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Article

Phenotypic Diversity of Chronic Granulomatous Disease within a Family Carrying the Same NCF1 Gene Mutation.

Iranian journal of allergy, asthma, and immunology - 22 Apr 2026

Yazdizadeh Sarvin, Saberi Mohammad, Karimi Abdollah, Sharafian Samin, Rafiei Tabatabaei Sedigheh, Seraj Sahar, Sadat Seyedmehdi Maryam, Fallah Shahrzad

Abstract excerpt

Chronic Granulomatous Disease (CGD) is a defect or abnormality in the immune system that produces severe and persistent signs and symptoms in affected individuals. Phenotypic diversity and genetic heterogeneity exist among patients with inborn errors of immunity (IEI). Symptoms may vary even when the mutations are identical; conversely, patients with different mutations may have similar clinical features. The...

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Identifiers

PMID: 42130148
DOI: 10.18502/ijaai.v25i3.21264

Genes

NCF1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

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