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Article

Novel compound heterozygous variants in CECR1 gene associated with childhood onset polyarteritis nodosa and deficiency of ADA2.

Rheumatology (Oxford, England) - 1 Jun 2016

Keer Nikky, Hershfield Michael, Caskey Thomas, Unizony Sebastian

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Topics

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Share to Adaptor Proteins, Signal Transducing
Share to Adenosine Deaminase
Share to DNA-Binding Proteins
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 27069017
DOI: 10.1093/rheumatology/kew050

Genes

ADA2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

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Novel compound heterozygous variants in CECR1 gene associated with childhood onset polyarteritis nodosa and deficiency of ADA2.PMID 27069017Read ↗

Diagnosis of deficiency of adenosine deaminase 2 with early onset polyarteritis nodosa in an adult patient with a novel compound heterozygous CECR1 mutation.Semantic proximity Read ↗

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Update on CECR1 molecular diagnostics: new mutations in the deficiency of ADA2 (DADA2) and the North American polyarteritis nodosa (PAN) cohortSemantic proximity Read ↗

Dermatologic Features of ADA2 Deficiency in Cutaneous Polyarteritis Nodosa.Semantic proximity Read ↗

A new CECR1 mutation associated with severe hematological involvement in ADA2 deficiency.Semantic proximity Read ↗

Two cases of ADA2 deficiency presenting as childhood polyarteritis nodosa: novel ADA2 variant, atypical CNS manifestations, and literature reviewSemantic proximity Read ↗

Novel adenosine deaminase 2 mutations in a child with a fatal vasculopathy.Semantic proximity Read ↗

A new CECR1 mutation associated with severe hematological involvement in ADA2 deficiencySemantic proximity Read ↗

Deficiency of Adenosine Deaminase Type 2: A Description of Phenotype and Genotype in Fifteen Cases.Semantic proximity Read ↗

Identification of co-occurrence in a patient with Dent's disease and ADA2-deficiency by exome sequencing.Semantic proximity Read ↗

Novel CECR1 gene mutations causing deficiency of adenosine deaminase 2, mimicking antiphospholipid syndrome.Semantic proximity Read ↗

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