DNA ligase IV deficiency: Immunoglobulin class deficiency depends on the genotype
| العنوان: | DNA ligase IV deficiency: Immunoglobulin class deficiency depends on the genotype |
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| المؤلفون: | Martine Doco-Fenzy, Mustapha Elalloussi, Laura C. Collopy, Jean-Pierre de Villartay, Aomar Agadr, Thierry Leblanc, Pierre-François Souchon, Tom Vulliami, Bérénice Hervé, Rodolphe Dard, Stephanie Gorde, Rachid Abilkassem, Alain Verloes, Abel Babik, Séverine Drunat |
| المساهمون: | Service de génétique [Reims], Centre Hospitalier Universitaire de Reims (CHU Reims), Service de génétique [Poissy], CHI Poissy-Saint-Germain, Service d'hématologie pédiatrique - CHU Reims, Laboratory of Human Genetics of Infectious Diseases (Necker Branch - INSERM U1163), Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Necker - Enfants Malades [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Barts & The London School of Medicine and Dentistry [London, UK] (Blizard Institute), Queen Mary University of London (QMUL), Hôpital Robert Debré Paris, Hôpital Robert Debré, American Memorial Hospital (Hôpital des enfants) [Reims], Rabat Military Hospital, Hémostase et Remodelage Vasculaire Post-Ischémie (HERVI - EA 3801), Université de Reims Champagne-Ardenne (URCA) |
| المصدر: | Pediatric Allergy and Immunology Pediatric Allergy and Immunology, Wiley, 2017, 28 (3), pp.298-303. ⟨10.1111/pai.12694⟩ |
| بيانات النشر: | Wiley, 2017. |
| سنة النشر: | 2017 |
| مصطلحات موضوعية: | 0301 basic medicine, [SDV.GEN]Life Sciences [q-bio]/Genetics, Severe combined immunodeficiency, Microcephaly, business.industry, Immunology, LIG4 syndrome, LIG4, medicine.disease, Pancytopenia, Short stature, 3. Good health, 03 medical and health sciences, 030104 developmental biology, 0302 clinical medicine, Seckel syndrome, Pediatrics, Perinatology and Child Health, medicine, Immunology and Allergy, medicine.symptom, business, ComputingMilieux_MISCELLANEOUS, 030217 neurology & neurosurgery, Immunodeficiency |
| الوصف: | DNA ligase IV (LIG4) deficiency (LIG4 syndrome, LS, OMIM 606593) is a very rare autosomal-recessive DNA-repair disorder first reported in 2001(1). In LS, genome instability results in a broad range of Onco-Hemato-Immunological disturbances, including progressive pancytopenia in childhood, and severe combined immunodeficiency (SCID) B-T-NK+ and malignancy; it is also associated with microcephalic developmental delay, short stature, and facial dysmorphism. Clinical presentation ranges in severity from rapidly fatal to mild hemato-immunological forms associated with microcephalic developmental delay. This article is protected by copyright. All rights reserved. |
| تدمد: | 0905-6157 1399-3038 |
| الوصول الحر: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::549fe4ab3977d09d382e5f31756c8684Test https://doi.org/10.1111/pai.12694Test |
| حقوق: | OPEN |
| رقم الانضمام: | edsair.doi.dedup.....549fe4ab3977d09d382e5f31756c8684 |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 09056157 13993038 |
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