DETECTION OF A NOVEL NONSENSE MUTATION IN THE INTERLEUKIN 2 RECEPTOR γ GENE CAUSING X-LINKED SEVERE COMBINED IMMUNODEFICIENCY

Author:

Cohen Lindsay,Hirschfeld Aaron F.,Junker Anne K.,Davis Jeff,Turvey Stuart E.

Publisher

Elsevier BV

Subject

Pulmonary and Respiratory Medicine,Immunology and Allergy,Immunology

Reference5 articles.

1. Interleukin-2 receptor gamma chain mutation results in X-linked severe combined immunodeficiency in humans;Noguchi;Cell.,1993

2. Mutation analysis of IL2RG in human X-linked severe combined immunodeficiency;Puck;Blood.,1997

3. IL2Rgbase: X-linked SCID Mutation Database. Available at: http://research.nhgri.nih.gov/scid/.

4. Primary immunodeficiency diseases due to defects in lymphocytes;Buckley;N Engl J Med.,2000

5. Hematopoietic stem cell transplantation for severe combined immunodeficiency in the neonatal period leads to superior thymic output and improved survival;Myers;Blood.,2002

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