XIAP

X-linked inhibitor of apoptosis
OMIM: 300079
PanelMode of inheritanceDetails
1 panel
R-numbers: R15
Signed-off version 2.1
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes
Lymphoproliferative syndrome, X-linked, 2, 300635, Lymphoproliferative syndrome, X-linked, 2 (XLP2), X-linked lymphoproliferative syndrome (XLP), haemophagocytic lymphohistiocytosis, inflammatory bowel disease, splenomegaly, EBV infection, Splenomegaly, lymphoproliferation, HLH, Colitis, IBD, hepatitis, Low iNKT cells, hypogammaglobulinemia, Diseases of Immune Dysregulation