دورية أكاديمية

Clinical, Immunological, and Molecular Findings in 57 Patients With Severe Combined Immunodeficiency (SCID) From India

التفاصيل البيبلوغرافية
العنوان: Clinical, Immunological, and Molecular Findings in 57 Patients With Severe Combined Immunodeficiency (SCID) From India
المؤلفون: Jahnavi Aluri, Mukesh Desai, Maya Gupta, Aparna Dalvi, Antony Terance, Sergio D. Rosenzweig, Jennifer L. Stoddard, Julie E. Niemela, Vasundhara Tamankar, Snehal Mhatre, Umair Bargir, Manasi Kulkarni, Nitin Shah, Amita Aggarwal, Harsha Prasada Lashkari, Vidya Krishna, Geeta Govindaraj, Manas Kalra, Manisha Madkaikar
المصدر: Frontiers in Immunology, Vol 10 (2019)
بيانات النشر: Frontiers Media S.A., 2019.
سنة النشر: 2019
المجموعة: LCC:Immunologic diseases. Allergy
مصطلحات موضوعية: PID, flow cytometry, TREC, sanger sequencing, targeted next generation sequencing, Immunologic diseases. Allergy, RC581-607
الوصف: Severe combined immunodeficiency (SCID) represents one of the most severe forms of primary immunodeficiency (PID) disorders characterized by impaired cellular and humoral immune responses. Here, we report the clinical, immunological, and molecular findings in 57 patients diagnosed with SCID from India. Majority of our patients (89%) presented within 6 months of age. The most common clinical manifestations observed were recurrent pneumonia (66%), failure to thrive (60%), chronic diarrhea (35%), gastrointestinal infection (21%), and oral candidiasis (21%). Hematopoietic Stem Cell Transplantation (HSCT) is the only curative therapy available for treating these patients. Four patients underwent HSCT in our cohort but had a poor survival outcome. Lymphopenia (absolute lymphocyte counts/μL
نوع الوثيقة: article
وصف الملف: electronic resource
اللغة: English
تدمد: 1664-3224
Relation: https://www.frontiersin.org/article/10.3389/fimmu.2019.00023/full; https://doaj.org/toc/1664-3224
DOI: 10.3389/fimmu.2019.00023
URL الوصول: https://doaj.org/article/8e974e13c95e4d4d97a0a1e658c422b0
رقم الأكسشن: edsdoj.8e974e13c95e4d4d97a0a1e658c422b0
قاعدة البيانات: Directory of Open Access Journals
الوصف
تدمد:16643224
DOI:10.3389/fimmu.2019.00023