![]() ![]() Other features include ophthalmologic involvement, various degrees of lymphopenia, hypogammaglobulinemia (usually IgM), hepatosplenomegaly, portal hypertension, and neutropenia. Acute-phase reactants are typically elevated. The livedoid rash is also a prominent feature during inflammatory episodes, and biopsies demonstrate a predominance of neutrophils and macrophages as well as vasculitis in medium-sized vessels. The lacunar strokes, typically affecting the deep brain nuclei and the brainstem, transpire before age 5 yr and typically occur during inflammatory episodes. ![]() DADA2 presents with recurrent fevers and a spectrum of vascular manifestations that includes livedo racemosa, early-onset ischemic lacunar strokes, and systemic vasculitis of medium side vessels similar to polyarteritis nodosa. Kliegman MD, in Nelson Textbook of Pediatrics, 2020 Deficiency of Adenosine Deaminase 2ĭADA2 is an autoinflammatory disorder caused by loss-of-function mutations in CECR1, encoding adenosine deaminase 2. HSCT has been successful in 2 patients as well.īibliography is available at Expert Consult. Treatment with chronic long-term corticosteroids and anti-TNF-α agents have shown modest control of disease manifestations. ![]() Immunodeficiency consists of hypogammaglobulinemia and variable decreases in IgM. Nephrogenic hypertension is common and can be associated with glomerulosclerosis or amyloidosis. GI manifestations include hepatosplenomegaly, gastritis, bowel perforation, and portal hypertension. CNS involvement is variable but can include transient ischemic attacks and ischemic or hemorrhagic stroke. Skin manifestations include livedo reticularis, maculopapular rash, nodules, purpura, erythema nodosum, Raynaud phenomenon, ulcerative lesions, and digital necrosis. DADA2 is characterized by chronic or recurrent inflammation with elevated acute-phase reactants and fever. The pathogenesis is not exactly known, but ADA2 is mostly secreted by myeloid cells, and deficiency leads to upregulation of proinflammatory genes and increased secretion of proinflammatory cytokines. ADA2 is important in purine metabolism converting adenosine to inosine and 2′-deoxyadenosine to 2′-deoxyinosine. DADA2 is secondary to autosomal recessive mutations in cat-eye syndrome chromosome region 1 ( CECR1), mapped to chromosome 22q11.1. Kliegman MD, in Nelson Textbook of Pediatrics, 2020 Deficiency of Adenosine Deaminase 2 (DADA2)ĭeficiency in ADA2 is a cause of early vasculopathy, stroke, and immunodeficiency. ![]()
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