|
Hyperimmunoglobulin M syndrome
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
These data suggest that a defect in gp39 is the basis of X-linked HIM.
|
7678782 |
1993 |
|
Hyperimmunoglobulin M syndrome
|
0.200 |
AlteredExpression
|
disease |
BEFREE |
We report here the lack of CD40L expression in four unrelated male children with the hyper-IgM syndrome.
|
8094231 |
1993 |
|
Hyperimmunoglobulin M syndrome
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Organization of the human CD40L gene: implications for molecular defects in X chromosome-linked hyper-IgM syndrome and prenatal diagnosis.
|
7907793 |
1994 |
|
Hyperimmunoglobulin M syndrome
|
0.200 |
Biomarker
|
disease |
BEFREE |
In comparison with B cells from controls or patients with hyper IgM syndrome and mutant CD40 ligand, B cells from the patients with hyper IgM syndrome and normal CD40 ligand were defective in their ability to secrete IgE (P < 0.02) or express activation markers, CD25 and CD23 (P < 0.02) in response to stimulation with anti-CD40.
|
7523449 |
1994 |
|
Hyperimmunoglobulin M syndrome
|
0.200 |
Biomarker
|
disease |
BEFREE |
We isolated and characterized the human genomic clone for CD40 L to obtain information about the transcriptional regulatory regions of the gene and to develop a molecular diagnostic method for X-HIM patients.
|
7999797 |
1995 |
|
Hyperimmunoglobulin M syndrome
|
0.200 |
AlteredExpression
|
disease |
BEFREE |
Defective expression of CD40L in humans leads to an inability to produce isotypes other than IgM (hyper IgM syndrome), and to an absence of germinal centers.
|
8809473 |
1996 |
|
Hyperimmunoglobulin M syndrome
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the gene for CD40 ligand are responsible for the X-linked form of hyper IgM syndrome.
|
8550833 |
1996 |
|
Hyperimmunoglobulin M syndrome
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
We present a boy with hyper-IgM syndrome with a previously not reported mutation in the CD40 ligand gene.
|
9030857 |
1997 |
|
Hyperimmunoglobulin M syndrome
|
0.200 |
Biomarker
|
disease |
BEFREE |
Altogether, these results suggest that CD40 ligand-positive hyper-IgM syndrome could be genetically heterogeneous, although phenotypic variability is not excluded, and that an early defect in the CD40-triggered activation cascade can account for defective Ig class switching in some patients with CD40 ligand-positive hyper-IgM syndrome.
|
9058789 |
1997 |
|
Hyperimmunoglobulin M syndrome
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
CD154 variants associated with hyper-IgM syndrome can form oligomers and trigger CD40-mediated signals.
|
10559240 |
1999 |
|
Hyperimmunoglobulin M syndrome
|
0.200 |
AlteredExpression
|
disease |
BEFREE |
Since this patient is the sister of a boy affected with a hyper-IgM syndrome due to a defect in CD40 ligand (CD40L) expression, the involvement of CD40L in this phenotypic expression was investigated.
|
9933119 |
1999 |
|
Hyperimmunoglobulin M syndrome
|
0.200 |
Biomarker
|
disease |
BEFREE |
To determine the relative frequency of mutations in AID, we evaluated a group of 27 patients with hyper IgM syndrome who did not have defects in CD40 ligand and 23 patients with common variable immunodeficiency.
|
11112359 |
2000 |
|
Hyperimmunoglobulin M syndrome
|
0.200 |
Biomarker
|
disease |
LHGDN |
CD40:CD40L interactions in X-linked and non-X-linked hyper-IgM syndromes.
|
11817328 |
2001 |
|
Hyperimmunoglobulin M syndrome
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
The most common form of hyper-IgM syndrome is of X-linked inheritance and caused by CD40 ligand gene mutations.
|
11885719 |
2001 |
|
Hyperimmunoglobulin M syndrome
|
0.200 |
Biomarker
|
disease |
BEFREE |
CD40:CD40L interactions in X-linked and non-X-linked hyper-IgM syndromes.
|
11817328 |
2001 |
|
Hyperimmunoglobulin M syndrome
|
0.200 |
GeneticVariation
|
disease |
LHGDN |
CD40 ligand-deficient T cells from X-linked hyper-IgM syndrome carriers have intrinsic priming capability.
|
11801691 |
2002 |
|
Hyperimmunoglobulin M syndrome
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Mutations of CD40 ligand in two patients with hyper-IgM syndrome.
|
12952351 |
2003 |
|
Hyperimmunoglobulin M syndrome
|
0.200 |
Biomarker
|
disease |
BEFREE |
X-linked hyperimmunoglobulin M syndrome was ultimately diagnosed with decreasing immunoglobulin-G, A, and E (immunoglobulin G = 51.3 mg/dL, immunoglobulin A = 8.32 mg/dL, immunoglobulin E <17.5 mg/dL), elevating immunoglobulin M (immunoglobulin M = 140 mg/dL), and decreasing T-cell expression of the CD40 ligand over flow cytometry.
|
14582569 |
2003 |
|
Hyperimmunoglobulin M syndrome
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
X-linked hyper-IgM syndrome (XHIM), or hyper-IgM syndrome type 1 (HIGM1), is a rare primary immunodeficiency disorder susceptible to recurrent bacterial infection and opportunistic infection such as Pneumocystis carinii and Cryptosporidium parvum.
|
15114594 |
2004 |
|
Hyperimmunoglobulin M syndrome
|
0.200 |
Biomarker
|
disease |
BEFREE |
Hyper-IgM syndrome type 1 (HIGM1) is a primary immunodeficiency characterized by recurrent bacterial and opportunistic infections, associated with normal or high serum level of IgM and decreased serum levels of IgG, IgA and IgE due to the defect of class switch recombination.
|
16311023 |
2006 |
|
Hyperimmunoglobulin M syndrome
|
0.200 |
GeneticVariation
|
disease |
LHGDN |
Progressive multifocal leukoencephalopathy complicating X-linked hyper-IgM syndrome in an adult.
|
17106168 |
2006 |
|
Hyperimmunoglobulin M syndrome
|
0.200 |
Biomarker
|
disease |
LHGDN |
Osteopenia in X-linked hyper-IgM syndrome reveals a regulatory role for CD40 ligand in osteoclastogenesis.
|
17360404 |
2007 |
|
Hyperimmunoglobulin M syndrome
|
0.200 |
CausalMutation
|
disease |
CLINVAR |
"Clinical follow-up of 11 Argentinian CD40L-deficient patients with 7 unique mutations including the so-called ""milder"" mutants."
|
17351759 |
2007 |
|
Hyperimmunoglobulin M syndrome
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Severe congenital neutropenia or hyper-IgM syndrome? A novel mutation of CD40 ligand in a patient with severe neutropenia.
|
18594157 |
2008 |
|
Hyperimmunoglobulin M syndrome
|
0.200 |
GeneticVariation
|
disease |
LHGDN |
Molecular characterization of patients with X-linked Hyper-IgM syndrome: description of two novel CD40L mutations.
|
19170966 |
2009 |