Disorders of immune dysregulation
Gene: XIAP
XLP2 is an X-linked primary immune deficiency with symptom onset usually in the first years of life, although later onset may occur. Features are compatible with immune dysregulation and include hemophagocytic lymphohistiocytosis (HLH), often associated with chronic Epstein-Barr virus (EBV) infection, splenomegaly, fever, colitis or inflammatory bowel disease (IBD), and recurrent infections. More than 5 unrelated families reported.Created: 3 Mar 2022, 7:41 a.m. | Last Modified: 3 Mar 2022, 7:41 a.m.
Panel Version: 0.106
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Lymphoproliferative syndrome, X-linked, 2, MIM# 300635
Publications
Gene: xiap has been classified as Green List (High Evidence).
Tag treatable tag was added to gene: XIAP.
Phenotypes for gene: XIAP were changed from to Lymphoproliferative syndrome, X-linked, 2, MIM# 300635
Publications for gene: XIAP were set to 22228567; 25943627
Publications for gene: XIAP were set to
Mode of inheritance for gene: XIAP was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
gene: XIAP was added gene: XIAP was added to Disorders of immune dysregulation_MGHA_AGHA_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship Mode of inheritance for gene: XIAP was set to Unknown