Disorders of immune dysregulation
Gene: FADD
3 families reported so far. 2 apparently unrelated consanguineous Pakistani families with autoimmune lymphoproliferative syndrome both segregating homozygous p.Cys105Trp. A single compound het case with p.Cys105Arg and a frameshift variant. Also, FADD deficient mouse models support a role in immunodeficiency. Null mice are embryonic lethal.Created: 20 Apr 2022, 12:11 a.m. | Last Modified: 20 Apr 2022, 12:11 a.m.
Panel Version: 0.129
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
FADD-related immunodeficiency MONDO:0013408
Publications
Gene: fadd has been classified as Green List (High Evidence).
Phenotypes for gene: FADD were changed from to FADD-related immunodeficiency MONDO:0013408
Publications for gene: FADD were set to
Mode of inheritance for gene: FADD was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
gene: FADD was added gene: FADD 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: FADD was set to Unknown