A novel mutation associated with autoimmune polyendocrinopathy-candidiasis- ectodermal dystrophy [1]

Annals of Allergy, Asthma and Immunology

Volumn 100, Issue 2, 2008, Pages 169-

  Bhui, Ravinder Dennis ^a   Lewis, David B ^b   Nadeau, Kari C ^b  

^a UNIVERSITY OF WESTERN ONTARIO   (Canada)

^b STANFORD UNIVERSITY   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ALANINE; ARGININE; GLYCINE; PERFORIN;

AFRICAN AMERICAN; AIRE GENE; AMINO ACID SEQUENCE; AMINO ACID SUBSTITUTION; AUTOIMMUNE POLYENDOCRINOPATHY CANDIDIASIS ECTODERMAL DYSTROPHY; CASE REPORT; CLINICAL FEATURE; CODON; EXON; GENE; GENE SEQUENCE; GENETIC ANALYSIS; GENETIC POLYMORPHISM; HETEROZYGOTE; HUMAN; LETTER; MALE; MUNC GENE; NATURAL KILLER CELL; PRESCHOOL CHILD; PRF1 GENE; PRIORITY JOURNAL; SEQUENCE ANALYSIS; SYMPTOM;

EID: 39049159838     PISSN: 10811206     EISSN: None     Source Type: Journal    
DOI: 10.1016/S1081-1206(10)60427-9     Document Type: Letter

References (3)

1. Gylling M, Tuomi T, Bjorses P, et al. B-cell autoantibodies, human leukocyte antigen II alleles, and type I diabetes in autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy. J Clin Endocrinol Metab. 2000;85:4434-4440.
2. Halonen M, Eskelin P, Myhre A, et al. AIRE mutations and human leukocyte antigen genotypes as determinants of the autoimmune polyendocrinopathy- candidiasis-ectodermal dystrophy phenotype. J Clin Endocrinol Metab. 2002;87:2568-2574.
3. Arkwright D, Abinun M, Cant A. Autoimmunity in human primary immunodeficiency diseases. Blood. 2002;99(8):2694-2702.