Revertant somatic mosaicism in primary immunodeficiency diseases
نویسندگان
چکیده
منابع مشابه
Primary T-cell immunodeficiency with functional revertant somatic mosaicism in CD247.
To the Editor: T lymphocytes detect antigens with the T-cell receptor (TCR) composed of a variable heterodimer (either ab or gd), 2 invariant heterodimers (CD3gε and CD3dε), and an invariant homodimer (CD247 or zz). Because of the crucial role of TCR signaling in thymic selection, mutations in TCR, CD3, or CD247 selectively impair T-cell development, albeit to different degrees: deficiency of C...
متن کاملPrevalence of Primary Immunodeficiency Diseases in Kerman, Southeast of Iran
Objective: Primary immunodeficiency diseases (PID) are rare and heterogeneous congenital diseases leading to increased unusual susceptibility to developing infections and causingsome malignancies and autoimmune diseases. This study was conducted to evaluate the epidemiological characteristics of primary these diseases in patients attending the clinic of immunodeficiency diseases in Kerman.Subje...
متن کاملSomatic revertant mosaicism in a patient with leukocyte adhesion deficiency type 1.
Leukocyte adhesion deficiency type 1 (LAD-1) is an autosomal recessive disorder caused by mutations in the ITGB2 (CD18) gene and characterized by recurrent severe infections, impaired pus formation, and defective wound healing. We describe an unusual case of severe phenotypic LAD-1 presenting with somatic mosaicism. The patient is a compound heterozygote bearing 2 different frameshift mutations...
متن کاملA Review of Primary Immunodeficiency Diseases with Skin Manifestations
Introduction: Primary immunodeficiencies (PID) are rare heterogeneous disorders with defects in which one or more components of the immune system are malfunctioning. Clinical presentations of the patients according to type of immunodeficiency are variable. The majority of these patients are susceptible to infections depending on the type of disorder. In these patients, one of the most important...
متن کاملA "late-but-fitter revertant cell" explains the high frequency of revertant mosaicism in epidermolysis bullosa
Revertant mosaicism, or "natural gene therapy", is the phenomenon in which germline mutations are corrected by somatic events. In recent years, revertant mosaicism has been identified in all major types of epidermolysis bullosa, the group of heritable blistering disorders caused by mutations in the genes encoding epidermal adhesion proteins. Moreover, revertant mosaicism appears to be present i...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: Japanese Journal of Clinical Immunology
سال: 2014
ISSN: 0911-4300,1349-7413
DOI: 10.2177/jsci.37.447