- Mutations in CHD7 in patients with CHARGE syndrome cause T–B + natural killer cell + severe combined immune deficiency and may cause Omenn-like syndrome
2008/05/26 by Andrew R. Gennery, Mary Slatter, Jason Rice +10 · 120 citations
Immunology and Microbiology · Medicine · #Antibody #Biology #Common variable immunodeficiency #Congenital Ear and Nasal Anomalies #Disease #Erythroderma #Gene #Genetics #Hepatosplenomegaly #Immune system #Immunodeficiency #Immunodeficiency and Autoimmune Disorders #Immunology #Medicine #Pathology #Primary immunodeficiency #RAG2 #Severe combined immunodeficiency #Tracheal and airway disorders