Skip to main content
Journal cover image

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.

Publication ,  Journal Article
Göschl, L; Winkler, S; Dmytrus, J; Heredia, RJ; Lagler, H; Ramharter, M; Scheinecker, C; Bonelli, M; Schmetterer, K; Pickl, WF; Hershfield, MS ...
Published in: J Clin Immunol
January 2020

Duke Scholars

Published In

J Clin Immunol

DOI

EISSN

1573-2592

Publication Date

January 2020

Volume

40

Issue

1

Start / End Page

223 / 226

Location

Netherlands

Related Subject Headings

  • Severe Combined Immunodeficiency
  • Phenotype
  • Oral Ulcer
  • Neutropenia
  • Mutation, Missense
  • Intercellular Signaling Peptides and Proteins
  • Immunology
  • Humans
  • Genotype
  • Female
 

Citation

APA
Chicago
ICMJE
MLA
NLM
Göschl, L., Winkler, S., Dmytrus, J., Heredia, R. J., Lagler, H., Ramharter, M., … Gualdoni, G. A. (2020). 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, 40(1), 223–226. https://doi.org/10.1007/s10875-019-00700-w
Göschl, Lisa, Stefan Winkler, Jasmin Dmytrus, Raul Jimenez Heredia, Heimo Lagler, Michael Ramharter, Clemens Scheinecker, et al. “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 40, no. 1 (January 2020): 223–26. https://doi.org/10.1007/s10875-019-00700-w.
Göschl L, Winkler S, Dmytrus J, Heredia RJ, Lagler H, Ramharter M, Scheinecker C, Bonelli M, Schmetterer K, Pickl WF, Grabmeier-Pfistershammer K, Hershfield MS, Boztug K, Förster-Waldl E, Gualdoni GA. 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.
Journal cover image

Published In

J Clin Immunol

DOI

EISSN

1573-2592

Publication Date

January 2020

Volume

40

Issue

1

Start / End Page

223 / 226

Location

Netherlands

Related Subject Headings

  • Severe Combined Immunodeficiency
  • Phenotype
  • Oral Ulcer
  • Neutropenia
  • Mutation, Missense
  • Intercellular Signaling Peptides and Proteins
  • Immunology
  • Humans
  • Genotype
  • Female