ICF team


ICF (Immune Deficiency Syndrome - centromeric region instability, facial anomalies syndrome, ICF) - a rare genetic disorder with autosomal recessive inheritance, characterized by primary immunodeficiency despite current lymphocytes B, characteristic rearrangements in chromosome 1, 16, and sometimes 9 (presence of ytterbic acid), mild facial dysmorphism, delayed growth, IgG, IgA, IgM and IgE serum levels are low. Recurrent infections occur during infancy. In most patients, the disease is caused by mutations in the DNMT3B gene. To date, about 50 cases have been reported. Bibliography

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