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Article

Inherited Human BCL10 Deficiencies.

Journal of clinical immunology - 22 Dec 2023

Alsaidalani Ashwag A, García-Solís Blanca, Bukhari Esraa, Van Den Rym Ana, López-Collazo Eduardo, Sánchez-Ramón Silvia, Corvillo Fernando, López-Lera Alberto, de Andrés Ana, Martínez-Barricarte Rubén, Perez de Diego Rebeca

Abstract excerpt

Human BCL10 deficiency causes combined immunodeficiency with bone marrow transplantation as its only curative option. To date, there are four homozygous mutations described in the literature that were identified in four unrelated patients. Here, we describe a fifth patient with a novel mutation and summarize what we have learned about BCL10 deficiency. Due to the severity of the disease, accurate knowledge of its...

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Identifiers

PMID: 38129623
DOI: 10.1007/s10875-023-01619-z
PMCID: PMC10966939

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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