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

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

doi:10.1007/s10875-019-00700-w

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

J Clin Immunol. 2020 Jan;40(1):223-226. doi: 10.1007/s10875-019-00700-w. Epub 2019 Nov 4.

Authors

Lisa Göschl¹, Stefan Winkler², Jasmin Dmytrus^{3

4}, Raul Jimenez Heredia^{3

4}, Heimo Lagler², Michael Ramharter^{2

5

6}, Clemens Scheinecker¹, Michael Bonelli¹, Klaus Schmetterer⁷, Winfried F Pickl⁸, Katharina Grabmeier-Pfistershammer⁸, Michael S Hershfield⁹, Kaan Boztug^{3

4

10

11}, Elisabeth Förster-Waldl^{12

13

14}, Guido A Gualdoni^{2

15}

Affiliations

¹ Division of Rheumatology, Department of Medicine III, Medical University of Vienna, Vienna, Austria.
² Division of Infectious Diseases and Tropical Medicine, Department of Medicine I, Medical University of Vienna, Vienna, Austria.
³ CeMM Research Center for Molecular Medicine of the Austrian Academy of Science, Vienna, Austria.
⁴ Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases, Vienna, Austria.
⁵ Department of Tropical Medicine, Bernhard Nocht Institute for Tropical Medicine, Hamburg, Germany.
⁶ First Department of Medicine, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
⁷ Department of Laboratory Medicine, Medical University of Vienna, Vienna, Austria.
⁸ Institute of Immunology, Centre of Pathophysiology, Infectiology and Immunology, Medical University of Vienna, Vienna, Austria.
⁹ Department of Medicine and Biochemistry, Duke University Medical Center, Durham, NC, USA.
¹⁰ Department of Pediatrics and Adolescent Medicine, Medical University of Vienna, Vienna, Austria.
¹¹ Children's Cancer Research Institute and St. Anna Kinderspital, Department of Pediatrics, Medical University of Vienna, Vienna, Austria.
¹² Department of Pediatrics and Adolescent Medicine, Medical University of Vienna, Vienna, Austria. elisabeth.foerster-waldl@meduniwien.ac.at.
¹³ Division of Neonatology, Pediatric Intensive Care & Neuropediatrics, Department of Pediatrics and Adolescent Medicine, Medical University of Vienna, Währinger Gürtel 18-20, A-1090, Vienna, Austria. elisabeth.foerster-waldl@meduniwien.ac.at.
¹⁴ Center for Congenital Immunodeficiencies, Medical University of Vienna & Jeffrey Modell Diagnostic and Research Center, Vienna, Austria. elisabeth.foerster-waldl@meduniwien.ac.at.
¹⁵ Division of Nephrology and Dialysis, Department of Medicine III, Medical University of Vienna, Vienna, Austria.

PMID: 31686313
DOI: 10.1007/s10875-019-00700-w

No abstract available

Publication types

Letter
Research Support, Non-U.S. Gov't

MeSH terms

Adenosine Deaminase / deficiency*
Adenosine Deaminase / genetics*
Agammaglobulinemia / genetics
Dimerization
Female
Genotype
Humans
Intercellular Signaling Peptides and Proteins / deficiency*
Intercellular Signaling Peptides and Proteins / genetics*
Mutation, Missense / genetics*
Neutropenia / genetics*
Oral Ulcer / genetics*
Phenotype
Severe Combined Immunodeficiency / genetics

Substances

Intercellular Signaling Peptides and Proteins
ADA2 protein, human
Adenosine Deaminase

Supplementary concepts

Severe combined immunodeficiency due to adenosine deaminase deficiency