Maternal mosaicism for a novel interleukin-2 receptor γ-chain mutation causing X-linked severe combined immunodeficiency in a Navajo kindred

Journal of Clinical Immunology

Volumn 17, Issue 1, 1997, Pages 29-33

  O'Marcaigh, Aengus S ^a   Puck, Jennifer M ^b   Pepper, Amy E ^b   De Santes, Kenneth ^a   Cowan, Morton J ^a  

^a UNIVERSITY OF CALIFORNIA   (United States)

^b NATIONAL HUMAN GENOME RESEARCH INSTITUTE   (United States)

Author keywords

bone marrow transplantation; cytokine receptor; genetics; severe combined immunodeficiency; X linked inheritance

Indexed keywords

INTERLEUKIN 2 RECEPTOR;

ARTICLE; BONE MARROW TRANSPLANTATION; CASE REPORT; COMBINED IMMUNODEFICIENCY; HUMAN; INDIAN; INFANT; MALE; MOSAICISM; MUTATION; PRIORITY JOURNAL; X CHROMOSOME LINKAGE;

FEMALE; HUMANS; INDIANS, NORTH AMERICAN; INFANT; INFANT, NEWBORN; MALE; MOSAICISM; MUTATION; PEDIGREE; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; RECEPTORS, INTERLEUKIN-2; SEVERE COMBINED IMMUNODEFICIENCY; X CHROMOSOME;

EID: 0031052589     PISSN: 02719142     EISSN: None     Source Type: Journal    
DOI: 10.1023/A:1027332327827     Document Type: Article

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