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Article

Deciphering the clinical and genetic spectrum of early-onset inborn errors of immunity in a Brazilian pediatric cohort.

Frontiers in immunology - 1 Jan 2026

de Mattos Luiza, Alves Mayara Mayer, Wegbecher Nickolas Piller, Iwamura Ana Paula Diniz, Barreto Irma Cecilia Douglas Paes, Assahide Marina Hideko Kinoshita, Guimarães Flavia A T M, Faddul Patricia, Kuntze Gisele, Chong-Neto Herberto Jose, Wagner Rafaela, Costa Júnior Victor Horacio de Souza, Bispo Saloe, Schidlowski Laire, Prando Carolina

Abstract excerpt

Inborn errors of immunity are a heterogeneous group of rare genetic disorders associated with susceptibility to infections, autoimmunity, allergy, and malignancy. Owing to marked clinical variability, phenotypic overlap, and limited access to specialized diagnostic resources, their diagnosis remains challenging. To investigate the diagnostic contribution of whole-exome sequencing in this setting, we studied 100...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 42421943
DOI: 10.3389/fimmu.2026.1839133
PMCID: PMC13341498

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