|
Hyperimmunoglobulin M syndrome
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Enhanced pAKT was not observed in B cells of healthy controls, patients with common variable immunodeficiency, and hyper IgM syndrome due to CD40L deficiency.
|
29675019 |
2018 |
|
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 |
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 |
GeneticVariation
|
disease |
BEFREE |
Hematopoietic stem cell transplant for hyper-IgM syndrome due to CD40L defects: A single-center experience.
|
26073206 |
2015 |
|
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 |
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 |
GeneticVariation
|
disease |
BEFREE |
Mutations of CD40 ligand in two patients with hyper-IgM syndrome.
|
12952351 |
2003 |
|
Hyperimmunoglobulin M syndrome
|
0.200 |
AlteredExpression
|
disease |
BEFREE |
A novel CD40LG deletion causes the hyper-IgM syndrome with normal CD40L expression in a 6-month-old child.
|
25752457 |
2015 |
|
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 |
Clinical and laboratory findings in hyper-IgM syndrome with novel CD40L and AICDA mutations.
|
19575287 |
2009 |
|
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 (XLHIGM), the most frequent form of the Hyper IgM syndromes is a primary immune deficiency resulting from a mutation in the CD40 ligand gene (CD40LG).
|
30053428 |
2018 |
|
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 |
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 |
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 |
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 |
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 |
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 |
Biomarker
|
disease |
BEFREE |
Prospects for modulating the CD40/CD40L pathway in the therapy of the hyper-IgM syndrome.
|
29132233 |
2018 |
|
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 |
Pitfalls of "hyper"-IgM syndrome: a new CD40 ligand mutation in the presence of low IgM levels. A case report and a critical review of the literature.
|
20981468 |
2010 |
|
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 |
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 |
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 |
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 |