Autoinflammatory Disorders
Gene: ADA2
Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome (VAIHS) is an autosomal recessive multisystem disorder with onset in childhood. The phenotype is highly variable, but most patients have features of a systemic vascular inflammatory disorder with skin ulceration and recurrent strokes affecting the small vessels of the brain resulting in neurologic dysfunction. Other features may include recurrent fever, elevated acute-phase proteins, myalgias, lesions resembling polyarteritis nodosa, and/or livedo racemosa or reticularis with an inflammatory vasculitis on biopsy. Some patients may have renal and/or gastrointestinal involvement, hypertension, aneurysms, or ischemic necrosis of the digits.
More than 10 unrelated families reported. p.Gly47Arg is a founder variant in Georgian Jews.Created: 15 Oct 2022, 6:29 a.m. | Last Modified: 15 Oct 2022, 6:29 a.m.
Panel Version: 0.167
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Vasculitis, autoinflammation, immunodeficiency, and haematologic defects syndrome 615688
Publications
Clinical manifestations of deficiency of ADA2 (DADA2) include hypogammaglobulinemia and recurrent infections. At least 10 unrelated cases reported, of which 6 have a CVID diagnosis.
Sources: LiteratureCreated: 23 Jul 2020, 4:28 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome MIM#615688; common variable immunodeficiency
Publications
Gene: ada2 has been classified as Green List (High Evidence).
Phenotypes for gene: ADA2 were changed from to Vasculitis, autoinflammation, immunodeficiency, and haematologic defects syndrome, MIM# 615688
Publications for gene: ADA2 were set to
Mode of inheritance for gene: ADA2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
gene: ADA2 was added gene: ADA2 was added to Systemic autoinflammatory disease, Periodic fever_MelbourneGenomics_AustralianGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship Mode of inheritance for gene: ADA2 was set to Unknown