Early Diagnosis and Hematopoietic Stem Cell Transplantation for IL10R Deficiency Leading to Very Early-Onset Inflammatory Bowel Disease Are Essential in Familial Cases
المؤلفون المشاركون
Aksu, Guzide
Ulusoy, Ezgi
Gozmen, Salih
Genel, Ferah
Akarcan, Sanem
Hirschmugl, Tatjana
Kansoy, Savas
Boztug, Kaan
Aksoylar, Serap
Kutukculer, Necil
Gulez, Nesrin
Karaca, Neslihan
المصدر
العدد
المجلد 2016، العدد 2016 (31 ديسمبر/كانون الأول 2016)، ص ص. 1-5، 5ص.
الناشر
Hindawi Publishing Corporation
تاريخ النشر
2016-09-06
دولة النشر
مصر
عدد الصفحات
5
التخصصات الرئيسية
الملخص EN
Alterations of immune homeostasis in the gut may result in development of inflammatory bowel disease.
A five-month-old girl was referred for recurrent respiratory and genitourinary tract infections, sepsis in neonatal period, chronic diarrhea, perianal abscess, rectovaginal fistula, and hyperemic skin lesions.
She was born to second-degree consanguineous, healthy parents.
Her elder siblings were lost at 4 months of age due to sepsis and 1 year of age due to inflammatory bowel disease, respectively.
Absolute neutrophil and lymphocyte counts, immunoglobulin levels, and lymphocyte subsets were normal ruling out severe congenital neutropenia and classic severe combined immunodeficiencies.
Quantitative determination of oxidative burst was normal, excluding chronic granulomatous disease.
Colonoscopy revealed granulation, ulceration, and pseudopolyps, compatible with colitis.
Very early-onset colitis and perianal disease leading to fistula formation suggested probability of inherited deficiencies of IL-10 or IL-10 receptor.
A mutation at position c.G477A in exon of the IL10RB gene, resulting in a stop codon at position p.W159X, was identified.
The patient underwent myeloablative hematopoietic stem cell transplantation from full matched father at 11 months of age.
Perianal lesions, chronic diarrhea, and recurrent infections resolved after transplantation.
IL-10/IL-10R deficiencies must be considered in patients with early-onset enterocolitis.
نمط استشهاد جمعية علماء النفس الأمريكية (APA)
Karaca, Neslihan& Aksu, Guzide& Ulusoy, Ezgi& Aksoylar, Serap& Gozmen, Salih& Genel, Ferah…[et al.]. 2016. Early Diagnosis and Hematopoietic Stem Cell Transplantation for IL10R Deficiency Leading to Very Early-Onset Inflammatory Bowel Disease Are Essential in Familial Cases. Case Reports in Immunology،Vol. 2016, no. 2016, pp.1-5.
https://search.emarefa.net/detail/BIM-1100924
نمط استشهاد الجمعية الأمريكية للغات الحديثة (MLA)
Karaca, Neslihan…[et al.]. Early Diagnosis and Hematopoietic Stem Cell Transplantation for IL10R Deficiency Leading to Very Early-Onset Inflammatory Bowel Disease Are Essential in Familial Cases. Case Reports in Immunology No. 2016 (2016), pp.1-5.
https://search.emarefa.net/detail/BIM-1100924
نمط استشهاد الجمعية الطبية الأمريكية (AMA)
Karaca, Neslihan& Aksu, Guzide& Ulusoy, Ezgi& Aksoylar, Serap& Gozmen, Salih& Genel, Ferah…[et al.]. Early Diagnosis and Hematopoietic Stem Cell Transplantation for IL10R Deficiency Leading to Very Early-Onset Inflammatory Bowel Disease Are Essential in Familial Cases. Case Reports in Immunology. 2016. Vol. 2016, no. 2016, pp.1-5.
https://search.emarefa.net/detail/BIM-1100924
نوع البيانات
مقالات
لغة النص
الإنجليزية
الملاحظات
Includes bibliographical references
رقم السجل
BIM-1100924
قاعدة معامل التأثير والاستشهادات المرجعية العربي "ارسيف Arcif"
أضخم قاعدة بيانات عربية للاستشهادات المرجعية للمجلات العلمية المحكمة الصادرة في العالم العربي
تقوم هذه الخدمة بالتحقق من التشابه أو الانتحال في الأبحاث والمقالات العلمية والأطروحات الجامعية والكتب والأبحاث باللغة العربية، وتحديد درجة التشابه أو أصالة الأعمال البحثية وحماية ملكيتها الفكرية. تعرف اكثر