نتایج جستجو برای: lrba deficiency

تعداد نتایج: 137277  

Journal: :The Journal of allergy and clinical immunology 2012
Abdullah Alangari Abdulrahman Alsultan Nouran Adly Michel J Massaad Iram Shakir Kiani Abdulrahman Aljebreen Emad Raddaoui Abdul-Kareem Almomen Saleh Al-Muhsen Raif S Geha Fowzan S Alkuraya

BACKGROUND Clinical immunology has traditionally relied on accurate phenotyping of the patient's immune dysfunction for the identification of a candidate gene or genes for sequencing and molecular confirmation. Although this is also true for other branches of medicine, the marked variability in immune-related phenotypes and the highly complex network of molecules that confer normal host immunit...

Journal: :Journal of medical genetics 2016
Delfien J A Bogaert Melissa Dullaers Bart N Lambrecht Karim Y Vermaelen Elfride De Baere Filomeen Haerynck

Common variable immunodeficiency (CVID) is a primary antibody deficiency characterised by hypogammaglobulinaemia, impaired production of specific antibodies after immunisation and increased susceptibility to infections. CVID shows a considerable phenotypical and genetic heterogeneity. In contrast to many other primary immunodeficiencies, monogenic forms count for only 2-10% of patients with CVI...

Journal: :Allergology international : official journal of the Japanese Society of Allergology 2018
Hirokazu Kanegane Akihiro Hoshino Tsubasa Okano Takahiro Yasumi Taizo Wada Hidetoshi Takada Satoshi Okada Motoi Yamashita Tzu-Wen Yeh Ryuta Nishikomori Masatoshi Takagi Kohsuke Imai Hans D Ochs Tomohiro Morio

Primary immunodeficiencies (PIDs) are a heterogeneous group of inherited diseases of the immune system. The definite diagnosis of PID is ascertained by genetic analysis; however, this takes time and is costly. Flow cytometry provides a rapid and highly sensitive tool for diagnosis of PIDs. Flow cytometry can evaluate specific cell populations and subpopulations, cell surface, intracellular and ...

Journal: :Annals of the Rheumatic Diseases 2023

Background IgG4-related disease (IgG4RD) is a fibro-inflammatory disorder of unknown etiology. Emerging evidence indicates that chronic inflammation in IgG4RD sustained by persistent mutual activation antigen-specific B and T lymphocytes. Targeting B-T cell co-stimulation represents, therefore, rationale therapeutic approach for IgG4RD. Objectives Threefold aim the present work was (i) to asses...

2018
Matthew B. Johnson Elisa De Franco Hana Lango Allen Aisha Al Senani Nancy Elbarbary Zeynep Siklar Merih Berberoglu Zineb Imane Alireza Haghighi Zahra Razavi Irfan Ullah Saif Alyaarubi Daphne Gardner Sian Ellard Andrew T. Hattersley Sarah E. Flanagan

2016
Muhammad Sohail Aqeel Ahmad Shakeel Ahmed Khan

Aspergillus terreus MS105 was originally isolated from soil and screened for cellulase production in the presence of various carbon sources including carboxymethyl cellulose (CMC), avicel, sigmacell, filter-paper and salicin. CMC induced the production of endoglucanase (EG) and filter-paperase while the levels of β-glucosidase (BGL) were increased when salicin was present in the medium. Nature ...

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