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, 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. 2020 Jan;40(1):223–6.
Göschl, Lisa, 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, vol. 40, no. 1, Jan. 2020, pp. 223–26. Pubmed, doi: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.
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