Absence of platelet CD40L identifies patients with X-linked hyper IgM syndrome
نویسندگان
چکیده
منابع مشابه
Targeted gene editing restores regulated CD40L function in X-linked hyper-IgM syndrome.
Loss of CD40 ligand (CD40L) expression or function results in X-linked hyper-immunoglobulin (Ig)M syndrome (X-HIGM), characterized by recurrent infections due to impaired immunoglobulin class-switching and somatic hypermutation. Previous attempts using retroviral gene transfer to correct murine CD40L expression restored immune function; however, treated mice developed lymphoproliferative diseas...
متن کاملAbsence of IgD-CD27(+) memory B cell population in X-linked hyper-IgM syndrome.
The present study analyzed peripheral blood B cell populations separated by IgD and CD27 expression in six males with X-linked hyper-IgM syndrome (XHIM). Costimulation of mononuclear cells from most of the patients induced no to low levels of class switching from IgM to IgG and IgA with Staphylococcus aureus Cowan strain (SAC) plus IL-2 or anti-CD40 mAb (anti-CD40) plus IL-10. Measurable levels...
متن کاملClinical and genetic analysis of patients with X-linked hyper-IgM syndrome.
To the Editor : Hyper-immunoglobulin M (IgM) syndromes are characterized by the presence of recurrent infections, low levels of IgG and IgA, and normal to high levels of IgM. The X-linked hyper-IgM (X-HIGM) syndrome is the most frequently observed subtype of hyperIgM syndromes (65–70%) and results from defects in the CD40L gene, which encodes for the CD40 ligand (CD154) (1–3). In this study, a ...
متن کاملClinical Features and Genetic Analysis of 20 Chinese Patients with X-Linked Hyper-IgM Syndrome
X-linked hyper-IgM syndrome (XHIGM) is one type of primary immunodeficiency diseases, resulting from defects in the CD40 ligand/CD40 signaling pathways. We retrospectively analyzed the clinical and molecular features of 20 Chinese patients diagnosed and followed up in hospitals affiliated to Shanghai Jiao Tong University School of Medicine from 1999 to 2013. The median onset age of these patien...
متن کاملMutational screening of the CD40 ligand (CD40L) gene in patients with X linked hyper-IgM syndrome (XHIM) and determination of carrier status in female relatives.
AIMS To analyse the gene encoding the CD40 ligand (CD40L) in 11 Australian patients from 10 unrelated families with the X linked hyper-IgM (XHIM) phenotype. METHODS The CD40L gene was screened for mutations using direct sequencing of exon specific polymerase chain reaction (PCR) products. RESULTS Ten mutations were identified. Seven of these mutations have been described previously, whereas...
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ژورنال
عنوان ژورنال: Clinical & Experimental Immunology
سال: 2000
ISSN: 0009-9104
DOI: 10.1046/j.1365-2249.2000.01235.x