SASH3
Function
May function as a signaling adapter protein in lymphocytes.
Involvement in disease
Immunodeficiency 102
IMD102
An X-linked recessive disorder characterized by recurrent sinopulmonary, cutaneous and mucosal infections, and refractory autoimmune cytopenias that appear in early childhood. Affected individuals have bacterial, viral, and fungal infections, as well as hemolytic anemia, thrombocytopenia, lymphopenia, and decreased NK cells. The disorder may also manifest as a hyperinflammatory state with immune dysregulation.
None
The disease is caused by variants affecting the gene represented in this entry.
Alternative names
CXorf9, SLY, SASH3, SAM and SH3 domain-containing protein 3, SH3 protein expressed in lymphocytes homolog