What question did this study set out to answer?

Investigate the molecular and genetic basis of autosomal recessive hyper IgM syndrome in patients who lack surface expression of the CD40 receptor.

October 23, 2001Proceedings of the National Academy of SciencesOpen Access

Mutations of CD40 gene cause an autosomal recessive form of immunodeficiency with hyper IgM

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Investigate the molecular and genetic basis of autosomal recessive hyper IgM syndrome in patients who lack surface expression of the CD40 receptor.
Assessed cell-surface expression of the CD40 receptor in three patients with autosomal recessive hyper IgM syndrome.
Performed sequence analysis of CD40 genomic DNA to identify underlying genetic mutations.
Identified a homozygous silent mutation in exon 5 disrupting an exonic splicing enhancer in one patient, resulting in exon skipping and premature termination.
Identified a homozygous point mutation in exon 3 in two patients, leading to a cysteine-to-arginine amino acid substitution.
Established that homozygous CD40 mutations cause an autosomal recessive hyper IgM immunodeficiency that is clinically and immunologically indistinguishable from X-linked CD40L deficiency.

Authors

SFSimona FerrariMedica (Italy)SGSilvia GilianiAzienda Socio Sanitaria Territoriale degli Spedali Civili di Brescia AIAntonella InsalacoBambino Gesù Children's Hospital

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Implication

Genetic analysis demonstrates CD40 gene mutations cause autosomal recessive hyper IgM syndrome in three patients, revealing clinical presentation identical to X-linked forms.

Cite This Study

Ferrari et al. (2001) studied this question.

synapsesocial.com/papers/6a75299d1078cf7de2b1fc3c https://doi.org/10.1073/pnas.221456898

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Implication

Genetic analysis demonstrates CD40 gene mutations cause autosomal recessive hyper IgM syndrome in three patients, revealing clinical presentation identical to X-linked forms.

Mutations of CD40 gene cause an autosomal recessive form of immunodeficiency with hyper IgM

Key Points

Discussion

Implication

Cite This Study

Mutations of CD40 gene cause an autosomal recessive form of immunodeficiency with hyper IgM

Key Points

Discussion

Implication

Cite This Study

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