Disorders of immune dysregulation

Gene: ADA2

Green List (high evidence)

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

• 24552284
• 24552285

Green List (high evidence)

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: Literature

Created: 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

• 26922074
• 29963054
• 32659374
• 24552284
• 28493328
• 28493328