title: Molecular Characteristics, Clinical and Immunologic Manifestations of 11 Children with Omenn Syndrome in East Slavs (Russia, Belarus, Ukraine).
abstract: BACKGROUND
  Omenn syndrome [Mendelian Inheritance (OMIM 603554)] is a genetic disease of the immune system, characterized by the presence of fatal generalized severe erythroderma, lymphoadenopathy, eosinophilia and profound immunodeficiency.
  
  
  OBJECTIVE
  We studied clinical and immunologic presentation of the disease manifestation among East Slavs population with genetically confirmed Omenn syndrome.
  
  
  RESULTS
  We collected clinical and immunologic data of 11 patients (1 from Belarus, 5--Ukraine, 5--Russia): 6 females, 5 males. The age of Omenn syndrome manifestation varied from the 1st day of life to 1 year and 1 month, the age of diagnosis--20 days to 1 year and 10 months. Nine out of 11 patients had classic immunologic phenotype T(+/-)B-NK+, 1 pt had TlowB + NK+ with CD3 + TCRgd + expansion and 1 had TlowB+/-NK+ phenotype. Eight out of 11 pts had mutation in RAG1 gene, 4 out of 8 had c.368-369delAA (p.K86fsX118) in homozygous state or heterozygous compound. In our cohort of patients, we also described two new mutations in RAG genes (p.E722Q in RAG1 and p.M459R in RAG2). At present, 7/11 were transplanted and 5 out of the transplanted are alive.
  
  
  CONCLUSIONS
  This study demonstrates that the most popular genetic abnormality in East Slavs children with Omenn syndrome is c.368-369delAA (p.K86fs118) in RAG1 gene, which may be connected with more favorable prognosis because 4/4 patients survived after hematopoietic stem cells transplantation.
authors.affiliation: Research Department, Belarusian Research Center for Pediatric Oncology, Hematology and Immunology, Minsk Region, v. Borovliani, Frunzenskaja str., 223053, Minsk, Belarus. sharapovasv@gmail.com.
authors.forename: Svetlana O
authors.initials: SO
authors.lastname: Sharapova
authors.affiliation: Research Department, Belarusian Research Center for Pediatric Oncology, Hematology and Immunology, Minsk Region, v. Borovliani, Frunzenskaja str., 223053, Minsk, Belarus.
authors.forename: Irina E
authors.initials: IE
authors.lastname: Guryanova
authors.affiliation: Department of Clinical Immunology, Russian Clinical Children's Hospital, Moscow, Russia.
authors.forename: Olga E
authors.initials: OE
authors.lastname: Pashchenko
authors.affiliation: Department of Clinical Immunology, Russian Clinical Children's Hospital, Moscow, Russia.
authors.forename: Irina V
authors.initials: IV
authors.lastname: Kondratenko
authors.affiliation: West-Ukrainian Children's Medical Center, Lvov, Ukraine.
authors.forename: Larisa V
authors.initials: LV
authors.lastname: Kostyuchenko
authors.affiliation: Department of Immunology, Federal Scientific and Clinical Centre of Pediatric Hematology, Oncology and Immunology named after Dmitry Rogachev, Moscow, Russia.
authors.forename: Yulia A
authors.initials: YA
authors.lastname: Rodina
authors.affiliation: Department of Immunology, Federal Scientific and Clinical Centre of Pediatric Hematology, Oncology and Immunology named after Dmitry Rogachev, Moscow, Russia.
authors.forename: Tatjana V
authors.initials: TV
authors.lastname: Varlamova
authors.affiliation: Department of Pediatric Infectious Diseases and Immunology, Medical Academy of Postgraduate Education, Kiev, Ukraine.
authors.forename: Anastasiia V
authors.initials: AV
authors.lastname: Bondarenko
authors.affiliation: Department of Immunology, Federal Scientific and Clinical Centre of Pediatric Hematology, Oncology and Immunology named after Dmitry Rogachev, Moscow, Russia.
authors.forename: Liudmyla I
authors.initials: LI
authors.lastname: Chernyshova
authors.affiliation: Consulting Center of Pediatric Medical Academy, St. Petersburg, Russia.
authors.forename: Marina N
authors.initials: MN
authors.lastname: Gyseva
authors.affiliation: Research Department, Belarusian Research Center for Pediatric Oncology, Hematology and Immunology, Minsk Region, v. Borovliani, Frunzenskaja str., 223053, Minsk, Belarus.
authors.forename: Mikhail V
authors.initials: MV
authors.lastname: Belevtsev
authors.affiliation: Research Department, Belarusian Research Center for Pediatric Oncology, Hematology and Immunology, Minsk Region, v. Borovliani, Frunzenskaja str., 223053, Minsk, Belarus.
authors.forename: Nina V
authors.initials: NV
authors.lastname: Minakovskaya
authors.affiliation: Research Department, Belarusian Research Center for Pediatric Oncology, Hematology and Immunology, Minsk Region, v. Borovliani, Frunzenskaja str., 223053, Minsk, Belarus.
authors.forename: Olga V
authors.initials: OV
authors.lastname: Aleinikova
mesh_terms: D005260:Female; D018380:Hematopoietic Stem Cell Transplantation; D018398:Homeodomain Proteins / Q000235:genetics*; D006801:Humans; D016130:Immunophenotyping; D007223:Infant; D007231:Infant, Newborn; D008214:Lymphocytes / Q000276:immunology*; D008297:Male; D009154:Mutation / Q000235:genetics; D011110:Polymorphism, Genetic; D011379:Prognosis; D002094:Republic of Belarus; D012426:Russia; D016511:Severe Combined Immunodeficiency / Q000175:diagnosis* / Q000401:mortality / Q000628:therapy; D016019:Survival Analysis; D014455:Ukraine; D044465:White People
chemical_list: D018398:Homeodomain Proteins; C064658:RAG-1 protein
keywords: East Slavs children; Omenn syndrome; RAG1/2 genes; mutations