Complete genomic organization of the human JAK3 gene and mutation analysis in severe combined immunodeficiency by single-strand conformation polymorphism

Richard F. Schumacher, Patrizia Mella, Raffaele Badolato, Maurilia Fiorini, Gianfranco Savoldi, Silvia Giliani, Anna Villa, Fabio Candotti, Andrea Tampalini, John J. O'Shea, Luigi D. Notarangelo

Research output: Contribution to journalArticlepeer-review

Abstract

JAK3 deficiency in humans results in autosomal recessive T-B+ severe combined immunodeficiency disease (SCID), a severe immunodeficiency that can only be cured by bone marrow transplantation. We unraveled the complete organization of the human JAK3 gene, which includes 23 exons. This information allowed us to set up a molecular screening test that enabled us to diagnose JAK3 deficiency in 14 patients from 12 unrelated families with T-B+ SCID. In order to define the mutations, we used a nonradioactive single-strand conformation polymorphism (SSCP)/heteroduplex (HD) assay based on exon-specific polymerase chain reaction (PCR). In this cohort of patients, 15 independent JAK3 gene mutations have been identified, including 7 that have not been described previously. Mutation analysis information was used for genetic counseling and prenatal diagnosis.

Original languageEnglish
Pages (from-to)73-79
Number of pages7
JournalHuman Genetics
Volume106
Issue number1
DOIs
Publication statusPublished - 2000

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics

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