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Article

Novel Mutation in CECR1 Leads to Deficiency of ADA2 with Associated Neutropenia.

Journal of clinical immunology - 1 Apr 2018

Cipe Funda Erol, Aydogmus Cigdem, Serwas Nina K, Keskindemirci Gonca, Boztuğ Kaan

Abstract excerpt

PURPOSE: Adenosine deaminase 2 (ADA2) have been reported to cause vasculitic diseases and immunodeficiency recently. Patients present with stroke episodes and rashes mimicking polyarteritis nodosa (PAN). We report a patient who has been followed up with severe neutropenia and found an unexpectedly revealed novel mutation in CECR1 affecting ADA2. METHODS: We reviewed medical records and clinical history of the...

Read the complete abstract on PubMed

Topics

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 29564582
DOI: 10.1007/s10875-018-0487-x

Genes

ADA2
GFI1
HAX1
JAGN1
LAMTOR2
VPS45

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026.

Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

Novel Mutation in CECR1 Leads to Deficiency of ADA2 with Associated Neutropenia.PMID 29564582Read ↗

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

Deficiency of Adenosine Deaminase 2 (DADA2), an Inherited Cause of Polyarteritis Nodosa and a Mimic of Other Systemic Rheumatologic Disorders.Semantic proximity Read ↗

Novel mutation in CECR1 gene associated with deficiency of adenosine deaminase -2 presenting as severe congenital neutropeniaSemantic proximity Read ↗

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

Expanding spectrum of DADA2: a review of phenotypes, genetics, pathogenesis and treatment.Semantic proximity Read ↗

Deficiency of Adenosine Deaminase 2 (DADA2): Updates on the Phenotype, Genetics, Pathogenesis, and Treatment.Semantic proximity Read ↗

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

Monogenic polyarteritis: the lesson of ADA2 deficiency.Semantic proximity Read ↗

Refractory Pure Red Cell Aplasia Manifesting as Deficiency of Adenosine Deaminase 2Semantic proximity Read ↗

Mutations in CECR1 associated with a neutrophil signature in peripheral blood.Semantic proximity Read ↗

Novel Adenosine Deaminase 2 (ADA2) Mutations Associated With Hematological Manifestations.Semantic proximity Read ↗

Autoimmune phenotype with type I interferon signature in two brothers with ADA2 deficiency carrying a novel CECR1 mutation.Semantic proximity Read ↗

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