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Published in: Journal of Clinical Immunology 1/2020

01-01-2020 | Infliximab | Letter to Editor

Unreported Missense Mutation in the Dimerization Domain of ADA2 Leads to ADA2 Deficiency Associated with Severe Oral Ulcers and Neutropenia in a Female Somalian Patient—Addendum to the Genotype-Phenotype Puzzle

Authors: Lisa Göschl, Stefan Winkler, Jasmin Dmytrus, Raul Jimenez Heredia, Heimo Lagler, Michael Ramharter, Clemens Scheinecker, Michael Bonelli, Klaus Schmetterer, Winfried F. Pickl, Katharina Grabmeier-Pfistershammer, Michael S. Hershfield, Kaan Boztug, Elisabeth Förster-Waldl, Guido A. Gualdoni

Published in: Journal of Clinical Immunology | Issue 1/2020

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Excerpt

To the Editor, …
Appendix
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Literature
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go back to reference 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.CrossRef 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.CrossRef
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go back to reference Moens L, Hershfield M, Arts K, Aksentijevich I, Meyts I. Human adenosine deaminase 2 deficiency: a multi-faceted inborn error of immunity. Immunol Rev. 2019;287:62–72.CrossRef Moens L, Hershfield M, Arts K, Aksentijevich I, Meyts I. Human adenosine deaminase 2 deficiency: a multi-faceted inborn error of immunity. Immunol Rev. 2019;287:62–72.CrossRef
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go back to reference Meyts I, Aksentijevich I. Deficiency of adenosine deaminase 2 (DADA2): updates on the phenotype, genetics, pathogenesis, and treatment. J Clin Immunol. 2018;38:569–78.CrossRef Meyts I, Aksentijevich I. Deficiency of adenosine deaminase 2 (DADA2): updates on the phenotype, genetics, pathogenesis, and treatment. J Clin Immunol. 2018;38:569–78.CrossRef
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go back to reference 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;38:273–7.CrossRef 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;38:273–7.CrossRef
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go back to reference Zavialov AV, Yu X, Spillmann D, Lauvau G, Zavialov AV. Structural basis for the growth factor activity of human adenosine deaminase ADA2. J Biol Chem. 2010;285:12367–77.CrossRef Zavialov AV, Yu X, Spillmann D, Lauvau G, Zavialov AV. Structural basis for the growth factor activity of human adenosine deaminase ADA2. J Biol Chem. 2010;285:12367–77.CrossRef
Metadata
Title
Unreported Missense Mutation in the Dimerization Domain of ADA2 Leads to ADA2 Deficiency Associated with Severe Oral Ulcers and Neutropenia in a Female Somalian Patient—Addendum to the Genotype-Phenotype Puzzle
Authors
Lisa Göschl
Stefan Winkler
Jasmin Dmytrus
Raul Jimenez Heredia
Heimo Lagler
Michael Ramharter
Clemens Scheinecker
Michael Bonelli
Klaus Schmetterer
Winfried F. Pickl
Katharina Grabmeier-Pfistershammer
Michael S. Hershfield
Kaan Boztug
Elisabeth Förster-Waldl
Guido A. Gualdoni
Publication date
01-01-2020
Publisher
Springer US
Published in
Journal of Clinical Immunology / Issue 1/2020
Print ISSN: 0271-9142
Electronic ISSN: 1573-2592
DOI
https://doi.org/10.1007/s10875-019-00700-w

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