Disease Directory

Immuno-osseous dysplasia is a condition that appears to affect both the immune and skeletal systems, although detailed characteristics are not fully d...

Immunodeficiency 102 is an X-linked recessive immunologic disorder resulting from pathogenic variants in the SASH3 gene. Affected individuals, typical...

Immunodeficiency 104 is a form of severe combined immunodeficiency characterized by a lack of T cells while B cells and natural killer cells remain pr...

Immunodeficiency 114, folate-responsive is a multisystem condition that affects immune function, hematologic parameters, and neurological development....

Immunodeficiency 14, also known as Activated Phosphoinositide 3-Kinase Delta Syndrome (APDS), is an immune system disorder characterized by a predispo...

Immunodeficiency 18 is an autosomal recessive primary immunodeficiency that primarily affects infants and young children, leading to recurrent infecti...

Immunodeficiency 25 is a form of severe combined immunodeficiency caused by mutations in the CD247 gene, which plays a critical role in the immune sys...

Immunodeficiency 31B is a condition affecting the immune system and is associated with an increased susceptibility to viral and mycobacterial infectio...

Immunodeficiency 32B is a rare, progressive disorder that emerges following a primary Epstein-Barr virus infection, leading to an uncontrolled lymphop...

Immunodeficiency 36 with lymphoproliferation is a primary immunodeficiency disorder that affects the immune system and is caused by mutations in the P...