مرور Volume 3, Issue 2 بر اساس عنوان

در حال نمایش موارد 1 - 5 از 5

  • Atrophic Thymus in the First Case of the Interleukin 10 Receptor Beta Deficiency due to the Homozygous Large Deletion 

    Sadeghi Shabestari, Mahnaz؛ Salami, Fereshte؛ Shahrooei, Mohammad؛ Tavakolifar, Yousef (Research Center For Immunodeficiencies, 2020-08-01)
    Interleukin 10 (IL-10) and IL-10 receptor (IL-10R) deficiencies are among the primary immunodeficiency disorders (PIDs) caused by the loss-of-function mutations in the IL-10 or IL-10R encoding genes. IL-10 and IL-10R ...

  • Common Variable Immunodeficiency (CVID) and Autoimmunity 

    Soltani, Mojde؛ Rezaei, Mahnaz؛ Ganjalikhani Hakemi, Mazdak (Research Center For Immunodeficiencies, 2020-08-01)
    Autoimmunity is observed by almost one-third of patients with CVID. Different mechanisms including genetic defects and dysregulation of innate and adaptive immunity leads to autoimmunity in these patients CVID. The clinical ...

  • A Griscelli Syndrome, with Retropharyngeal Abscess, as First Clinical 

    Shadani, Shiva؛ Safarirad, Molood؛ Ramezanzadeh, Reyhaneh؛ Yousefi, Koroush؛ Vosughi Motlagh, Ahmad (Research Center For Immunodeficiencies, 2020-08-01)
    Griscelli syndrome is a rare autosomal recessive disorder characterized by albinism with immunodeficiency, which usually causes death by early childhood. This syndrome is a primary immune defects that presents with a ...

  • A New Missense Mutation in FANCA Gene Detected by Whole Exome Sequencing in a Case with Fanconi Anemia (a case report) 

    Ataei, Zahra؛ Nazari, Farzad (Research Center For Immunodeficiencies, 2020-08-01)
    Fanconi Anemia (FA) is a rare genetic disease with a mutation in any of 22 FANC genes were known to date. Among all of FANC genes, most frequent mutation has been reported in FANCA gene worldwide responsible for about 60- ...

  • Past and Future of J Project Meetings in Turkey: Evaluation of Last 10 Years 

    reisli, ismail؛ Keles, Sevgi؛ Calıskaner, Ahmet (Research Center For Immunodeficiencies, 2020-08-01)
    J Project is a physician education and clinical research collaboration program which established in ECE countries in 2004. This project aims to increase awareness of primary PID and improve the diagnosis and treatment of ...