PP4 deficiency leads to DNA replication stress that impairs immunoglobulin class switch efficiency
نویسندگان
چکیده
منابع مشابه
onychomadesis 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 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 کاملUracil DNA glycosylase activity is dispensable for immunoglobulin class switch.
Activation-induced cytidine deaminase (AID) is required for the DNA cleavage step in immunoglobulin class switch recombination (CSR). AID is proposed to deaminate cytosine to generate uracil (U) in either mRNA or DNA. In the second instance, DNA cleavage depends on uracil DNA glycosylase (UNG) for removal of U. Using phosphorylated histone gamma-H2AX focus formation as a marker of DNA cleavage,...
متن کاملImmunoglobulin class-switch recombination deficiencies
Immunoglobulin class-switch recombination deficiencies (Ig-CSR-Ds) are rare primary immunodeficiencies characterized by defective switched isotype (IgG/IgA/IgE) production. Depending on the molecular defect in question, the Ig-CSR-D may be combined with an impairment in somatic hypermutation (SHM). Some of the mechanisms underlying Ig-CSR and SHM have been described by studying natural mutants ...
متن کاملIsolated growth hormone deficiency in a patient with immunoglobulin class switch recombination deficiency.
Growth hormone deficiency (GHD) may be associated with a number of immunodeficiency diseases, but its association with immunoglobulin class switch recombination (Ig CSR) deficiencies is very rare. We report the case of a patient with a history of recurrent diarrhea and respiratory infections diagnosed with hyper IgM syndrome on the basis of immunological findings (low serum levels of IgG and Ig...
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ژورنال
عنوان ژورنال: Cell Death & Differentiation
سال: 2018
ISSN: 1350-9047,1476-5403
DOI: 10.1038/s41418-018-0199-z