Skip to search formSkip to main contentSkip to account menu

Hyper-IgM Immunodeficiency Syndrome, Type 3

Known as: Hyper-IgM Immunodeficiency Syndrome Type 3, HIGM3 Syndrome, Hyper IgM Syndrome 3 
Hyper-IgM immunodeficiency subtype resulting from mutation in the gene encoding CD40 ANTIGEN.
National Institutes of Health

Related topics

Related topics

2 relations
Autosomal recessive inheritance

Broader (1)

Hyperimmunoglobulin M syndrome

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
Review
2018
Review
2018
Haematopoietic stem cell transplant for hyper-IgM syndrome due to CD40 defects: a single-centre experience
Hyper-IgM syndrome due to CD40 deficiency (HIGM3) is a rare disease with only a few reported cases of haematopoietic stem cell… 
Review
2013
Review
2013
Clinical, Immunological, and Molecular Characterization of Hyper-IgM Syndrome Due to CD40 Deficiency in Eleven Patients
Hyper-IgM syndrome due to CD40 deficiency (HIGM3) is a rare form of primary immunodeficiency with few reported cases. In this… 
2012
2012
Hyper‐Immunoglobulin M Syndrome Type 3 with Normal CD40 Cell Surface Expression
Mutations of the CD40 gene have been found in patients with autosomal recessive hyper‐immunoglobulin M (HIGM) syndrome type 3… 
2010
2010
A new guise for hyper-IgM syndrome.
The hyper-IgM syndromes (HIGMs) are immunodeficiencies that have taught us much about the details of humoral immunity. In this… 
2008
2008
HIGM3 patients: understanding the mutation effect to develop a therapeutic approach
Review
2005
Review
2005
Hyper immunoglobulin M syndrome due to CD40 deficiency: clinical, molecular, and immunological features
Summary:  CD40 is a member of the tumor necrosis factor receptor family, which is expressed by a variety of cells including B… 
Review
2005
Review
2005
A PRACTICAL APPROACH TO ANTIBODY DEFICIENCY SYNDROMES
Antibody deficiency diseases are common collectively. The clinical presentation of these disorders is extremely variable and they… 
Highly Cited
2003
Highly Cited
2003
Hyper-IgM syndrome type 4 with a B lymphocyte-intrinsic selective deficiency in Ig class-switch recombination.
Hyper-IgM syndrome (HIGM) is a heterogeneous condition characterized by impaired Ig class-switch recombination (CSR). The… 
Highly Cited
2003
Highly Cited
2003
Functional defects of dendritic cells in patients with CD40 deficiency.
We have recently identified 2 patients with a rare autosomal recessive form of hyper IgM disease, known as HIGM3, caused by… 
2003
2003
Inducible CO-stimulator molecule, a candidate gene for defective isotype switching, is normal in patients with hyper-IgM syndrome of unknown molecular diagnosis.
By clicking accept or continuing to use the site, you agree to the terms outlined in our Privacy Policy (opens in a new tab), Terms of Service (opens in a new tab), and Dataset License (opens in a new tab)