Gain-of-Function Mutations in STAT1: A Recently Defined Cause for Chronic Mucocutaneous Candidiasis Disease Mimicking Combined Immunodeficiencies
المؤلفون المشاركون
Azarsız, Elif
Aksu, Guzide
Ulusoy, Ezgi
Akarcan, Sanem
Migaud, Melanie
Isik, Esra
Evin Gurkan, Ferda
Casanova, Jean-Laurent
Puel, Anne
Kutukculer, Necil
Karaca, Neslihan
المصدر
العدد
المجلد 2017، العدد 2017 (31 ديسمبر/كانون الأول 2017)، ص ص. 1-6، 6ص.
الناشر
Hindawi Publishing Corporation
تاريخ النشر
2017-11-13
دولة النشر
مصر
عدد الصفحات
6
التخصصات الرئيسية
الملخص EN
Chronic Mucocutaneous Candidiasis (CMC) is the chronic, recurrent, noninvasive Candida infections of the skin, mucous membranes, and nails.
A 26-month-old girl was admitted with the complaints of recurrent oral Candidiasis, diarrhea, and respiratory infections.
Candida albicans grew in oral mucosa swab.
CMV and EBV DNA titers were elevated.
She had hypergammaglobulinemia; IgE level, percentages of lymphocyte subgroups, and in vitro T-cell proliferation responses were normal.
She had parenchymal nodules within the lungs and a calcific nodule in the liver.
Chronic-recurrent infections with different pathogens leading to significant morbidity suggested combined immunodeficiency, CMC, or Mendelian susceptibility to mycobacterial diseases.
Genetic analysis revealed a predefined heterozygous gain-of-function mutation (GOF) (c.1154 C>T, p.Thr385Met) in the gene coding STAT1 molecule.
Hematopoietic stem cell transplantation (HSCT) was planned because of severe recurring infections.
Patients with STAT1 GOF mutations may exhibit diverse phenotypes including infectious and noninfectious findings.
HSCT should be considered as an early treatment option before permanent organ damage leading to morbidity and mortality develops.
This case is presented to prompt clinicians to consider STAT1 GOF mutations in the differential diagnosis of patients with chronic Candidiasis and recurrent infections with multiple organisms, since these mutations are responsible for nearly half of CMC cases reported.
نمط استشهاد جمعية علماء النفس الأمريكية (APA)
Akarcan, Sanem& Ulusoy, Ezgi& Karaca, Neslihan& Isik, Esra& Aksu, Guzide& Migaud, Melanie…[et al.]. 2017. Gain-of-Function Mutations in STAT1: A Recently Defined Cause for Chronic Mucocutaneous Candidiasis Disease Mimicking Combined Immunodeficiencies. Case Reports in Immunology،Vol. 2017, no. 2017, pp.1-6.
https://search.emarefa.net/detail/BIM-1146158
نمط استشهاد الجمعية الأمريكية للغات الحديثة (MLA)
Akarcan, Sanem…[et al.]. Gain-of-Function Mutations in STAT1: A Recently Defined Cause for Chronic Mucocutaneous Candidiasis Disease Mimicking Combined Immunodeficiencies. Case Reports in Immunology No. 2017 (2017), pp.1-6.
https://search.emarefa.net/detail/BIM-1146158
نمط استشهاد الجمعية الطبية الأمريكية (AMA)
Akarcan, Sanem& Ulusoy, Ezgi& Karaca, Neslihan& Isik, Esra& Aksu, Guzide& Migaud, Melanie…[et al.]. Gain-of-Function Mutations in STAT1: A Recently Defined Cause for Chronic Mucocutaneous Candidiasis Disease Mimicking Combined Immunodeficiencies. Case Reports in Immunology. 2017. Vol. 2017, no. 2017, pp.1-6.
https://search.emarefa.net/detail/BIM-1146158
نوع البيانات
مقالات
لغة النص
الإنجليزية
الملاحظات
Includes bibliographical references
رقم السجل
BIM-1146158
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