RGD Reference Report - Molecular genetic analysis of Hungarian patients with the hyper-immunoglobulin M syndrome. - Rat Genome Database

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Molecular genetic analysis of Hungarian patients with the hyper-immunoglobulin M syndrome.

Authors: Erdos, M  Lakos, G  Derfalvi, B  Notarangelo, LD  Durandy, A  Marodi, L 
Citation: Erdos M, etal., Mol Immunol. 2008 Jan;45(1):278-82. Epub 2007 Jun 5.
RGD ID: 11039457
Pubmed: PMID:17553565   (View Abstract at PubMed)
DOI: DOI:10.1016/j.molimm.2007.04.014   (Journal Full-text)

We have identified 9 disease-causing mutations in 18 hyper-immunoglobulin M (HIGM) syndrome patients from ten unrelated Hungarian families. CD40L mutation resulted in X-linked combined immunodeficiency in 11 patients (6 families) and AICDA mutation caused autosomal recessive HIGM characterized by B cell immunodeficiency in 5 patients (3 families). Two brothers with a genetically undefined form of HIGM and clinical manifestations of B cell deficiency were also included in this study. B cells from these two patients had defective CSR and skewed pattern of somatic hypermutation. Altogether, a novel CD40L truncation mutation (c.470 delA) and a new missense AICDA mutation (p.E58K) were identified. Carrier status was defined in 13 clinically healthy individuals allowing prenatal genetic testing that was performed in two affected families. This is the first comprehensive overview of molecular genetic features of Hungarian patients with HIGM syndrome.



RGD Manual Disease Annotations    Click to see Annotation Detail View

  
Object SymbolSpeciesTermQualifierEvidenceWithNotesSourceOriginal Reference(s)
CD40LGHumanCD40 ligand deficiency  IAGP DNA:mutations:multiple (human)RGD 
Cd40lgRatCD40 ligand deficiency  ISOCD40LG (Homo sapiens)DNA:mutations:multiple (human)RGD 
Cd40lgMouseCD40 ligand deficiency  ISOCD40LG (Homo sapiens)DNA:mutations:multiple (human)RGD 
AICDAHumanhyperimmunoglobulin syndrome  IAGP DNA:missense mutations:CDS:p.E58K (c.172G>A), p.C87R (c.259T>C), p.L113P (c.338T>C) (human)RGD 
AicdaRathyperimmunoglobulin syndrome  ISOAICDA (Homo sapiens)DNA:missense mutations:CDS:p.E58K (c.172G>A), p.C87R (c.259T>C), p.L113P (c.338T>C) (human)RGD 
AicdaMousehyperimmunoglobulin syndrome  ISOAICDA (Homo sapiens)DNA:missense mutations:CDS:p.E58K (c.172G>A), p.C87R (c.259T>C), p.L113P (c.338T>C) (human)RGD 

Objects Annotated

Genes (Rattus norvegicus)
Aicda  (activation-induced cytidine deaminase)
Cd40lg  (CD40 ligand)

Genes (Mus musculus)
Aicda  (activation-induced cytidine deaminase)
Cd40lg  (CD40 ligand)

Genes (Homo sapiens)
AICDA  (activation induced cytidine deaminase)
CD40LG  (CD40 ligand)


Additional Information