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Hypogammaglobulinemia in a Child with Clericuzio-Type Poikiloderma with Neutropenia.

Pediatric allergy, immunology, and pulmonology - 1 Dec 2024

Tekcan Demet, Kulhas Celik Ilknur, Comert Meltem, Artac Hasibe

Abstract excerpt

Introduction: Poikiloderma with neutropenia (PN) is a rare autosomal recessive hereditary disease caused by biallelic mutations of the USB1 gene. It is characterized by poikiloderma, chronic noncyclic neutropenia, and recurrent sinopulmonary infections with bronchiectasis. Here we report a case with homozygous c.531delA mutation in USB1 gene. Case: An 15-month-old boy was admitted to our clinic with skin...

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Agammaglobulinemia
Infant
Mutation
Neutropenia
Phosphoric Diester Hydrolases

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Skin Abnormalities

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PMID: 39607724
DOI: 10.1089/ped.2024.0071

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

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