학술논문
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.
Document Type
Letter
Author
Göschl, Lisa; Winkler, Stefan; Dmytrus, Jasmin; Heredia, Raul Jimenez; Lagler, Heimo; Ramharter, Michael; Scheinecker, Clemens; Bonelli, Michael; Schmetterer, Klaus; Pickl, Winfried F.; Grabmeier-Pfistershammer, Katharina; Hershfield, Michael S.; Boztug, Kaan; Förster-Waldl, Elisabeth; Gualdoni, Guido A.
Source
Subject
*MISSENSE mutation
*FEBRILE neutropenia
*POLYARTERITIS nodosa
*WOMEN patients
*NEUTROPENIA
*DIMERIZATION
*ULCERS
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*
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Language
ISSN
0271-9142
Abstract
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 B The electropherogram of the reverse strand of ADA2 of patient and her heterozygous daughter. c The white blood count (WBC) measured in giga per liter (G/L) of the patient before and after the switch from cyclosporine A to TNF- blocking therapy. Despite this treatment, granulocyte levels could only be maintained at low-normal levels with continuous cortisone treatment and the patient was hospitalized several times in the subsequent 2 years for oral ulcers and severe bacterial skin abscesses. [Extracted from the article]