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Órgano Oficial del Colegio Mexicano de Alergia, Asma e Inmunología Pediátrica y de la Asociación Latinoamericana de Pediatría

2025, Number 1

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Alerg Asma Inmunol Pediatr 2025; 34 (1)

Severe congenital neutropenia and cataract: association or part of the same spectrum?

García-Domínguez M, Blanco-Gómez OC, Heras-Salazar R, Arce-Cabrera D

Language: Spanish
References: 17
Page: 35-39
PDF size: 519.26 Kb.


ABSTRACT

Introduction: severe congenital neutropenia is often associated with well-defined clinical syndromes involving various organs and systems. Clinical case: we present a three-year-old male infant with severe congenital neutropenia, pneumonia, diarrhea, and an inguinal abscess. Physical examination also revealed bilateral congenital cataracts. He was treated with granulocyte-monocyte colony-stimulating factor (GM-CSF) and intravenous immunoglobulin every 21 days. Genetic testing revealed a deficiency in the CLPB gene, known as 3-methylglutaconic aciduria. Conclusion: genetic tools should now be used in inborn errors of immunity (IEI) to establish a diagnosis and correlate genotype-phenotype, and to offer targeted therapy.


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