Autoimmune Lymphoproliferative Syndrome
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.
Sources: LiteratureCreated: 22 Nov 2024, 4:46 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
FADD-related immunodeficiency MONDO:0013408
Publications
Variants in this GENE are reported as part of current diagnostic practice
Gene: fadd has been classified as Green List (High Evidence).
Gene: fadd has been classified as Green List (High Evidence).
gene: FADD was added gene: FADD was added to Autoimmune Lymphoproliferative Syndrome. Sources: Literature Mode of inheritance for gene: FADD was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FADD were set to 21109225; 25794656; 32350755; 32971525 Phenotypes for gene: FADD were set to FADD-related immunodeficiency MONDO:0013408 Review for gene: FADD was set to GREEN gene: FADD was marked as current diagnostic