Diagnosis of HLH: two siblings, two distinct genetic causes

التفاصيل البيبلوغرافية
العنوان: Diagnosis of HLH: two siblings, two distinct genetic causes
المؤلفون: Claire Escaron, Elizabeth Ralph, Shahnaz Bibi, Johannes Visser, Maurizio Aricò, Kanchan Rao, Paul Veys, Kimberly Gilmour
المصدر: Clin Exp Immunol
بيانات النشر: Oxford University Press (OUP), 2021.
سنة النشر: 2021
مصطلحات موضوعية: Siblings, Immunology, Humans, Immunology and Allergy, Research Articles, Lymphohistiocytosis, Hemophagocytic
الوصف: This report highlights case of two siblings who developed haemophagocytic lymphohystiocytosis due to distinct genetic abnormalities. Though their presentation was clinically similar, the cases demonstrate that a shared genetic diagnosis among siblings cannot be assumed.
تدمد: 1365-2249
0009-9104
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f61005b790b732808c13eca3da204b31Test
https://doi.org/10.1093/cei/uxab019Test
حقوق: OPEN
رقم الانضمام: edsair.doi.dedup.....f61005b790b732808c13eca3da204b31
قاعدة البيانات: OpenAIRE