Immunodeficiency 102
Immunodeficiency 102
Definition
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, immunodeficiency 102, SASH3 deficiency, X-linked CID due to SASH3 deficiency, X-linked combined immunodeficiency due to SASH3 deficiency — per MONDO