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X-linked hyper-IgM syndrome
(phenotype)
Summary
General Info
Genetic Markers
Most Correlated Genes
Most Correlated SNPs
CD40LG
No SNPs found
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Pathway Enrichment
Most Correlated Biogroups
CD40 ligand
CALVET_IRINOTECAN_SENSITIVE_VS_RESISTANT_UP
Tumour necrosis factor, conserved site
positive regulation of endothelial cell apoptotic process
Tumour necrosis factor domain
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OMIM - Immunodeficiency disorder
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Literature
Most Relevant Literature
X-linked hyper IgM syndrome: a novel sequence variant associated with an atypical mild phenotype.
The polymorphism p.G219R of CD40L does not cause immunological alterations in vivo: conclusions from…
Pneumocystis jiroveci pneumonia revealing de novo mutation causing X-linked hyper-IgM syndrome in an…
Clinical and molecular characterization of X-linked hyper-IgM syndrome patients in China.
Clinical and genetic analysis of patients with X-linked hyper-IgM syndrome.
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Clinical Trials
Most Relevant Clinical Trials
Study of Immune Responses and Safety of Recombinant Human CD40 Ligand in Patients With X-Linked Hype…
Study of Genetic and Molecular Defects in Primary Immunodeficiency Disorders
Bioequivalence Study to Evaluate the Pharmacokinetics, Safety, and Tolerability of Gammaplex® 10 and…
A Study to Find Out How Safe and Effective Gammaplex® is in Young People With Primary Immunodeficien…
Efficacy, Safety and Pharmacokinetics of Gammaplex in Primary Immunodeficiency Diseases.
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