PMID- 14595706
OWN - NLM
STAT- MEDLINE
DCOM- 20031202
LR  - 20111117
IS  - 0098-1532 (Print)
IS  - 0098-1532 (Linking)
VI  - 41
IP  - 6
DP  - 2003 Dec
TI  - Langerhans cell histiocytosis patients have HLA Cw7 and DR4 types associated with 
      specific clinical presentations and no increased frequency in polymorphisms of 
      the tumor necrosis factor alpha promoter.
PG  - 502-7
AB  - BACKGROUND: Current theory on the etiology of Langerhans cell histiocytosis 
      (LCH), formerly Histiocytosis-X, is that abnormality(ies) of the immune system 
      are responsible for dysregulation of Langerhans cells (LC) in patients' lesions. 
      Among the known abnormalities in LCH patients are increased amounts of tumor 
      necrosis factor alpha (TNF-alpha) and other cytokines in the lesions. PROCEDURE: 
      We investigated the human leukocyte antigen (HLA) phenotypes of 29 patients and 
      37 healthy family members to determine if any haplotypes segregate with the 
      presence or locations of the disease. The lymphocyte subsets for 22 patients and 
      11 family members were also determined. RESULTS: Patients with single bone, 
      multiple bone, or multi-system LCH had different relative proportions of HLA 
      types. Patients presenting with single bone disease had an especially high 
      frequency of the DR4 type. In this patient group, every Caucasian patient had 
      either Cw7 or DR4. Lymphopenia was documented in patients who had been off 
      therapy as well as those who only had surgical curetage of their lesions. Family 
      members also had low numbers of T lymphocytes. There were fewer mutations of the 
      TNF-alpha promoter in patients than in the general population. CONCLUSIONS: 
      Although there is an increased percentage of LCH patients with DR4 and/or Cw7 
      there was also an increased prevalence of this antigen as well as lymphopenia 
      among unaffected family members. Additional genetic and/or environmental factors 
      are necessary to explain this association. TNF-alpha promoter mutations are not 
      responsible for the increased production of this cytokine.
CI  - Copyright 2003 Wiley-Liss, Inc.
FAU - McClain, Kenneth L
AU  - McClain KL
AD  - Baylor College of Medicine and Texas Children's Cancer Center/Hematology Service, 
      Houston, Texas 77030, USA. kmcclain@txccc.org
FAU - Laud, Purnima
AU  - Laud P
FAU - Wu, Wen-Shu
AU  - Wu WS
FAU - Pollack, Marilyn S
AU  - Pollack MS
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - United States
TA  - Med Pediatr Oncol
JT  - Medical and pediatric oncology
JID - 7506654
RN  - 0 (DNA Primers)
RN  - 0 (HLA-C Antigens)
RN  - 0 (HLA-C*70 antigen)
RN  - 0 (HLA-DR4 Antigen)
RN  - 0 (Tumor Necrosis Factor-alpha)
SB  - IM
MH  - Adult
MH  - Child
MH  - DNA Mutational Analysis
MH  - DNA Primers
MH  - Female
MH  - HLA-C Antigens/analysis/*biosynthesis
MH  - HLA-DR4 Antigen/analysis/*biosynthesis
MH  - Histiocytosis, Langerhans-Cell/*genetics/*immunology/pathology
MH  - Humans
MH  - Lymphocyte Subsets
MH  - Male
MH  - Pedigree
MH  - Phenotype
MH  - Polymerase Chain Reaction
MH  - *Polymorphism, Genetic
MH  - Promoter Regions, Genetic/*genetics
MH  - Tumor Necrosis Factor-alpha/*genetics
EDAT- 2003/11/05 05:00
MHDA- 2003/12/03 05:00
CRDT- 2003/11/05 05:00
PHST- 2003/11/05 05:00 [pubmed]
PHST- 2003/12/03 05:00 [medline]
PHST- 2003/11/05 05:00 [entrez]
AID - 10.1002/mpo.10366 [doi]
PST - ppublish
SO  - Med Pediatr Oncol. 2003 Dec;41(6):502-7. doi: 10.1002/mpo.10366.