تقرير
BCL10 Deficiency Presenting as Severe Combined Immunodeficiency Escaping Newborn Screening.
| العنوان: | BCL10 Deficiency Presenting as Severe Combined Immunodeficiency Escaping Newborn Screening. |
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| المؤلفون: | Salou S; Center for Chronic Immunodeficiency (CCI), Medical Center University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany. sarah.salou@uniklinik-freiburg.de.; Center for Pediatrics and Adolescent Medicine, Medical Center, Faculty of Medicine, University of Freiburg, Freiburg, Germany. sarah.salou@uniklinik-freiburg.de., Voelkl S; Department of Internal Medicine 5, Hematology and Oncology, University Hospital Erlangen, Erlangen, Germany., Keller B; Center for Chronic Immunodeficiency (CCI), Medical Center University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany.; Department of Rheumatology and Clinical Immunology, Medical Center - University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany., Ehl S; Center for Chronic Immunodeficiency (CCI), Medical Center University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany., Naumann-Bartsch N; Clinic for Children and Adolescents, Department of Hematology and Oncology, University Hospital Erlangen, Erlangen, Germany. nora.naumann@uk-erlangen.de. |
| المصدر: | Journal of clinical immunology [J Clin Immunol] 2023 Dec 30; Vol. 44 (1), pp. 37. Date of Electronic Publication: 2023 Dec 30. |
| نوع المنشور: | Case Reports; Letter; Research Support, Non-U.S. Gov't |
| اللغة: | English |
| بيانات الدورية: | Publisher: Springer Country of Publication: Netherlands NLM ID: 8102137 Publication Model: Electronic Cited Medium: Internet ISSN: 1573-2592 (Electronic) Linking ISSN: 02719142 NLM ISO Abbreviation: J Clin Immunol Subsets: MEDLINE |
| أسماء مطبوعة: | Publication: Amsterdam : Springer Original Publication: New York : Plenum, c1981- |
| مواضيع طبية MeSH: | Severe Combined Immunodeficiency*/diagnosis , Severe Combined Immunodeficiency*/genetics, Humans ; Infant, Newborn ; B-Cell CLL-Lymphoma 10 Protein ; Neonatal Screening |
| References: | J Clin Invest. 2014 Dec;124(12):5239-48. (PMID: 25365219) J Clin Immunol. 2020 Feb;40(2):388-398. (PMID: 32008135) Clin Immunol. 2022 Aug;241:109067. (PMID: 35750252) J Allergy Clin Immunol. 2013 May;131(5):1376-83.e3. (PMID: 23561803) Front Immunol. 2021 Nov 12;12:786572. (PMID: 34868072) |
| المشرفين على المادة: | 0 (B-Cell CLL-Lymphoma 10 Protein) 0 (BCL10 protein, human) |
| تواريخ الأحداث: | Date Created: 20231230 Date Completed: 20240104 Latest Revision: 20240507 |
| رمز التحديث: | 20240507 |
| مُعرف محوري في PubMed: | PMC10757694 |
| DOI: | 10.1007/s10875-023-01646-w |
| PMID: | 38159157 |
| قاعدة البيانات: | MEDLINE |
Find this article in full text from Springer Verlag. 
Full Text Finder | تدمد: | 1573-2592 |
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| DOI: | 10.1007/s10875-023-01646-w |