臨床症例報告ジャーナル

Immunodeficiency, Centromeric Instability and Facial Dysmorphism Syndrome: A Case Report

Abstract

Alonazi NA, Mohamed S, Alonazi A, Elshazaly H, Jori B, Alanazi M and Hashem AA

Immunodeficiency, centromeric instability, and facial dysmorphism (ICF) syndrome is a rare autosomal recessive disorder, characterized by a variable reduction in serum immunoglobulins, sometimes combined with defective cellular immunity. Here, we report an 18-month-old boy, who presented with colonic perforation. The molecular diagnosis was confirmed by whole-exome sequencing that revealed a homozygous c.2506G>A, (p.Val836Met) mutation in DNMT3B gene. This report expands the clinical and immunological features of ICF syndrome.