|
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 |
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 |
Prospects for modulating the CD40/CD40L pathway in the therapy of the hyper-IgM syndrome.
|
29132233 |
2018 |
|
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 |
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 |
CausalMutation
|
disease |
CLINVAR |
First report of the Hyper-IgM syndrome Registry of the Latin American Society for Immunodeficiencies: novel mutations, unique infections, and outcomes.
|
24402618 |
2014 |
|
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 |
GeneticVariation
|
disease |
LHGDN |
Molecular characterization of patients with X-linked Hyper-IgM syndrome: description of two novel CD40L mutations.
|
19170966 |
2009 |
|
Hyperimmunoglobulin M syndrome
|
0.200 |
CausalMutation
|
disease |
CLINVAR |
Clinical and laboratory findings in hyper-IgM syndrome with novel CD40L and AICDA mutations.
|
19575287 |
2009 |
|
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 |
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 |
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 |
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 |
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 |
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 |
LHGDN |
CD40 ligand-deficient T cells from X-linked hyper-IgM syndrome carriers have intrinsic priming capability.
|
11801691 |
2002 |
|
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 |
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 |
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 |