Article

Phenotypic variability in patients with ADA2 deficiency due to identical homozygous R169Q mutations

2015-09-28

Abstract excerpt

Deficiency of adenosine deaminase-2 (ADA2) is a recently described autoinflammatory disorder with cutaneous inflammatory disease, febrile episodes, cytopenias, splenomegaly and early-onset stroke. Several homozygous and compound heterozygous mutations in CECR1 have been reported in these patients; however, pathogenesis is still poorly understood.

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Identifiers and source

Literature Corpus work: 3b425cdb-2789-59d2-9385-93a6eb21ab93
DOI: 10.1186/1546-0096-13-s1-o7

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