Molecular Characteristics, Clinical and Immunologic Manifestations of 11 Children with Omenn Syndrome in East Slavs (Russia, Belarus, Ukraine)
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...
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| Veröffentlicht in: | Journal of clinical immunology 2016-01, Vol.36 (1), p.46-55 |
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| creator | Sharapova, Svetlana O. Guryanova, Irina E. Pashchenko, Olga E. Kondratenko, Irina V. Kostyuchenko, Larisa V. Rodina, Yulia A. Varlamova, Tatjana V. Bondarenko, Anastasiia V. Chernyshova, Liudmyla I. Gyseva, Marina N. Belevtsev, Mikhail V. Minakovskaya, Nina V. Aleinikova, Olga V. |
| description | 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. |
| doi_str_mv | 10.1007/s10875-015-0216-7 |
| format | Article |
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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.</description><identifier>ISSN: 0271-9142</identifier><identifier>EISSN: 1573-2592</identifier><identifier>DOI: 10.1007/s10875-015-0216-7</identifier><identifier>PMID: 26596586</identifier><identifier>CODEN: JCIMDO</identifier><language>eng</language><publisher>New York: Springer US</publisher><subject>Biomedical and Life Sciences ; Biomedicine ; European Continental Ancestry Group ; Female ; Hematopoietic Stem Cell Transplantation ; Homeodomain Proteins - genetics ; Humans ; Immunology ; Immunophenotyping ; Infant ; Infant, Newborn ; Infectious Diseases ; Internal Medicine ; Lymphocytes - immunology ; Male ; Medical Microbiology ; Mutation - genetics ; Original Article ; Polymorphism, Genetic ; Prognosis ; Republic of Belarus ; Russia ; Severe Combined Immunodeficiency - diagnosis ; Severe Combined Immunodeficiency - mortality ; Severe Combined Immunodeficiency - therapy ; Survival Analysis ; Ukraine</subject><ispartof>Journal of clinical immunology, 2016-01, Vol.36 (1), p.46-55</ispartof><rights>Springer Science+Business Media New York 2015</rights><rights>Springer Science+Business Media New York 2016</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c475t-8e4f62884a90152adcb5cc14410cf98f692d619fab4e7fda8edc58a4653acd743</citedby><cites>FETCH-LOGICAL-c475t-8e4f62884a90152adcb5cc14410cf98f692d619fab4e7fda8edc58a4653acd743</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://link.springer.com/content/pdf/10.1007/s10875-015-0216-7$$EPDF$$P50$$Gspringer$$H</linktopdf><linktohtml>$$Uhttps://link.springer.com/10.1007/s10875-015-0216-7$$EHTML$$P50$$Gspringer$$H</linktohtml><link.rule.ids>314,780,784,27924,27925,41488,42557,51319</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/26596586$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Sharapova, Svetlana O.</creatorcontrib><creatorcontrib>Guryanova, Irina E.</creatorcontrib><creatorcontrib>Pashchenko, Olga E.</creatorcontrib><creatorcontrib>Kondratenko, Irina V.</creatorcontrib><creatorcontrib>Kostyuchenko, Larisa V.</creatorcontrib><creatorcontrib>Rodina, Yulia A.</creatorcontrib><creatorcontrib>Varlamova, Tatjana V.</creatorcontrib><creatorcontrib>Bondarenko, Anastasiia V.</creatorcontrib><creatorcontrib>Chernyshova, Liudmyla I.</creatorcontrib><creatorcontrib>Gyseva, Marina N.</creatorcontrib><creatorcontrib>Belevtsev, Mikhail V.</creatorcontrib><creatorcontrib>Minakovskaya, Nina V.</creatorcontrib><creatorcontrib>Aleinikova, Olga V.</creatorcontrib><title>Molecular Characteristics, Clinical and Immunologic Manifestations of 11 Children with Omenn Syndrome in East Slavs (Russia, Belarus, Ukraine)</title><title>Journal of clinical immunology</title><addtitle>J Clin Immunol</addtitle><addtitle>J Clin Immunol</addtitle><description>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.</description><subject>Biomedical and Life Sciences</subject><subject>Biomedicine</subject><subject>European Continental Ancestry Group</subject><subject>Female</subject><subject>Hematopoietic Stem Cell Transplantation</subject><subject>Homeodomain Proteins - genetics</subject><subject>Humans</subject><subject>Immunology</subject><subject>Immunophenotyping</subject><subject>Infant</subject><subject>Infant, Newborn</subject><subject>Infectious Diseases</subject><subject>Internal Medicine</subject><subject>Lymphocytes - immunology</subject><subject>Male</subject><subject>Medical Microbiology</subject><subject>Mutation - genetics</subject><subject>Original Article</subject><subject>Polymorphism, Genetic</subject><subject>Prognosis</subject><subject>Republic of Belarus</subject><subject>Russia</subject><subject>Severe Combined Immunodeficiency - diagnosis</subject><subject>Severe Combined Immunodeficiency - mortality</subject><subject>Severe Combined Immunodeficiency - therapy</subject><subject>Survival Analysis</subject><subject>Ukraine</subject><issn>0271-9142</issn><issn>1573-2592</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2016</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><sourceid>ABUWG</sourceid><sourceid>AFKRA</sourceid><sourceid>AZQEC</sourceid><sourceid>BENPR</sourceid><sourceid>CCPQU</sourceid><sourceid>DWQXO</sourceid><sourceid>GNUQQ</sourceid><recordid>eNqNkc9qFTEYxYMo9lp9ADcScFOho0lu_i71UrXQUrB2Hb6bZNrUTFKTGaUv4TObcquIILgI3yK_cw6Hg9BzSl5TQtSbRolWYiC0P0bloB6gFRVqPTBh2EO0IkzRwVDO9tCT1q4JIWvJxGO0x6QwUmi5Qj9OSwpuSVDx5goquDnU2Obo2iHepJijg4Qhe3w8TUsuqVxGh08hxzG0GeZYcsNlxJR2eUy-hoy_x_kKn00hZ3x-m30tU8Ax4yNoMz5P8K3hg09LaxEO8bvQg5cedfGlQszh1VP0aITUwrP7u48u3h993nwcTs4-HG_engyOKzEPOvBRMq05mF6egXdb4RzlnBI3Gj1Kw7ykZoQtD2r0oIN3QgOXYg3OK77eRwc735tavi69ip1icyElyKEszVIltVCME_0_KNFGGU46-vIv9LosNfcinRKaGKaM7BTdUa6W1moY7U2NE9RbS4m929XudrW9mr3b1aqueXHvvGyn4H8rfg3ZAbYDWv_Kl6H-Ef1P159eg62c</recordid><startdate>20160101</startdate><enddate>20160101</enddate><creator>Sharapova, Svetlana O.</creator><creator>Guryanova, Irina E.</creator><creator>Pashchenko, Olga E.</creator><creator>Kondratenko, Irina V.</creator><creator>Kostyuchenko, Larisa V.</creator><creator>Rodina, Yulia A.</creator><creator>Varlamova, Tatjana V.</creator><creator>Bondarenko, Anastasiia V.</creator><creator>Chernyshova, Liudmyla I.</creator><creator>Gyseva, Marina N.</creator><creator>Belevtsev, Mikhail V.</creator><creator>Minakovskaya, Nina V.</creator><creator>Aleinikova, Olga V.</creator><general>Springer US</general><general>Springer Nature B.V</general><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>3V.</scope><scope>7T5</scope><scope>7X7</scope><scope>7XB</scope><scope>88E</scope><scope>8AO</scope><scope>8C1</scope><scope>8FE</scope><scope>8FH</scope><scope>8FI</scope><scope>8FJ</scope><scope>8FK</scope><scope>ABUWG</scope><scope>AFKRA</scope><scope>AZQEC</scope><scope>BBNVY</scope><scope>BENPR</scope><scope>BHPHI</scope><scope>CCPQU</scope><scope>DWQXO</scope><scope>FYUFA</scope><scope>GHDGH</scope><scope>GNUQQ</scope><scope>H94</scope><scope>HCIFZ</scope><scope>K9.</scope><scope>LK8</scope><scope>M0S</scope><scope>M1P</scope><scope>M7P</scope><scope>PQEST</scope><scope>PQQKQ</scope><scope>PQUKI</scope><scope>PRINS</scope><scope>7X8</scope></search><sort><creationdate>20160101</creationdate><title>Molecular Characteristics, Clinical and Immunologic Manifestations of 11 Children with Omenn Syndrome in East Slavs (Russia, Belarus, Ukraine)</title><author>Sharapova, Svetlana O. ; Guryanova, Irina E. ; Pashchenko, Olga E. ; Kondratenko, Irina V. ; Kostyuchenko, Larisa V. ; Rodina, Yulia A. ; Varlamova, Tatjana V. ; Bondarenko, Anastasiia V. ; Chernyshova, Liudmyla I. ; Gyseva, Marina N. ; Belevtsev, Mikhail V. ; Minakovskaya, Nina V. ; Aleinikova, Olga V.</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c475t-8e4f62884a90152adcb5cc14410cf98f692d619fab4e7fda8edc58a4653acd743</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2016</creationdate><topic>Biomedical and Life Sciences</topic><topic>Biomedicine</topic><topic>European Continental Ancestry Group</topic><topic>Female</topic><topic>Hematopoietic Stem Cell Transplantation</topic><topic>Homeodomain Proteins - genetics</topic><topic>Humans</topic><topic>Immunology</topic><topic>Immunophenotyping</topic><topic>Infant</topic><topic>Infant, Newborn</topic><topic>Infectious Diseases</topic><topic>Internal Medicine</topic><topic>Lymphocytes - immunology</topic><topic>Male</topic><topic>Medical Microbiology</topic><topic>Mutation - genetics</topic><topic>Original Article</topic><topic>Polymorphism, Genetic</topic><topic>Prognosis</topic><topic>Republic of Belarus</topic><topic>Russia</topic><topic>Severe Combined Immunodeficiency - diagnosis</topic><topic>Severe Combined Immunodeficiency - mortality</topic><topic>Severe Combined Immunodeficiency - therapy</topic><topic>Survival Analysis</topic><topic>Ukraine</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Sharapova, Svetlana O.</creatorcontrib><creatorcontrib>Guryanova, Irina E.</creatorcontrib><creatorcontrib>Pashchenko, Olga E.</creatorcontrib><creatorcontrib>Kondratenko, Irina V.</creatorcontrib><creatorcontrib>Kostyuchenko, Larisa V.</creatorcontrib><creatorcontrib>Rodina, Yulia A.</creatorcontrib><creatorcontrib>Varlamova, Tatjana V.</creatorcontrib><creatorcontrib>Bondarenko, Anastasiia V.</creatorcontrib><creatorcontrib>Chernyshova, Liudmyla I.</creatorcontrib><creatorcontrib>Gyseva, Marina N.</creatorcontrib><creatorcontrib>Belevtsev, Mikhail V.</creatorcontrib><creatorcontrib>Minakovskaya, Nina V.</creatorcontrib><creatorcontrib>Aleinikova, Olga V.</creatorcontrib><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>ProQuest Central (Corporate)</collection><collection>Immunology Abstracts</collection><collection>Health & Medical Collection</collection><collection>ProQuest Central (purchase pre-March 2016)</collection><collection>Medical Database (Alumni Edition)</collection><collection>ProQuest Pharma Collection</collection><collection>Public Health Database</collection><collection>ProQuest SciTech Collection</collection><collection>ProQuest Natural Science Collection</collection><collection>Hospital Premium Collection</collection><collection>Hospital Premium Collection (Alumni Edition)</collection><collection>ProQuest Central (Alumni) (purchase pre-March 2016)</collection><collection>ProQuest Central (Alumni Edition)</collection><collection>ProQuest Central UK/Ireland</collection><collection>ProQuest Central Essentials</collection><collection>Biological Science Collection</collection><collection>ProQuest Central</collection><collection>Natural Science Collection</collection><collection>ProQuest One Community College</collection><collection>ProQuest Central Korea</collection><collection>Health Research Premium Collection</collection><collection>Health Research Premium Collection (Alumni)</collection><collection>ProQuest Central Student</collection><collection>AIDS and Cancer Research Abstracts</collection><collection>SciTech Premium Collection</collection><collection>ProQuest Health & Medical Complete (Alumni)</collection><collection>ProQuest Biological Science Collection</collection><collection>Health & Medical Collection (Alumni Edition)</collection><collection>Medical Database</collection><collection>Biological Science Database</collection><collection>ProQuest One Academic Eastern Edition (DO NOT USE)</collection><collection>ProQuest One Academic</collection><collection>ProQuest One Academic UKI Edition</collection><collection>ProQuest Central China</collection><collection>MEDLINE - Academic</collection><jtitle>Journal of clinical immunology</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Sharapova, Svetlana O.</au><au>Guryanova, Irina E.</au><au>Pashchenko, Olga E.</au><au>Kondratenko, Irina V.</au><au>Kostyuchenko, Larisa V.</au><au>Rodina, Yulia A.</au><au>Varlamova, Tatjana V.</au><au>Bondarenko, Anastasiia V.</au><au>Chernyshova, Liudmyla I.</au><au>Gyseva, Marina N.</au><au>Belevtsev, Mikhail V.</au><au>Minakovskaya, Nina V.</au><au>Aleinikova, Olga V.</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Molecular Characteristics, Clinical and Immunologic Manifestations of 11 Children with Omenn Syndrome in East Slavs (Russia, Belarus, Ukraine)</atitle><jtitle>Journal of clinical immunology</jtitle><stitle>J Clin Immunol</stitle><addtitle>J Clin Immunol</addtitle><date>2016-01-01</date><risdate>2016</risdate><volume>36</volume><issue>1</issue><spage>46</spage><epage>55</epage><pages>46-55</pages><issn>0271-9142</issn><eissn>1573-2592</eissn><coden>JCIMDO</coden><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.</abstract><cop>New York</cop><pub>Springer US</pub><pmid>26596586</pmid><doi>10.1007/s10875-015-0216-7</doi><tpages>10</tpages></addata></record> |
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| subjects | Biomedical and Life Sciences Biomedicine European Continental Ancestry Group Female Hematopoietic Stem Cell Transplantation Homeodomain Proteins - genetics Humans Immunology Immunophenotyping Infant Infant, Newborn Infectious Diseases Internal Medicine Lymphocytes - immunology Male Medical Microbiology Mutation - genetics Original Article Polymorphism, Genetic Prognosis Republic of Belarus Russia Severe Combined Immunodeficiency - diagnosis Severe Combined Immunodeficiency - mortality Severe Combined Immunodeficiency - therapy Survival Analysis Ukraine |
| title | Molecular Characteristics, Clinical and Immunologic Manifestations of 11 Children with Omenn Syndrome in East Slavs (Russia, Belarus, Ukraine) |
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