Autoinflammatory disorders
Gene: ADAComment on list classification: New gene added to this panel by Lauma Freimane (Children's Clinical University Hospital). Biallelic variants are associated with partial ADA deficiency or severe combined immunodeficiency (SCID) due to ADA deficiency with multiple unrelated cases reported.
Despite ADA null mice displaying severe pulmonary inflammation, could not find evidence of an autoinflammatory component observed in patients and therefore rating as Red on this panelCreated: 16 Apr 2024, 2:13 p.m. | Last Modified: 16 Apr 2024, 2:13 p.m.
Panel Version: 1.12
Sources: LiteratureCreated: 19 Jun 2023, 1:18 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
T(-), B(-), NK(-) severe combin immunodeficiency
Publications
Phenotypes for gene: ADA were changed from T(-), B(-), NK(-) severe combin immunodeficiency to Severe combined immunodeficiency due to ADA deficiency, OMIM:102700; Adenosine deaminase deficiency, partial, OMIM:102700
Gene: ada has been classified as Red List (Low Evidence).
gene: ADA was added gene: ADA was added to Autoinflammatory disorders. Sources: Literature Mode of inheritance for gene: ADA was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ADA were set to 32098966 Phenotypes for gene: ADA were set to T(-), B(-), NK(-) severe combin immunodeficiency Review for gene: ADA was set to GREEN