PMID- 12173302
OWN - NLM
STAT- MEDLINE
DCOM- 20020828
LR  - 20231213
IS  - 1521-6616 (Print)
IS  - 1521-6616 (Linking)
VI  - 103
IP  - 3 Pt 1
DP  - 2002 Jun
TI  - Distinct clinical phenotype and immunoreactivity in Japanese siblings with 
      autoimmune polyglandular syndrome type 1 (APS-1) associated with compound 
      heterozygous novel AIRE gene mutations.
PG  - 277-83
AB  - We herein report on two Japanese siblings with autoimmune polyglandular syndrome 
      type 1 (APS-1). The brother, who expressed a characteristic phenotype of APS-1, 
      had developed severe mucocutaneous candidiasis in early infancy and thereafter 
      developed hypoparathyroidism and Addison's disease, along with a severe 
      deterioration of his immunologic function. In contrast, the 44-year-old sister, 
      who showed a noncharacteristic phenotype of APS-1, developed insulin-dependent 
      diabetes with high anti-glutamic acid decarboxylase antibody, mild nail 
      candidiasis, and autoimmune hepatitis with intact immunoreactivity. She had three 
      susceptible human leukocyte antigen (HLA) loci for type 1 autoimmune diabetes. 
      The expression of T cell receptor (TCR)V beta 5.1 increased in both patients, 
      while the brother showed a widely suppressed expression of many TCRV beta 
      families. Both individuals possessed compound heterozygous novel autoimmune 
      regulator (AIRE) gene mutations (L29P and IVS9-1G > C). The same AIRE gene 
      mutations can thus be associated with characteristic and noncharacteristic 
      phenotypes of APS-1, and HLA may possibly influence the phenotype of APS-1.
FAU - Kogawa, Kazuhiko
AU  - Kogawa K
AD  - Department of Medicine and Biosystemic Science, Kyushu University Graduate School 
      of Medical Sciences, Japan.
FAU - Kudoh, Jun
AU  - Kudoh J
FAU - Nagafuchi, Seiho
AU  - Nagafuchi S
FAU - Ohga, Shouichi
AU  - Ohga S
FAU - Katsuta, Hitoshi
AU  - Katsuta H
FAU - Ishibashi, Hiromi
AU  - Ishibashi H
FAU - Harada, Mine
AU  - Harada M
FAU - Hara, Toshiro
AU  - Hara T
FAU - Shimizu, Nobuyoshi
AU  - Shimizu N
LA  - eng
PT  - Case Reports
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - United States
TA  - Clin Immunol
JT  - Clinical immunology (Orlando, Fla.)
JID - 100883537
RN  - 0 (Transcription Factors)
SB  - IM
MH  - Addison Disease/genetics/immunology/pathology
MH  - Adult
MH  - Candidiasis, Chronic Mucocutaneous/genetics/immunology/pathology
MH  - Diabetes Mellitus, Type 1/genetics/immunology/pathology
MH  - Fatal Outcome
MH  - Female
MH  - Flow Cytometry
MH  - Humans
MH  - Japan
MH  - Lymphocyte Culture Test, Mixed
MH  - Male
MH  - *Mutation/genetics/immunology
MH  - Nuclear Family
MH  - Pedigree
MH  - Phenotype
MH  - Polyendocrinopathies, Autoimmune/genetics/*immunology/pathology
MH  - Polymerase Chain Reaction
MH  - Transcription Factors/*genetics/immunology
MH  - AIRE Protein
EDAT- 2002/08/14 10:00
MHDA- 2002/08/29 10:01
CRDT- 2002/08/14 10:00
PHST- 2002/08/14 10:00 [pubmed]
PHST- 2002/08/29 10:01 [medline]
PHST- 2002/08/14 10:00 [entrez]
AID - 10.1006/clim.2002.5208 [doi]
PST - ppublish
SO  - Clin Immunol. 2002 Jun;103(3 Pt 1):277-83. doi: 10.1006/clim.2002.5208.