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Article

B-cell deficiency and severe autoimmunity caused by deficiency of protein kinase C δ.

Blood - 18 Apr 2013

Salzer Elisabeth, Santos-Valente Elisangela, Klaver Stefanie, Ban Sol A, Emminger Wolfgang, Prengemann Nina Kathrin, Garncarz Wojciech, Müllauer Leonhard, Kain Renate, Boztug Heidrun, Heitger Andreas, Arbeiter Klaus, Eitelberger Franz, Seidel Markus G, Holter Wolfgang, Pollak Arnold, Pickl Winfried F, Förster-Waldl Elisabeth, Boztug Kaan

Abstract excerpt

Primary B-cell disorders comprise a heterogeneous group of inherited immunodeficiencies, often associated with autoimmunity causing significant morbidity. The underlying genetic etiology remains elusive in the majority of patients. In this study, we investigated a patient from a consanguineous fa...

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Source

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Identifiers

PMID: 23319571
DOI: 10.1182/blood-2012-10-460741
PMCID: PMC3630826

Genes

PRKCD

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-23319571-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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