PMID- 22071465
OWN - NLM
STAT- MEDLINE
DCOM- 20120712
LR  - 20211021
IS  - 1720-8386 (Electronic)
IS  - 0391-4097 (Linking)
VI  - 35
IP  - 1
DP  - 2012 Jan
TI  - High intrafamilial variability in autoimmune 
      polyendocrinopathy-candidiasis-ectodermal dystrophy: a case study.
PG  - 77-81
LID - 10.3275/8055 [doi]
AB  - INTRODUCTION: Autoimmune polyendocrinopathy- candidiasis-ectodermal-dystrophy 
      syndrome (APECED) is a monogenic disease whose phenotype may reveal wide 
      heterogeneity. The reasons of this variability still remain obscure. PATIENTS AND 
      METHODS: Two APECED siblings with identical genotype and extremely different 
      phenotype were compared with regard to exposure to infectious triggers, 
      autoantibodies' profile, mechanisms of peripheral tolerance, and human leukocyte 
      antigen (HLA) haplotype. The following infectious markers were evaluated: 
      rubella, Epstein Barr virus, cytomegalovirus, toxoplasma, varicella zoster virus, 
      parvovirus B19, herpes simplex virus, and parainfluenza virus. APECED-related 
      autoantibodies were detected by indirect immunofluorescence or complement 
      fixation or enzyme- linked immunosorbent assay or radioimmunoassay. Resistance to 
      Fas-induced apoptosis was evaluated on peripheral blood mononuclear cells (PBMC) 
      activated with phytohemoagglutinin, the number of TCD4+CD25+ regulatory cells 
      (Treg) was evaluated through flow-cytometry and natural killer (NK) activity 
      through Wallac method. Perforin (PRF1) was amplified by PCR and sequenced. 
      RESULTS: No difference was observed between the siblings in common infectious 
      triggers, extent of Fas-induced apoptosis, NK-cell activity and PRF1 sequence, 
      the number of Tregs and HLA haplotypes. CONCLUSION: Although APECED is a 
      monogenic disease, its expressivity may be extremely different even in the same 
      family. This variability cannot be explained by common triggering infectious 
      agents or functional alterations of mechanisms governing peripheral tolerance.
FAU - Capalbo, D
AU  - Capalbo D
AD  - Department of Pediatrics, Federico II University, Naples, Italy.
FAU - Fusco, A
AU  - Fusco A
FAU - Aloj, G
AU  - Aloj G
FAU - Improda, N
AU  - Improda N
FAU - Vitiello, L
AU  - Vitiello L
FAU - Dianzani, U
AU  - Dianzani U
FAU - Betterle, C
AU  - Betterle C
FAU - Salerno, M
AU  - Salerno M
FAU - Pignata, C
AU  - Pignata C
LA  - eng
PT  - Case Reports
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
DEP - 20111107
PL  - Italy
TA  - J Endocrinol Invest
JT  - Journal of endocrinological investigation
JID - 7806594
RN  - 0 (Autoantibodies)
RN  - Autoimmune polyendocrinopathy syndrome, type 1
SB  - IM
MH  - Autoantibodies/immunology
MH  - Candidiasis/*genetics/*immunology
MH  - Child, Preschool
MH  - Female
MH  - Fluorescent Antibody Technique, Indirect
MH  - *Genetic Predisposition to Disease
MH  - Humans
MH  - Leukocytes, Mononuclear/immunology
MH  - Male
MH  - Peripheral Tolerance/genetics/*immunology
MH  - Phenotype
MH  - Polyendocrinopathies, Autoimmune/*genetics/*immunology
MH  - Radioimmunoassay
MH  - Siblings
EDAT- 2011/11/11 06:00
MHDA- 2012/07/13 06:00
CRDT- 2011/11/11 06:00
PHST- 2011/11/11 06:00 [entrez]
PHST- 2011/11/11 06:00 [pubmed]
PHST- 2012/07/13 06:00 [medline]
AID - 8055 [pii]
AID - 10.3275/8055 [doi]
PST - ppublish
SO  - J Endocrinol Invest. 2012 Jan;35(1):77-81. doi: 10.3275/8055. Epub 2011 Nov 7.