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We subjected the genomic DNA of 333 patients with clinical signs of IEI to next generation sequencing (NGS) analysis of 344 immunity\u2010related 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\u2010associated IEIs, 45\/202 (22%) of nonsyndromic 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. There were unusual clinical observations: twins with severe immunodeficiency carried a de novo CHARGE syndrome\u2010associated <jats:italic>SEMA3E<\/jats:italic> c.2108C&gt;T (p.S703L) allele; however, they lacked clinical features of CHARGE syndrome. Additionally, there were genetically proven instances of Netherton syndrome, \u0425\u2010linked agammaglobulinemia, severe combined immune deficiency (SCID), IPEX and APECED syndromes, among others. Some patients carried recurrent pathogenic alleles, such as <jats:italic>AIRE<\/jats:italic> c.769C&gt;T (p.R257*), <jats:italic>NBN<\/jats:italic> c.657del5, <jats:italic>DCLRE1C<\/jats:italic> c.103C&gt;G (p.H35D), <jats:italic>NLRP12<\/jats:italic> c.1054C&gt;T (p.R352C) and c.910C&gt;T (p.H304Y). NGS is a powerful tool for high\u2010throughput examination of patients with malfunction of immunity.<\/jats:p>","DOI":"10.1111\/cge.13789","type":"journal-article","created":{"date-parts":[[2020,5,22]],"date-time":"2020-05-22T10:04:37Z","timestamp":1590141877000},"page":"231-239","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":26,"title":["Next generation sequencing analysis of consecutive Russian patients with clinical suspicion of inborn errors of immunity"],"prefix":"10.1111","volume":"98","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-9764-2090","authenticated-orcid":false,"given":"Evgeny N.","family":"Suspitsin","sequence":"first","affiliation":[{"name":"Department of Medical Genetics St. Petersburg State Pediatric Medical University  St. Petersburg Russia"},{"name":"Department of Tumor Growth Biology N.N. Petrov Institute of Oncology  St. Petersburg Russia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marina N.","family":"Guseva","sequence":"additional","affiliation":[{"name":"Outpatient Department St. Petersburg State Pediatric Medical University  St. Petersburg Russia"},{"name":"Department of Immunology First Pavlov State Medical University  St. Petersburg Russia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mikhail M.","family":"Kostik","sequence":"additional","affiliation":[{"name":"Department of Hospital Pediatrics St. Petersburg State Pediatric Medical University  St. Petersburg Russia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anna P.","family":"Sokolenko","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics St. Petersburg State Pediatric Medical University  St. Petersburg Russia"},{"name":"Department of Tumor Growth Biology N.N. Petrov Institute of Oncology  St. Petersburg Russia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nataliya V.","family":"Skripchenko","sequence":"additional","affiliation":[{"name":"Department of Infectious Diseases in Children, Faculty of Postgraduate Education St. Petersburg State Pediatric Medical University  St. Petersburg Russia"},{"name":"Department of Neuroinfections and Nervous System Pathology Pediatric Research and Clinical Center for Infectious Diseases  St. Petersburg Russia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anastasia S.","family":"Levina","sequence":"additional","affiliation":[{"name":"Department of Infectious Diseases in Children, Faculty of Postgraduate Education St. Petersburg State Pediatric Medical University  St. Petersburg Russia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Olga V.","family":"Goleva","sequence":"additional","affiliation":[{"name":"Department of Virusology and Molecular Biology Pediatric Research and Clinical Center for Infectious Diseases  St. Petersburg Russia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Margarita F.","family":"Dubko","sequence":"additional","affiliation":[{"name":"Department of Hospital Pediatrics St. Petersburg State Pediatric Medical University  St. Petersburg Russia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anastasia V.","family":"Tumakova","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics St. Petersburg State Pediatric Medical University  St. Petersburg Russia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria A.","family":"Makhova","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics St. Petersburg State Pediatric Medical University  St. Petersburg Russia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lidiya V.","family":"Lyazina","sequence":"additional","affiliation":[{"name":"City Center for Medical Genetics  St. Petersburg Russia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ilya V.","family":"Bizin","sequence":"additional","affiliation":[{"name":"Department of Tumor Growth Biology N.N. Petrov Institute of Oncology  St. Petersburg Russia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Natalia E.","family":"Sokolova","sequence":"additional","affiliation":[{"name":"Department of Hematology First City Children Hospital  St. Petersburg Russia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tatiana V.","family":"Gabrusskaya","sequence":"additional","affiliation":[{"name":"Department of Gastroenterology, Faculty of Postgraduate Education St. Petersburg State Pediatric Medical University  St. Petersburg Russia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Liliya V.","family":"Ditkovskaya","sequence":"additional","affiliation":[{"name":"I.M. 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