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Article

Deficiency of Adenosine Deaminase 2 Causes Antibody Deficiency.

Journal of clinical immunology - 1 Apr 2016

Schepp Johanna, Bulashevska Alla, Mannhardt-Laakmann Wilma, Cao Hongzhi, Yang Fang, Seidl Maximilian, Kelly Susan, Hershfield Michael, Grimbacher Bodo

Abstract excerpt

PURPOSE: Determining the monogenic cause of antibody deficiency and immune dysregulation in a non-consanguineous family with healthy parents, two affected children, and one unaffected child. METHODS: Whole Exome Sequencing (WES) was performed in the index family. WES results were confirmed by Sanger Sequencing. Dried plasma spots of the male patient and his mother were analyzed for ADA2 enzymatic activity....

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 26922074
DOI: 10.1007/s10875-016-0245-x

Genes

ADA2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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