Novel homozygous AIRE mutation in a German patient with severe APECED

Journal of Pediatric Endocrinology and Metabolism

Volumn 21, Issue 10, 2008, Pages 1003-1009

  von Schnurbein, Julia ^a   Lahr, G ^a   Posovszky, C ^a   Debatin, K M ^a   Wabitsch, M ^a  

^a UNIVERSITY OF ULM   (Germany)

Author keywords

AIRE; APECED; CTLA4; Enterochromaffin cells; Multiple sclerosis; PTPN22

Indexed keywords

ADENOSINE; ANTINUCLEAR ANTIBODY; AUTOIMMUNE REGULATOR PROTEIN; AZATHIOPRINE; CALCITRIOL; CALCIUM; CYTOTOXIC T LYMPHOCYTE ANTIGEN 4; FLUDROCORTISONE; GENOMIC DNA; GUANOSINE; HLA DR ANTIGEN; HYDROCHLOROTHIAZIDE; HYDROCORTISONE; METHOTREXATE; NON RECEPTOR PROTEIN TYROSINE PHOSPHATASE 22; PREDNISOLONE; PROTEIN TYROSINE PHOSPHATASE; RHEUMATOID FACTOR; THYROXINE; VITAMIN K GROUP;

ADD ON THERAPY; ADDISON DISEASE; ADRENAL INSUFFICIENCY; AMINOTRANSFERASE BLOOD LEVEL; ARTICLE; AUTOIMMUNE HEPATITIS; AUTOIMMUNE POLYENDOCRINOPATHY CANDIDIASIS ECTODERMAL DYSTROPHY; BLOOD CLOTTING DISORDER; CASE REPORT; CHILD; CHRONIC DIARRHEA; CLINICAL FEATURE; DISEASE ASSOCIATION; DISEASE SEVERITY; DRUG WITHDRAWAL; EXON; FAMILY HISTORY; FEMALE; FRAMESHIFT MUTATION; GENE MUTATION; GENETIC CONSERVATION; HEPATITIS; HOMOZYGOSITY; HUMAN; HYPOPARATHYROIDISM; HYPOTHYROIDISM; INSULIN DEPENDENT DIABETES MELLITUS; LIVER BIOPSY; MUCOCUTANEOUS CANDIDIASIS; MULTIPLE SCLEROSIS; MYCOSIS; NUCLEOTIDE SEQUENCE; SIDE EFFECT; VITILIGO;

EID: 57749108414     PISSN: 0334018X     EISSN: None     Source Type: Journal    
DOI: 10.1515/JPEM.2008.21.10.1003     Document Type: Article

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