Newborn screening for severe combined immunodeficiency does not identify bare lymphocyte syndrome
In May 2010, SCID was recommended to be added to the panel of genetic disorders in the national uniform newborn screening (NBS) program.1 SCID screening involves the measurement of T-cell receptor excision circles (TRECs), by-products of T-cell receptor rearrangement that reflect the robustness of T...
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| Veröffentlicht in: | Journal of allergy and clinical immunology 2013-06, Vol.131 (6), p.1693-1695 |
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| container_title | Journal of allergy and clinical immunology |
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| creator | Kuo, Caroline Y., MD Chase, John, MD Garcia Lloret, Maria, MD Stiehm, E. Richard, MD Moore, Theodore, MD Aguilera, Maria J. Matas, MSc Lopez Siles, Juan, PhD Church, Joseph A., MD |
| description | In May 2010, SCID was recommended to be added to the panel of genetic disorders in the national uniform newborn screening (NBS) program.1 SCID screening involves the measurement of T-cell receptor excision circles (TRECs), by-products of T-cell receptor rearrangement that reflect the robustness of T-cell production in the thymus; low blood levels of TRECs suggest profound T lymphopenia and are used to identify newborns for further evaluation. Hematopoietic stem cell transplant remains the only curative treatment, but the increased incidence and severity of graft-versus-host disease in association with pretransplant viral infections emphasize the importance of early diagnosis and intervention.6 In addition, the identification of 2 cases in California within a 6-month period and in patients of an ethnic background not usually associated with this disease suggest that MHC class II deficiency may not be as rare as previously considered. |
| doi_str_mv | 10.1016/j.jaci.2013.01.019 |
| format | Article |
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Hematopoietic stem cell transplant remains the only curative treatment, but the increased incidence and severity of graft-versus-host disease in association with pretransplant viral infections emphasize the importance of early diagnosis and intervention.6 In addition, the identification of 2 cases in California within a 6-month period and in patients of an ethnic background not usually associated with this disease suggest that MHC class II deficiency may not be as rare as previously considered.</description><identifier>ISSN: 0091-6749</identifier><identifier>EISSN: 1097-6825</identifier><identifier>DOI: 10.1016/j.jaci.2013.01.019</identifier><identifier>PMID: 23453137</identifier><language>eng</language><publisher>United States: Mosby, Inc</publisher><subject>Allergy and Immunology ; Diagnosis, Differential ; Humans ; Immune system ; Infant ; Infant, Newborn ; Lymphocytes ; Mutation ; Neonatal Screening ; Severe Combined Immunodeficiency - diagnosis ; Severe Combined Immunodeficiency - immunology ; Stem cells</subject><ispartof>Journal of allergy and clinical immunology, 2013-06, Vol.131 (6), p.1693-1695</ispartof><rights>American Academy of Allergy, Asthma & Immunology</rights><rights>2013 American Academy of Allergy, Asthma & Immunology</rights><rights>Copyright Elsevier Limited Jun 2013</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c406t-fe51cf698ddc4e631aef75fc10b60eab7e4f3575b85480de343edad06da315653</citedby><cites>FETCH-LOGICAL-c406t-fe51cf698ddc4e631aef75fc10b60eab7e4f3575b85480de343edad06da315653</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktohtml>$$Uhttps://www.sciencedirect.com/science/article/pii/S0091674913001589$$EHTML$$P50$$Gelsevier$$H</linktohtml><link.rule.ids>314,776,780,3537,27901,27902,65306</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/23453137$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Kuo, Caroline Y., MD</creatorcontrib><creatorcontrib>Chase, John, MD</creatorcontrib><creatorcontrib>Garcia Lloret, Maria, MD</creatorcontrib><creatorcontrib>Stiehm, E. Richard, MD</creatorcontrib><creatorcontrib>Moore, Theodore, MD</creatorcontrib><creatorcontrib>Aguilera, Maria J. Matas, MSc</creatorcontrib><creatorcontrib>Lopez Siles, Juan, PhD</creatorcontrib><creatorcontrib>Church, Joseph A., MD</creatorcontrib><title>Newborn screening for severe combined immunodeficiency does not identify bare lymphocyte syndrome</title><title>Journal of allergy and clinical immunology</title><addtitle>J Allergy Clin Immunol</addtitle><description>In May 2010, SCID was recommended to be added to the panel of genetic disorders in the national uniform newborn screening (NBS) program.1 SCID screening involves the measurement of T-cell receptor excision circles (TRECs), by-products of T-cell receptor rearrangement that reflect the robustness of T-cell production in the thymus; low blood levels of TRECs suggest profound T lymphopenia and are used to identify newborns for further evaluation. Hematopoietic stem cell transplant remains the only curative treatment, but the increased incidence and severity of graft-versus-host disease in association with pretransplant viral infections emphasize the importance of early diagnosis and intervention.6 In addition, the identification of 2 cases in California within a 6-month period and in patients of an ethnic background not usually associated with this disease suggest that MHC class II deficiency may not be as rare as previously considered.</description><subject>Allergy and Immunology</subject><subject>Diagnosis, Differential</subject><subject>Humans</subject><subject>Immune system</subject><subject>Infant</subject><subject>Infant, Newborn</subject><subject>Lymphocytes</subject><subject>Mutation</subject><subject>Neonatal Screening</subject><subject>Severe Combined Immunodeficiency - diagnosis</subject><subject>Severe Combined Immunodeficiency - immunology</subject><subject>Stem cells</subject><issn>0091-6749</issn><issn>1097-6825</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2013</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNp9kVuLFDEQhYMo7rj6B3yQgM89pjqX7gYRZPEGiz6ozyGdVDTtdDImPSv97007q4IPQkFRcM4p6itCHgPbAwP1bNpPxoZ9y4DvGdQa7pAdsKFrVN_Ku2TH2ACN6sRwQR6UMrE68364Ty5aLiQH3u2IeY8_xpQjLTYjxhC_UJ8yLXiDGalN8xgiOhrm-RSTQx9swGhX6hIWGtNCg8O4BL_S0VTDYZ2PX5NdF6RljS6nGR-Se94cCj667Zfk8-tXn67eNtcf3ry7enndWMHU0niUYL0aeuesQMXBoO-kt8BGxdCMHQrPZSfHXoqeOeSCozOOKWc4SCX5JXl6zj3m9P2EZdFTOuVYV2pQQnQ98Baqqj2rbE6lZPT6mMNs8qqB6Y2qnvRGVW9UNYNaQzU9uY0-jTO6P5bfGKvg-VmA9cCbgFmXX5zQhYx20S6F_-e_-MduDyEGaw7fcMXy9w5dWs30x-2v21uBMwayH_hPJNCfUw</recordid><startdate>20130601</startdate><enddate>20130601</enddate><creator>Kuo, Caroline Y., MD</creator><creator>Chase, John, MD</creator><creator>Garcia Lloret, Maria, MD</creator><creator>Stiehm, E. 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Hematopoietic stem cell transplant remains the only curative treatment, but the increased incidence and severity of graft-versus-host disease in association with pretransplant viral infections emphasize the importance of early diagnosis and intervention.6 In addition, the identification of 2 cases in California within a 6-month period and in patients of an ethnic background not usually associated with this disease suggest that MHC class II deficiency may not be as rare as previously considered.</abstract><cop>United States</cop><pub>Mosby, Inc</pub><pmid>23453137</pmid><doi>10.1016/j.jaci.2013.01.019</doi><tpages>3</tpages></addata></record> |
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| source | MEDLINE; Elsevier ScienceDirect Journals; Elektronische Zeitschriftenbibliothek - Frei zugängliche E-Journals |
| subjects | Allergy and Immunology Diagnosis, Differential Humans Immune system Infant Infant, Newborn Lymphocytes Mutation Neonatal Screening Severe Combined Immunodeficiency - diagnosis Severe Combined Immunodeficiency - immunology Stem cells |
| title | Newborn screening for severe combined immunodeficiency does not identify bare lymphocyte syndrome |
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