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Article

A new case of autosomal recessive agammaglobulinaemia with impaired pre-B cell differentiation due to a large deletion of the IGH locus.

European journal of pediatrics - 1 Sept 2002

Milili Michèle, Antunes Henedina, Blanco-Betancourt Carla, Nogueiras Ana, Santos Eugénia, Vasconcelos Júlia, Castro e Melo João, Schiff Claudine

Abstract excerpt

UNLABELLED: Males with X-linked agammaglobulinaemia (XLA) due to mutations in the Bruton tyrosine kinase gene constitute the major group of congenital hypogammaglobulinaemia with absence of peripheral B cells. In these cases, blockages between the pro-B and pre-B cell stage in the bone marrow are found. The remaining male and female cases clinically similar to XLA represent a genotypically heterogeneous group of...

Read the complete abstract on PubMed

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 12200606
DOI: 10.1007/s00431-002-0994-9

Genes

BCR
IGH
BLNK
IGLL1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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A new case of autosomal recessive agammaglobulinaemia with impaired pre-B cell differentiation due to a large deletion of the IGH locus.PMID 12200606Read ↗

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