RGD Reference Report - Molecular analysis of a large cohort of patients with the hyper immunoglobulin M (IgM) syndrome. - Rat Genome Database

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Molecular analysis of a large cohort of patients with the hyper immunoglobulin M (IgM) syndrome.

Authors: Lee, WI  Torgerson, TR  Schumacher, MJ  Yel, L  Zhu, Q  Ochs, HD 
Citation: Lee WI, etal., Blood. 2005 Mar 1;105(5):1881-90. Epub 2004 Sep 9.
RGD ID: 8547781
Pubmed: PMID:15358621   (View Abstract at PubMed)
DOI: DOI:10.1182/blood-2003-12-4420   (Journal Full-text)

The hyper immunoglobulin M (IgM) syndrome (HIGM), characterized by recurrent infections, low serum IgG and IgA, normal or elevated IgM, and defective class switch recombination and somatic hypermutation, is a heterogenous disorder with at least 5 distinct molecular defects, including mutations of the genes coding for the CD40 ligand (CD40L) and IKK-gamma (NEMO) genes, both X-linked; and mutations of CD40, activation-induced cytidine deaminase (AICDA), and uracil-DNA glycosylase (UNG), associated with autosomal recessive HIGM syndromes. To investigate the molecular basis of HIGM, we determined the prevalence of mutations affecting these 5 genes in a cohort of 140 patients (130 males and 10 females). Those patients without a molecular diagnosis were subsequently evaluated for mutations of the following genes: inducible CO-stimulator molecule (ICOS), ICOS ligand (ICOSL), and if male, Bruton tyrosine kinase (Btk) and SLAM-associated protein (SAP/SH2D1A). We found mutations of CD40L in 98 males; AICDA in 4 patients (3 males, 1 female); UNG in one adult male; and Btk in 3 boys. Of the remaining 25 males, one infant with hypohidrotic ectodermal dysplasia had a mutation of NEMO. None of the remaining 33 patients (24 males/9 females) had mutations affecting CD40, ICOS, ICOSL, or SH2D1, and are best classified as common variable immune deficiency (CVID), although other genes, including some not yet identified, may be responsible.

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
CD40 ligand deficiency  IAGP 8547781DNA:mutations:exon and intron:multipleRGD 
CD40 ligand deficiency  ISOCD40LG (Homo sapiens)8547781; 8547781DNA:mutations:exon and intron:multipleRGD 

Objects Annotated

Genes (Rattus norvegicus)
Cd40lg  (CD40 ligand)

Genes (Mus musculus)
Cd40lg  (CD40 ligand)

Genes (Homo sapiens)
CD40LG  (CD40 ligand)


Additional Information