|
Hyper-IgM Immunodeficiency Syndrome, Type 1
|
0.800 |
GermlineCausalMutation
|
disease |
ORPHANET |
|
|
|
|
Hyper-IgM Immunodeficiency Syndrome, Type 1
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
|
Hyper-IgM Immunodeficiency Syndrome, Type 1
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
Mapping of the X-linked form of hyper-IgM syndrome (HIGM1) to Xq26 by close linkage to HPRT.
|
1427881 |
1992 |
|
Hyper-IgM Immunodeficiency Syndrome, Type 1
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the CD40L gene are now known to cause X-linked hyper-IgM syndrome (HIGM1), an immunodeficiency characterized by the absence of serum IgG, IgA and IgE.
|
7506037 |
1993 |
|
Hyper-IgM Immunodeficiency Syndrome, Type 1
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
The recent discovery that defects in the gene encoding the CD40 ligand are the underlying cause of the X-linked hyper IgM syndrome highlights the role of CD40 and its ligand in Ig-isotype switching.
|
7507684 |
1993 |
|
Hyper-IgM Immunodeficiency Syndrome, Type 1
|
0.800 |
Biomarker
|
disease |
BEFREE |
Unlike some other X-linked defects where extreme Lyonization may lead to disease, a small population of cells expressing the wild-type gp39 is sufficient to maintain normal humoral immunity and prevent the clinical symptoms of X-HIM.
|
7518839 |
1994 |
|
Hyper-IgM Immunodeficiency Syndrome, Type 1
|
0.800 |
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 |
|
Hyper-IgM Immunodeficiency Syndrome, Type 1
|
0.800 |
Biomarker
|
disease |
BEFREE |
Taken together, these results show that in vitro signaling through CD40 rescues IgE but not IgG or IgA secretion by peripheral blood X-HIM B cells and suggest that in vivo CD40 and CD40L interaction might be necessary for IgG and IgA differentiation in X-HIM.
|
7532185 |
1995 |
|
Hyper-IgM Immunodeficiency Syndrome, Type 1
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
Taken together, these results show that in vitro signaling through CD40 rescues IgE but not IgG or IgA secretion by peripheral blood X-HIM B cells and suggest that in vivo CD40 and CD40L interaction might be necessary for IgG and IgA differentiation in X-HIM.
|
7532185 |
1995 |
|
Hyper-IgM Immunodeficiency Syndrome, Type 1
|
0.800 |
Biomarker
|
disease |
BEFREE |
Immunohistologic analysis of ineffective CD40-CD40 ligand interaction in lymphoid tissues from patients with X-linked immunodeficiency with hyper-IgM. Abortive germinal center cell reaction and severe depletion of follicular dendritic cells.
|
7539026 |
1995 |
|
Hyper-IgM Immunodeficiency Syndrome, Type 1
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Patients with X-linked hyper-IgM syndrome (HIGMX-1) in their CD40L gene are unable to switch from IgM to IgG, IgA and IgE.
|
7542090 |
1995 |
|
Hyper-IgM Immunodeficiency Syndrome, Type 1
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
These data suggest that a defect in gp39 is the basis of X-linked HIM.
|
7678782 |
1993 |
|
Hyper-IgM Immunodeficiency Syndrome, Type 1
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
These data suggest that a defect in gp39 is the basis of X-linked HIM.
|
7678782 |
1993 |
|
Hyper-IgM Immunodeficiency Syndrome, Type 1
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
Defective expression of T-cell CD40 ligand causes X-linked immunodeficiency with hyper-IgM.
|
7679206 |
1993 |
|
Hyper-IgM Immunodeficiency Syndrome, Type 1
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
Defective expression of T-cell CD40 ligand causes X-linked immunodeficiency with hyper-IgM.
|
7679206 |
1993 |
|
Hyper-IgM Immunodeficiency Syndrome, Type 1
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
CD40 ligand gene defects responsible for X-linked hyper-IgM syndrome.
|
7679801 |
1993 |
|
Hyper-IgM Immunodeficiency Syndrome, Type 1
|
0.800 |
Biomarker
|
disease |
BEFREE |
CD40 ligand gene defects responsible for X-linked hyper-IgM syndrome.
|
7679801 |
1993 |
|
Hyper-IgM Immunodeficiency Syndrome, Type 1
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
Characterization of nine novel mutations in the CD40 ligand gene in patients with X-linked hyper IgM syndrome of various ancestry.
|
7717401 |
1995 |
|
Hyper-IgM Immunodeficiency Syndrome, Type 1
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Characterization of nine novel mutations in the CD40 ligand gene in patients with X-linked hyper IgM syndrome of various ancestry.
|
7717401 |
1995 |
|
Hyper-IgM Immunodeficiency Syndrome, Type 1
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Our knowledge of the CD40L gene structure will prove useful for the identification of additional mutations in HIGM1 and for performing genetic counseling about this disease.
|
7907793 |
1994 |
|
Hyper-IgM Immunodeficiency Syndrome, Type 1
|
0.800 |
AlteredExpression
|
disease |
BEFREE |
Further work revealed that various mutations of the TRAP/CD40 ligand (CD40L) gene may lead to a defective expression of the TRAP/CD40L molecule on the T-cell surface in HIGM1 patients.
|
7915248 |
1994 |
|
Hyper-IgM Immunodeficiency Syndrome, Type 1
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
CD40 ligand (CD40L) expression and B cell function in agammaglobulinemia with normal or elevated levels of IgM (HIM). Comparison of X-linked, autosomal recessive, and non-X-linked forms of the disease, and obligate carriers.
|
7916370 |
1994 |
|
Hyper-IgM Immunodeficiency Syndrome, Type 1
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
A defect in the CD40L has been shown recently to be responsible for the lack of IgE, IgA, and IgG, characteristic of the childhood X-linked immunodeficiency, hyper IgM syndrome (HIGM1).
|
7964460 |
1994 |
|
Hyper-IgM Immunodeficiency Syndrome, Type 1
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Structural organization of the gene for CD40 ligand: molecular analysis for diagnosis of X-linked hyper-IgM syndrome.
|
7999797 |
1995 |
|
Hyper-IgM Immunodeficiency Syndrome, Type 1
|
0.800 |
AlteredExpression
|
disease |
BEFREE |
We report here the lack of CD40L expression in four unrelated male children with the hyper-IgM syndrome.
|
8094231 |
1993 |