Work

Retrospective diagnosis of X-linked hyper-IgM syndrome in a family with multiple deaths of affected males

Year: 2007

Type: article

Abstract: All males in two generations of a Hungarian family died of interstitial pneumonia. History and records suggested X-linked hyper-IgM syndrome (X-HIGM). DNA sequencing of a female carrier revealed a c. 654C->A transversion of the CD40L gene that predicts premature termination of CD40L synthesis. This report points to the importance of early carrier detection and genetic counseling in families with X-linked primary immunodeficiency diseases. We propose that the c.654C->A sequence variant may associate with severe X-HIGM phenotype.

Source: Haematologica

DOI: 10.3324/haematol.10172

Authors: M. Erdos, K. Alapi, L. Marodi

Institution: University of Debrecen

Language: English

Topic: Immunodeficiency and Autoimmune Disorders

Subfield: Immunology

Field: Immunology and Microbiology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: gold

Estimated APC paid: $2,157