|
Hyper-IgM Immunodeficiency Syndrome, Type 1
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
<b>Background</b>: Mutations in CD40 ligand gene (<i>CD40L</i>) affecting immunoglobulin class-switch recombination and somatic hypermutation can result in X-Linked Hyper IgM Syndrome (HIGM1, XHIGM), a kind of rare serious primary immunodeficiency disease (PID) characterized by the deficiency of IgG, IgA and IgE and normal or increased serum concentrations of IgM.
|
31401902 |
2020 |
|
Hyper-IgM Immunodeficiency Syndrome, Type 1
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Molecular analysis revealed a functional mutation across the CD40L gene (NM_000074: exon5: c.T464C) resulted in amino acid change p.L155P attributed to X-linked hyper IgM syndrome.
|
29525420 |
2019 |
|
Hyper-IgM Immunodeficiency Syndrome, Type 1
|
0.800 |
AlteredExpression
|
disease |
BEFREE |
Flow cytometric evaluation of CD40L expression should be performed for patients suspected to have X-linked hyper-IgM syndrome.
|
31572394 |
2019 |
|
Hyper-IgM Immunodeficiency Syndrome, Type 1
|
0.800 |
Biomarker
|
disease |
BEFREE |
CD40 ligand (CD40L) deficiency or X-linked Hyper-IgM syndrome is a severe primary immunodeficiency caused by mutations in the CD40L gene.
|
30681380 |
2019 |
|
Hyper-IgM Immunodeficiency Syndrome, Type 1
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
Integrin Binding to the Trimeric Interface of CD40L Plays a Critical Role in CD40/CD40L Signaling.
|
31331973 |
2019 |
|
Hyper-IgM Immunodeficiency Syndrome, Type 1
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Among 550 registered patients, the predominant genetic defects associated with agammaglobulinemia (48 Bruton's tyrosine kinase [BTK] and 6 μ heavy chain deficiencies), HIgM syndrome (21 CD40 ligand and 7 activation-induced cytidine deaminase deficiencies), and CVID (17 lipopolysaccharides-responsive beige-like anchor deficiency and 12 atypical Immunodeficiency, Centromeric instability, and Facial dysmorphism syndromes) were identified.
|
30240888 |
2019 |
|
Hyper-IgM Immunodeficiency Syndrome, Type 1
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the CD40 ligand (CD40L) gene (<i>CD40LG</i>) lead to X-linked hyper-IgM syndrome (X-HIGM), which is a primary immunodeficiency (PID) characterized by decreased serum levels of IgG and IgA and normal or elevated IgM levels.
|
29780795 |
2018 |
|
Hyper-IgM Immunodeficiency Syndrome, Type 1
|
0.800 |
Biomarker
|
disease |
BEFREE |
Prospects for modulating the CD40/CD40L pathway in the therapy of the hyper-IgM syndrome.
|
29132233 |
2018 |
|
Hyper-IgM Immunodeficiency Syndrome, Type 1
|
0.800 |
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 |
|
Hyper-IgM Immunodeficiency Syndrome, Type 1
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Disseminated cryptococcosis in two boys with novel mutation of CD40 Ligand-Associated X-linked hyper-IgM syndrome.
|
30447657 |
2018 |
|
Hyper-IgM Immunodeficiency Syndrome, Type 1
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
X-linked hyper-immunoglobulin M (hyper-IgM) syndrome (XHIM) is a primary immunodeficiency due to mutations in CD40 ligand that affect immunoglobulin class-switch recombination and somatic hypermutation.
|
29847792 |
2018 |
|
Hyper-IgM Immunodeficiency Syndrome, Type 1
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Clinical efficacy of a next-generation sequencing gene panel for primary immunodeficiency diagnostics.
|
29077208 |
2018 |
|
Hyper-IgM Immunodeficiency Syndrome, Type 1
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
The diagnosis of XHIGM was ultimately confirmed by detection of elevated serum IgM concentration, decreased serum IgG and IgE concentration, and identification of a mutation c.654C>A (p.C218X) in CD40L gene.
|
29245273 |
2017 |
|
Hyper-IgM Immunodeficiency Syndrome, Type 1
|
0.800 |
Biomarker
|
disease |
BEFREE |
The clinical manifestations of XHIGM in our patient had several unique features, including the presentation with PAP, normal serum IgA, and expression of non-functional CD40L on activated T cells.
|
27324886 |
2016 |
|
Hyper-IgM Immunodeficiency Syndrome, Type 1
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Hyper IgM Syndrome: a Report from the USIDNET Registry.
|
27189378 |
2016 |
|
Hyper-IgM Immunodeficiency Syndrome, Type 1
|
0.800 |
Biomarker
|
disease |
BEFREE |
Targeted gene editing restores regulated CD40L function in X-linked hyper-IgM syndrome.
|
26903548 |
2016 |
|
Hyper-IgM Immunodeficiency Syndrome, Type 1
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
Novel and recurrent AID mutations underlie prevalent autosomal recessive form of HIGM in consanguineous patients.
|
26545377 |
2016 |
|
Hyper-IgM Immunodeficiency Syndrome, Type 1
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
The long-term outcome of X-linked hyper-IgM syndrome (XHIM) caused by mutations in CD40LG is poor, and the only curative treatment is hematopoietic stem cell transplantation (HSCT).
|
25840720 |
2015 |
|
Hyper-IgM Immunodeficiency Syndrome, Type 1
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
X-linked hyper-IgM syndrome with CD40LG mutation: two case reports and literature review in Taiwanese patients.
|
23010537 |
2015 |
|
Hyper-IgM Immunodeficiency Syndrome, Type 1
|
0.800 |
Biomarker
|
disease |
BEFREE |
Our study strongly suggests that genetic diagnosis for XHIGM should always be performed when clinical data support this diagnosis and CD40L protein is present.
|
25752457 |
2015 |
|
Hyper-IgM Immunodeficiency Syndrome, Type 1
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Hematopoietic stem cell transplant for hyper-IgM syndrome due to CD40L defects: A single-center experience.
|
26073206 |
2015 |
|
Hyper-IgM Immunodeficiency Syndrome, Type 1
|
0.800 |
Biomarker
|
disease |
BEFREE |
C57-CD40L(-/-) mouse is a useful surrogate model of X-HIGM syndrome for studying immune responses elicited against pathogens.
|
26064940 |
2015 |
|
Hyper-IgM Immunodeficiency Syndrome, Type 1
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
These mutations reflected the heterogeneity of CD40L gene and expanded our understanding of XHIGM.
|
25215306 |
2014 |
|
Hyper-IgM Immunodeficiency Syndrome, Type 1
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
c.761C>T Mutation Linked Hyper IgM Syndrome Presenting with Hypertransaminasemia and Arthritis.
|
25541662 |
2014 |
|
Hyper-IgM Immunodeficiency Syndrome, Type 1
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
c.761C>T Mutation Linked Hyper IgM Syndrome Presenting with Hypertransaminasemia and Arthritis.
|
25541662 |
2014 |