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.
ఈ కథనాన్ని భాగస్వామ్యం చేయండి
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