NBAS Variants Are Associated with Quantitative and Qualitative NK and B Cell Deficiency.

doi:10.1007/s10875-021-01110-7

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Article

NBAS Variants Are Associated with Quantitative and Qualitative NK and B Cell Deficiency.

Journal of clinical immunology - 1 Nov 2021

Lenz Dominic, Pahl Jens, Hauck Fabian, Alameer Seham, Balasubramanian Meena, Baric Ivo, Boy Nikolas, Church Joseph A, Crushell Ellen, Dick Anke, Distelmaier Felix, Gujar Jidnyasa, Indolfi Giuseppe, Lurz Eberhard, Peters Bianca, Schwerd Tobias, Serranti Daniele, Kölker Stefan, Klein Christoph, Hoffmann Georg F, Prokisch Holger, Greil Johann, Cerwenka Adelheid, Giese Thomas, Staufner Christian

Abstract excerpt

PURPOSE: Biallelic pathogenic NBAS variants manifest as a multisystem disorder with heterogeneous clinical phenotypes such as recurrent acute liver failure, growth retardation, and susceptibility to infections. This study explores how NBAS-associated disease affects cells of the innate and adaptive immune system. METHODS: Clinical and laboratory parameters were combined with functional multi-parametric...

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Identifiers

PMID: 34386911
DOI: 10.1007/s10875-021-01110-7
PMCID: PMC8604887

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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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