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01-01-2016 | Original Article

Molecular Characteristics, Clinical and Immunologic Manifestations of 11 Children with Omenn Syndrome in East Slavs (Russia, Belarus, Ukraine)

Authors: Svetlana O. Sharapova, Irina E. Guryanova, Olga E. Pashchenko, Irina V. Kondratenko, Larisa V. Kostyuchenko, Yulia A. Rodina, Tatjana V. Varlamova, Anastasiia V. Bondarenko, Liudmyla I. Chernyshova, Marina N. Gyseva, Mikhail V. Belevtsev, Nina V. Minakovskaya, Olga V. Aleinikova

Published in: Journal of Clinical Immunology | Issue 1/2016

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.

Conclusion

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.

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Title: Molecular Characteristics, Clinical and Immunologic Manifestations of 11 Children with Omenn Syndrome in East Slavs (Russia, Belarus, Ukraine)
Authors: Svetlana O. Sharapova
Irina E. Guryanova
Olga E. Pashchenko
Irina V. Kondratenko
Larisa V. Kostyuchenko
Yulia A. Rodina
Tatjana V. Varlamova
Anastasiia V. Bondarenko
Liudmyla I. Chernyshova
Marina N. Gyseva
Mikhail V. Belevtsev
Nina V. Minakovskaya
Olga V. Aleinikova
Publication date: 01-01-2016
Publisher: Springer US
Published in: Journal of Clinical Immunology / Issue 1/2016
Print ISSN: 0271-9142
Electronic ISSN: 1573-2592
DOI: https://doi.org/10.1007/s10875-015-0216-7

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Molecular Characteristics, Clinical and Immunologic Manifestations of 11 Children with Omenn Syndrome in East Slavs (Russia, Belarus, Ukraine)

Abstract

Background

Objective

Results

Conclusion

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Abstract

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Conclusion

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