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Article

Molecular studies and NK cell function of a new case of TAP2 homozygous human deficiency.

Clinical and experimental immunology - 1 Aug 2001

Matamoros N, Milà J, Llano M, Balas A, Vicario J L, Pons J, Crespí C, Martinez N, Iglesias-Alzueta J, López-Botet M

Abstract excerpt

In this paper we describe the clinical and molecular features of a new case (GOR) of homozygous human TAP2 deficiency, analysing the phenotype and function of NK cells. The patient presented from infancy with recurrent sinopulmonary infections; a selective IgG2 deficiency, negative antibody respo...

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Source

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Identifiers

PMID: 11529920
DOI: 10.1046/j.1365-2249.2001.01595.x
PMCID: PMC1906123

Genes

TAP2
CGA

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-11529920-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

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

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