ArticleJournal of clinical immunology2018
Novel Mutation in CECR1 Leads to Deficiency of ADA2 with Associated Neutropenia.
Article in Journal of clinical immunology, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers, 1 of them a synthesis that pooled it.
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Who cites it
19 citing papers in PubMed, 1 synthesis or guideline pooled it, 40 citations in OpenAlex.
- A wide spectrum of phenotype of deficiency of deaminase 2 (DADA2): a systematic literature review.Orphanet journal of rare diseases · 2023Pooled it
- Article
- Pathogenic variant c.1052T>A (p.Leu351Gln) in adenosine deaminase 2 impairs secretion and elevates type I IFN responsive gene expression.Frontiers in immunology · 2022Article
- Deficiency of Human Adenosine Deaminase Type 2 - A Diagnostic Conundrum for the Hematologist.Frontiers in immunology · 2022Review
- Adenosine Deaminase 2 Deficiency (DADA2): A Crosstalk Between Innate and Adaptive Immunity.Frontiers in immunology · 2022Review
- Expanding spectrum of DADA2: a review of phenotypes, genetics, pathogenesis and treatment.Clinical rheumatology · 2021Review
- Adult-onset deficiency of adenosine deaminase 2-a case report and literature review.Clinical rheumatology · 2021Review
- Immunodeficiency and bone marrow failure with mosaic and germline TLR8 gain of function.Blood · 2021Article
- Deficiency of Adenosine Deaminase 2 in Adults and Children: Experience From India.Arthritis & rheumatology (Hoboken, N.J.) · 2021Article
- The Many Faces of a Monogenic Autoinflammatory Disease: Adenosine Deaminase 2 Deficiency.Current rheumatology reports · 2020Review
- Genotype and functional correlates of disease phenotype in deficiency of adenosine deaminase 2 (DADA2).The Journal of allergy and clinical immunology · 2020Article
- Role of adenosine deaminase 2 gene variants in pediatric deficiency of adenosine deaminase 2: A structural biological approach.Molecular medicine reports · 2020Article
- Recent advances in primary immunodeficiency: from molecular diagnosis to treatment.F1000Research · 2020Review
- Homozygous Splice ADA2 Gene Mutation Causing ADA-2 Deficiency.Journal of clinical immunology · 2019Article
- Biochemistry of Autoinflammatory Diseases: Catalyzing Monogenic Disease.Frontiers in immunology · 2019Review
- Warts and DADA2: a Mere Coincidence?Journal of clinical immunology · 2018Article
- Deficiency of Adenosine Deaminase 2 (DADA2): Updates on the Phenotype, Genetics, Pathogenesis, and Treatment.Journal of clinical immunology · 2018Review
- ALPS-Like Phenotype Caused by ADA2 Deficiency Rescued by Allogeneic Hematopoietic Stem Cell Transplantation.Frontiers in immunology · 2018Article
- Novel Adenosine Deaminase 2 (ADA2) Mutations Associated With Hematological Manifestations.Journal of investigative medicine high impact case reportsArticle
Corrections and comments
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Authors and funding
5 authors at 3 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
purposeAdenosine 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.
methodsWe reviewed medical records and clinical history of the patient. No mutations in other known neutropenia genes such as ELA, G6PC3, HAX1, AP3B1, LAMTOR2, VPS13B, VPS45, GFI1, JAGN1, or WAS could be detected. Sanger sequencing was used to confirm the genetic variants in the patient and relatives.
resultsGenetic analysis by exome sequencing revealed a novel mutation in the gene CECR1 (c.G962A; p.G321E) which segregated perfectly in the relatives.
conclusionThis is the first DADA2 patient presenting with severe neutropenia. We suggest that in patients with unexplained cytopenias combined with immunodeficiency, fevers of unknown origin and high inflammation markers, DADA2 should be considered.
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