has material basis in germline mutation in SASH3 immunodeficiency disease immunodeficiency 102 https://github.com/monarch-initiative/mondo/issues/5261 https://www.malacards.org/card/immunodeficiency_102 DOID:0061072 MONDO:0024781 GARD:0026075 X-linked CID due to SASH3 deficiency SASH3 deficiency Orphanet:653751 MEDGEN:1812534 OMIM:301082 IMD102 UMLS:C5676886 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. immunodeficiency 102 X-linked combined immunodeficiency due to SASH3 deficiency