An 8-year-old boy with autoimmune hepatitis and Candida onychosis as the first symptoms of autoimmune polyglandular syndrome (APS1): Identification of a new homozygous mutation in the autoimmune regulator gene (aire)

European Journal of Pediatrics

Volumn 167, Issue 8, 2008, Pages 949-953

  Lintas, Carla ^a   Cappa, Marco ^a   Comparcola, Donatella ^a   Nobili, Valerio ^a   Fierabracci, Alessandra ^a  

^a BAMBINO GESÙ CHILDREN S HOSPITAL   (Italy)

Author keywords

Autoimmune polyendocrinopathy; Autosomal recessive; Chronic active autoimmune hepatitis; Mutation

Indexed keywords

ADDISON DISEASE; ANAMNESIS; ARTICLE; AUTOIMMUNE HEPATITIS; AUTOIMMUNE POLYENDOCRINOPATHY CANDIDIASIS ECTODERMAL DYSTROPHY; CANDIDA ALBICANS; CASE REPORT; DIABETES INSIPIDUS; GENE MUTATION; HOMOZYGOSITY; HUMAN; HYPERGAMMAGLOBULINEMIA; IMMUNOSUPPRESSIVE TREATMENT; LIVER BIOPSY; MALE; PRIORITY JOURNAL; SCHOOL CHILD;

ADDISON DISEASE; CANDIDIASIS, CHRONIC MUCOCUTANEOUS; CHILD; DIABETES INSIPIDUS, NEUROGENIC; HEPATITIS, AUTOIMMUNE; HOMOZYGOTE; HUMANS; HYPERGAMMAGLOBULINEMIA; MALE; MUTATION; NAIL DISEASES; POLYENDOCRINOPATHIES, AUTOIMMUNE; TRANSAMINASES; TRANSCRIPTION FACTORS;

EID: 46149114371     PISSN: 03406199     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00431-007-0599-4     Document Type: Article

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