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.

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]