Autoimmune Lymphoproliferative Syndrome
Gene: ADA2
PMID:39060684; 1x individual hom for Gly358Arg. 4x path in clinvar
PMID:29271561; 1x individual hom for c.882-2A>G. 5-year-old female who presented with features that mimicked autoimmune lymphoproliferative syndrome (ALPS) in the absence of classic features of DADA2
PMID:34721429; 2 sibs Chet for Leu188Phe and Thr187Pro and both had complete absence of inosine, an adenosine-derived product.
Leu188Phe is absent in gnomad v4 and clinvar. high conservation + 0.9 REVEL
Thr187Pro 1 het 0 homs in v4 and 1x clinvar citing this paper high conservation + 0.7 REVEL
PMID:30692987 ; 1x Chet Tyr456Cys and Trp399*. The missense 1x LP in clinvar by Invitae and 2 hets 0 homs in v4. high conservation + REVEL 0.7
Sources: LiteratureCreated: 15 Jan 2025, 12:41 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome MIM#615688
Publications
Variants in this GENE are reported as part of current diagnostic practice
Gene: ada2 has been classified as Green List (High Evidence).
Gene: ada2 has been classified as Green List (High Evidence).
gene: ADA2 was added gene: ADA2 was added to Autoimmune Lymphoproliferative Syndrome. Sources: Literature Mode of inheritance for gene: ADA2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ADA2 were set to 39060684; 29271561; 30692987; 34721429 Phenotypes for gene: ADA2 were set to Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome MIM#615688 Review for gene: ADA2 was set to GREEN gene: ADA2 was marked as current diagnostic