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01-11-2019 | Stroke | Letter to Editor

Homozygous Splice ADA2 Gene Mutation Causing ADA-2 Deficiency

Authors: Herberto Jose Chong-Neto, Gesmar Rodrigues Silva Segundo, Márcia Bandeira, Débora Carla Chong-Silva, Cristine Secco Rosário, Carlos A. Riedi, Michael S. Hershfield, Hans Ochs, Troy Torgerson, Nelson Augusto Rosário

Published in: Journal of Clinical Immunology | Issue 8/2019

Excerpt

To the Editor: …

Zhou Q, Yang D, Ombrello AK, Zavialov AV, Toro C, Zavialov AV, et al. Early-onset stroke and vasculopathy associated with mutations in ADA2. N Engl J Med. 2014;370:911–20. https://doi.org/10.1056/NEJMoa1307361.CrossRefPubMedPubMedCentral

Navon Elkan P, Pierce SB, Segel R, Walsh T, Barash J, Padeh S, et al. Mutant adenosine deaminase 2 in a polyarteritis nodosa vasculopathy. N Engl J Med. 2014;370:921–31. https://doi.org/10.1056/NEJMoa1307362.CrossRefPubMed

Meyts I, Aksentijevich I. Deficiency of adenosine deaminase 2 (DADA2): updates on the phenotype, genetics, pathogenesis, and treatment. J Clin Immunol. 2018;38(5):569–78. https://doi.org/10.1007/s10875-018-0525-8.CrossRefPubMedPubMedCentral

Batu ED, Karadag O, Taskiran EZ, Kalyoncu U, Aksentijevich I, Alikasifoglu M, et al. A case series of adenosine deaminase 2- deficient patients emphasizing treatment and genotype-phenotype correlations. J Rheumatol. 2015;42(8):1532–4. https://doi.org/10.3899/jrheum.150024.CrossRefPubMed

Michniacki TF, Hannibal M, Ross CW, Frame DG, DuVall AS, Khoriaty R, et al. Hematologic manifestations of deficiency of adenosine deaminase 2 (DADA2) and response to tumor necrosis factor inhibition in DADA2-associated bone marrow failure. J Clin Immunol. 2018;38:166–73. https://doi.org/10.1007/s10875-018-0480-4.CrossRefPubMed

Cipe FE, Aydogmus C, Serwas NK, Keskindemirci G, Boztuğ K. Novel mutation in CECR1 leads to deficiency of ADA2 with associated neutropenia. J Clin Immunol. 2018;38(3):273–7. https://doi.org/10.1007/s10875-018-0487-x.CrossRefPubMed

Fayand A, Sarrabay G, Belot A, Hentgen V, Kone-Paut I, Grateau G, et al. Multiple facets of ADA2 deficiency: vasculitis, auto-inflammatory disease and immunodeficiency: a literature review of 135 cases from literature. Rev Med Interne. 2018;39(4):297–306. https://doi.org/10.1016/j.revmed.2017.11.006.CrossRefPubMed

Krawczak M, Thomas NS, Hundrieser B, Mort M, Wittig M, Hampe J, et al. Single base-pair substitutions in exon-intron junctions of human genes: nature, distribution, and consequences for mRNA splicing. Hum Mutat. 2007;28:150–8. https://doi.org/10.1002/humu.20400.CrossRefPubMed

Schepp J, Proietti M, Frede N, Buchta M, Hubscher K, Rojas Restrepo J, et al. Screening of 181 patients with antibody deficiency for deficiency of adenosine deaminase 2 sheds new light on the disease in adulthood. Arthritis Rheum. 2017;69(8):1689–700. https://doi.org/10.1002/art.40147.CrossRef

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Arts K, Bergerson JRE, Ombrello AK, Similuk M, Oler AJ, Agharahimi A, et al. Warts and DADA2: a mere coincidence? J Clin Immunol. 2018;38:836–43. https://doi.org/10.1007/s10875-018-0565-0.CrossRefPubMed

11.

Hashem H, Kumar AR, Muller I, Babor F, Bredius R, Dalal J, et al. Hematopoietic stem cell transplantation rescues the hematological, immunological, and vascular phenotype in DADA2. Blood. 2017;130(24):2682–8. https://doi.org/10.1182/blood-2017-07-798660.CrossRefPubMedPubMedCentral

12.

Van Eyck L Jr, Hershfield MS, Pombal D, Kelly SJ, Ganson NJ, Moens L, et al. Hematopoietic stem cell transplantation rescues the immunologic phenotype and prevents vasculopathy in patients with adenosine deaminase 2 deficiency. J Allergy Clin Immunol. 2015;135(1):283–7 e5. https://doi.org/10.1016/j.jaci.2014.10.010.CrossRefPubMedPubMedCentral

Title: Homozygous Splice ADA2 Gene Mutation Causing ADA-2 Deficiency
Authors: Herberto Jose Chong-Neto
Gesmar Rodrigues Silva Segundo
Márcia Bandeira
Débora Carla Chong-Silva
Cristine Secco Rosário
Carlos A. Riedi
Michael S. Hershfield
Hans Ochs
Troy Torgerson
Nelson Augusto Rosário
Publication date: 01-11-2019
Publisher: Springer US
Keywords: Stroke
Immunodeficiency
Cerebral Hemorrhage
Published in: Journal of Clinical Immunology / Issue 8/2019
Print ISSN: 0271-9142
Electronic ISSN: 1573-2592
DOI: https://doi.org/10.1007/s10875-019-00697-2

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