Back to Search
Start Over
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.
- Source :
-
Journal of clinical immunology [J Clin Immunol] 2020 Jan; Vol. 40 (1), pp. 223-226. Date of Electronic Publication: 2019 Nov 04. - Publication Year :
- 2020
- Subjects :
- Agammaglobulinemia genetics
Dimerization
Female
Genotype
Humans
Phenotype
Severe Combined Immunodeficiency genetics
Adenosine Deaminase deficiency
Adenosine Deaminase genetics
Intercellular Signaling Peptides and Proteins deficiency
Intercellular Signaling Peptides and Proteins genetics
Mutation, Missense genetics
Neutropenia genetics
Oral Ulcer genetics
Subjects
Details
- Language :
- English
- ISSN :
- 1573-2592
- Volume :
- 40
- Issue :
- 1
- Database :
- MEDLINE
- Journal :
- Journal of clinical immunology
- Publication Type :
- Report
- Accession number :
- 31686313
- Full Text :
- https://doi.org/10.1007/s10875-019-00700-w