Evgeny N Suspitsin, Marina N Guseva, Mikhail M Kostik, Anna P Sokolenko, Nataliya V Skripchenko, Anastasia S Levina, Olga V Goleva, Margarita F Dubko, Anastasia V Tumakova, Maria A Makhova, Lidiya V Lyazina, Ilya V Bizin, Natalia E Sokolova, Tatiana V Gabrusskaya, Liliya V Ditkovskaya, Olga P Kozlova, Svetlana S Vahliarskaya, Irina V Kondratenko, Evgeny N Imyanitov
Primary immune deficiencies are usually attributed to genetic defects and, therefore, frequently referred to as inborn errors of immunity (IEI). We subjected the genomic DNA of 333 patients with clinical signs of IEI to next generation sequencing (NGS) analysis of 344 immunity-related genes and, in some instances, additional genetic techniques. Genetic causes of the disease were identified in 69/333 (21%) of subjects, including 11/18 (61%) of children with syndrome-associated IEIs, 45/202 (22%) of non-syndromic patients with Jeffrey Modell Foundation (JMF) warning signs, 9/56 (16%) of subjects with periodic fever, 3/30 (10%) of cases of autoimmune cytopenia, 1/21 (5%) of patients with unusually severe infections and 0/6 (0%) of individuals with isolated elevation of IgE level...
May 22, 2020: Clinical Genetics