivation from a calcium entry defect is a very rare, inherited immune system disease. In this condition, T cells (a type of white blood cell that controls many ...
Combined immunodeficiency due to calcium release-activated calcium (CRAC) channel dysfunction is a very rare, inherited immune system disease. In this condition, important white blood cells ...
Combined immunodeficiency due to CRAC channel dysfunction is a very rare inherited immune disease. In this condition, tiny calcium channels called CRAC channels in white blood cells do not work ...
SCID-like immunodeficiency, T cell-partial, B cell-positive, NK cell-positive is a very rare primary immune system disease. Doctors also call it immunodeficiency 17 or combined immunodeficiency due ...
Immunodeficiency type 17 is a rare disease where part of the immune system does not work properly from birth. In this condition, a gene called CD3G is changed (mutated). This gene helps T cells make ...
