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Specialty: Allergy & Immunology
Procedure: Bone Marrow Aspiration and Biopsy
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Total 1 results found since Jan 2013.
Case Report: Interindividual variability and possible role of heterozygous variants in a family with deficiency of adenosine deaminase 2: are all heterozygous born equals?
In conclusion, this familiar case demonstrated the wide range of phenotypic variability in DADA2. The search for ADA2 mutations and the assessment of ADA2 activity should be considered also in patients with the association of hypogammaglobulinemia and inflammatory conditions, also with late presentation and in absence of vasculitis. Furthermore, the clinical picture of the deceased carrier suggests a possible contribution of heterozygous pathogenic variants to inflammation.
Source: Frontiers in Immunology - May 3, 2023 Category: Allergy & Immunology Source Type: research
