Immunodeficiency 102

An X-linked recessive immunologic disorder characterized by the onset of recurrent sinopulmonary, mucosal, and other infections in early childhood, usually accompanied by refractory autoimmune cytopenias. Affected individuals have bacterial, viral, and fungal infections, as well as hemolytic anemia, thrombocytopenia, lymphopenia, and decreased NK cells. Laboratory studies show defective T-cell proliferation and function, likely due to signaling abnormalities. The disorder may also manifest as a hyperinflammatory state with immune dysregulation.

Also known as: IMD102, SASH3 deficiency, X-linked CID due to SASH3 deficiency, X-linked combined immunodeficiency due to SASH3 deficiency, immunodeficiency 102

0 clinical trials for this condition and its sub-types, 0 tagged with Immunodeficiency 102 itself.