Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
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Vasculitis due to ADA2 deficiency

ADA2 deficiency is an autosomal recessive disorder caused by mutations of the ADA2 gene. The syndromic disease includes vasculitis, autoinflammation, immunodeficiency, and hematologic defects.


Autoinflammatory disease
Autoinflammation with arthritis and dyskeratosis
Autoinflammation, antibody deficiency, and immune dysregulation syndrome
Autoinflammatory periodic fever, immunodeficiency, and thrombocytopenia
CARD14 associated psoriasis
Chronic recurrent multifocal osteomyelitis
Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
Cryopyrin-associated periodic syndrome
Familial cold autoinflammatory syndromes
Familial mediterranean fever
Hereditary pediatric Behçet-like disease
Infantile-onset periodic fever-panniculitis-dermatosis syndrome
Inflammatory bowel disease
Interleukin 10 deficiency
Interleukin 10 receptor deficiency
Interleukin-1 receptor antagonist deficiency
Mevalonate kinase-associated inflammatory diseases
Periodic fever-infantile enterocolitis-autoinflammatory syndrome
Proteasome-associated autoinflammatory syndrome
Pyogenic arthritis-pyoderma gangrenosum-acne syndrome
SH3BP2 deficienc with multilocular cysticy disease of the mandibles
STING-associated vasculopathy with onset in infancy
Singleton-Merten syndrome
Susceptibility to malignant hyperthermia 5
Susceptibility to rheumatoid arthritis
Systemic-onset juvenile idiopathic arthritis
TNF receptor-associated periodic syndrome
Vasculitis due to ADA2 deficiency



Zhou Q et. al. (2014) Early-onset stroke and vasculopathy associated with mutations in ADA2.


Navon Elkan P et. al. (2014) Mutant adenosine deaminase 2 in a polyarteritis nodosa vasculopathy.


Van Montfrans JM et. al. (2016) Phenotypic variability in patients with ADA2 deficiency due to identical homozygous R169Q mutations.


None (2018) Vasculopathy, Immunodeficiency, and Bone Marrow Failure: The Intriguing Syndrome Caused by Deficiency of Adenosine Deaminase 2.


van Montfrans J et. al. (2014) Mutant ADA2 in vasculopathies.


Van Eyck L et. al. (2014) Mutant ADA2 in vasculopathies.


Van Eyck L et. al. (2014) Mutant ADA2 in vasculopathies.

Update: Aug. 14, 2020
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