Article
DNMT3B deficiency presenting as severe combined immune deficiency: A case report.
Clinical immunology (Orlando, Fla.) - 1 Jun 2020
Mehawej Cybel, Khalife Hassan, Hanna-Wakim Rima, Dbaibo Ghassan, Farra Chantal
Abstract excerpt
Immunodeficiency, Centromeric instability and Facial anomalies (ICF) syndrome is a group of rare autosomal recessive disorders. The immune disease in the ICF syndrome consists mainly of humoral immunodeficiency. T-cell dysfunction has previously been suspected to be part of the syndrome's spectrum. However, patients with ICF display, at a young age, a normal number of T cells that tend to decline throughout...
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