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 ...

Combined immunodeficiency due to GINS1 deficiency is a very rare genetic disease that weakens the immune system from birth. “Combined immunodeficiency” means ...

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 ...

Autosomal recessive hyper-IgE recurrent infection syndrome 2 is a rare genetic immune system disease where the body cannot fight germs properly and blood ...

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 ...

Combined immunodeficiency due to DOCK8 deficiency is a rare, inherited disease where a gene called DOCK8 (dedicator of cytokinesis 8) does not work properly. ...

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 ...

Combined immunodeficiency due to calcium release-activated calcium (CRAC) channel dysfunction is a very rare, inherited immune system disease. In this ...

Combined immunodeficiency due to CRAC channel dysfunction is a very rare inherited immune disease. In this condition, tiny calcium channels called CRAC ...

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 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 ...

Galactosialidosis is a very rare genetic disease in which the “recycling centres” inside cells, called lysosomes, do not work properly. In healthy people, ...

Combined deficiency of sialidase and beta-galactosidase is a rare inherited disease where two important “clean-up” enzymes inside the cell do not work ...

Familial multiple coagulation factor deficiency is a group of rare inherited bleeding disorders where a person has low levels of two or more blood-clotting ...

American mountain tick fever is another name for a disease called Colorado tick fever. It is a rare sickness caused by a virus that lives inside certain ...

Microphthalmia, syndromic type 14 is a very rare genetic disease that affects the eyes, bones, and body growth. In this condition, one or both eyes are very ...

Microphthalmia-coloboma-rhizomelic skeletal dysplasia is a very rare genetic syndrome that affects eye development, bone growth, and sometimes the brain and ...

Colobomatous microphthalmia-rhizomelic dysplasia syndrome is a very rare genetic condition that starts when the baby is still in the womb. In this syndrome, ...

Colobomatous microphthalmia–obesity–hypogenitalism–intellectual disability syndrome is a very rare genetic condition. In this syndrome, both eyes are small ...

MACOM syndrome means “macrophthalmia, colobomatous, with microcornea.” It is a very rare genetic eye problem. In this condition, the clear front window of the ...