Hyper-IgM syndrome type 4 with a B lymphocyte–intrinsic selective deficiency in Ig class-switch recombination
نویسندگان
چکیده
منابع مشابه
Hyper-IgM syndrome type 4 with a B lymphocyte-intrinsic selective deficiency in Ig class-switch recombination.
Hyper-IgM syndrome (HIGM) is a heterogeneous condition characterized by impaired Ig class-switch recombination (CSR). The molecular defects that have so far been associated with this syndrome - which affect the CD40 ligand in HIGM type 1 (HIGM1), CD40 in HIGM3, and activation-induced cytidine deaminase (AID) in HIGM2 - do not account for all cases. We investigated the clinical and immunological...
متن کاملonychomadesis in a patient with immunoglobulin class switch recombination deficiency
immunoglobulin class switch recombination deficiencies (ig csr deficiencies) or hyper igm syndromes (higm) are a group of primary immunodeficiency diseases, characterized by defective cd40 signaling of b cells resulting into a csr and a somatic hypermutation. the affected patients are characterized with reduced serum levels of igg and iga, and normal or elevated level of igm, which lead to incr...
متن کاملNibrin functions in Ig class-switch recombination.
Nijmegen breakage syndrome (NBS) is a rare autosomal recessive disorder characterized by predisposition to hematopoietic malignancy, cell-cycle checkpoint defects, and ionizing radiation sensitivity. NBS is caused by a hypomorphic mutation of the NBS1 gene, encoding nibrin, which forms a protein complex with Mre11 and Rad50, both involved in DNA repair. Nibrin localizes to chromosomal sites of ...
متن کاملOnychomadesis in a patient with immunoglobulin class switch recombination deficiency.
Immunoglobulin class switch recombination deficiencies (Ig CSR deficiencies) or Hyper IgM syndromes (HIGM) are a group of primary immunodeficiency diseases, characterized by defective CD40 signaling of B cells, resulting in reduced CSR and somatic hypermutation. The affected patients are characterized by low serum levels of IgG and IgA, and normal or elevated levels of IgM, which lead to an inc...
متن کاملPresence of immunoglobulin (Ig) M and IgG double isotype-bearing cells and defect of switch recombination in hyper IgM immunodeficiency.
We established a transformed B cell line expressing both IgM and IgG on the cell surface from a patient with hyper IgM immunodeficiency using Epstein-Barr viruses. DNA and RNA of the cells were analyzed. DNA rearrangements of Ig JH gene loci were observed on both chromosomes. Cloning and DNA sequence analyses showed that one has a VHDHJH structure while the other has a DHJH structure. Southern ...
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: Journal of Clinical Investigation
سال: 2003
ISSN: 0021-9738
DOI: 10.1172/jci18161