Bone Marrow Failure

Gene: ADA2

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME; SNEDDON SYNDROME

Publications

• 25075847
• 30406060
• 12804991
• 24552285
• 10756095
• 31652311
• 26867732
• 15926889
• 20147294
• 24552284

Variants in this GENE are reported as part of current diagnostic practice

Green List (high evidence)

Vasculitis, autoinflammation, immunodeficiency, and haematologic 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. Some affected individuals have immunodeficiency.

At least 10 unrelated families reported, the p.Gly47Arg variant is a common founder variant in the Jewish population.

Created: 15 Jun 2021, 9:49 a.m. | Last Modified: 15 Jun 2021, 9:49 a.m.

Panel Version: 0.220

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Vasculitis, autoinflammation, immunodeficiency, and haematologic defects syndrome, MIM# 615688

Publications

• 24552284
• 24552285
• 33791889