Disorders of immune dysregulation
Gene: XIAP

XIAP (X-linked inhibitor of apoptosis)
EnsemblGeneIds (GRCh38): ENSG00000101966
EnsemblGeneIds (GRCh37): ENSG00000101966
OMIM: 300079, Gene2Phenotype
XIAP is in 10 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

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

Created: 3 Mar 2022, 7:41 a.m.
Last Modified: 3 Mar 2022, 7:41 a.m.
Panel version: 0.106

Details

Mode of Inheritance

X-LINKED: hemizygous mutation in males, biallelic mutations in females

Sources

Expert Review Green
Melbourne Genomics Health Alliance Immunology Flagship
Victorian Clinical Genetics Services

Phenotypes

Lymphoproliferative syndrome, X-linked, 2, MIM# 300635

Tags

treatable

OMIM

300079

Clinvar variants

Variants in XIAP

Penetrance

None

Publications

Panels with this gene