Clinical phenotypes of autoimmune polyendocrinopathycandidiasis-ectodermal dystrophy seen in the Northern Ireland paediatric population over the last 30 years

Ulster Medical Journal

Volumn 81, Issue 3, 2012, Pages 118-122

  Millar, Sarinda ^a   Carson, Dennis ^a  

^a ROYAL BELFAST HOSPITAL FOR SICK CHILDREN   (United Kingdom)

Author keywords

Adrenal insufficiency; APECED; c.964del13; Candidiasis; Hypoparathyroidism

Indexed keywords

AUTOIMMUNE REGULATOR PROTEIN; DNA; TRANSCRIPTION FACTOR;

CASE REPORT; CHILD; DIFFERENTIAL DIAGNOSIS; FEMALE; GENETICS; HOMOZYGOTE; HUMAN; INFANT; MALE; METABOLISM; MUTATION; NUCLEOTIDE SEQUENCE; PHENOTYPE; POLYENDOCRINOPATHIES, AUTOIMMUNE; PRESCHOOL CHILD; UNITED KINGDOM;

CHILD; CHILD, PRESCHOOL; DIAGNOSIS, DIFFERENTIAL; DNA; DNA MUTATIONAL ANALYSIS; FEMALE; HOMOZYGOTE; HUMANS; INFANT; MALE; MUTATION; NORTHERN IRELAND; PHENOTYPE; POLYENDOCRINOPATHIES, AUTOIMMUNE; TRANSCRIPTION FACTORS;

EID: 84868328888     PISSN: 00416193     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Review

References (13)

1. Neufeld M, Maclaren NK, Blizzard RM. Two types of autoimmune Addison's disease associated with different polyglandular autoimmune (PGA) syndromes. Medicine (Baltimore).1981; 60(5): 355-62
2. Ahonen P, Myllarnierni S, Silpila I, Perheentupa J. Clinical variation of autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) in a series of 68 patients. N Engl J Med. 1990; 322(26):1829-36
3. Zlotogora J, Shapiro MS. Polyglandular autoimmune syndrome type 1 among Iranian Jews. J Med Genet. 1992; 29(11):824-6
4. Betterle C, Greggio NA, Volpato M. Clinical review 93: autoimmune polyglandular syndrome type 1. J Clin Endocrinol Metab. 1998; 83(4): 1049-55
5. Myhre AG, Halonen M, Eskelin P, Ekwall O, Hedstrand H, Rorsman F, et al. Autoimmune polyendocrine syndrome type 1 (APS 1) in Norway. Clin Endocrinol (Oxf). 2001; 54(2): 211-7
6. Perheentupa J. APS-1/APECED: the clinical disease and therapy. Endocrinol Metab Clin North Am. 2002; 31(2): 295-320
7. Betterle C, Dal Pra C, Mantero F, Zanchetta R. Autoimmune adrenal insufficiency and autoimmune polyendocrine syndromes: autoantibodies, autoantigens, and their applicability in diagnosis and disease prediction. Endocr Rev. 2002; 23(3):327-64
8. Pearce SH, Cheetham TD. Autoimmune polyendocrinopathy syndrome type 1: treat with kid gloves. Clin Endocrinol (Oxf). 2001; 54(4): 433-5
9. Owen CJ, Cheetham TD. Diagnosis and management of polyendocrinopathy syndromes. Endocrinol Metab Clin North Am. 2009; 38(2): 419-36
10. Bereket A, Lowenheim M, Blethen SL, Kane P, Wilson TA. Intestinal lymphangiectasia in a patient with autoimmune polyglandular disease type I and steatorrhea. J Clin Endocrinol Metab. 1995; 80(3): 933-5
11. Browne SK, Holland SM. Anti-cytokine autoantibodies explain some chronic mucocutaneous candidiasis. Immunol Cell Biol. 2010; 88(8): 614-5
12. Puel A, Doffinger R, Natividad A, Chrabieh M, Barcenas-Morales G, Picard C et al. Autoantibodies against IL-17A, IL-17F, and IL-22 in patients with chronic mucocutaneous candidiasis and autoimmune polyendocrine syndrome type I. J Exp Med. 2010; 207(2): 291-297.
13. Kisand K, Boe Wolff AS, Podkrajsek KT, Tserel L, Link M, Kisand KV et al. Chronic mucocutaneous candidiasis in APECED or thymoma patients correlates with autoimmunity to Th17-associated cytokines. J Exp Med. 2010; 207(2): 299-308.