RECURRENT PNEUMONIA IN A PEDIATRIC PATIENT WITH CONGENITAL IMMUNODEFICIENCY DUE TO NUCLEOTIDE SUBSTITUTION MUTATION IN THE IKZF1 GENE
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Tóm tắt
Background: Congenital immunodeficiency is an underlying cause of recurrent pneumonia in children. Mutations in the IKZF1 gene have been associated with immunodeficiency phenotypes that can lead to recurrent infections.
Methods: We report a case of a 7-month-old female infant with recurrent severe pneumonia and genetic testing revealing a pathogenic variant in the IKZF1 gene.
Results: The patient had recurrent pneumonia requiring prolonged hospitalization. Genetic analysis revealed a heterozygous, dominant missense mutation in the IKZF1 gene (chr7:50382594; c.476A>G; p.Asn159Ser), accompanied by deletions on chromosomes 17 (q12) and 18 (p11.32-p11.21). Treatment with intravenous immunoglobulin (IVIg) led to significant clinical improvement.
Conclusion: This case highlights the association between IKZF1 mutations and congenital immunodeficiency with recurrent pneumonia, underscoring the importance of early genetic diagnosis and targeted therapy.
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Từ khóa
congenital immunodeficiency, recurrent pneumonia, IKZF1 gene, pediatric case report, IVIg therapy
Tài liệu tham khảo
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