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.
MONDO:0021094
immunodeficiency disease
is_a
IMD102
exact
SASH3 deficiency
exact
X-linked CID due to SASH3 deficiency
exact
X-linked combined immunodeficiency due to SASH3 deficiency
exact
immunodeficiency 102
exact