PMID- 16087697
OWN - NLM
STAT- MEDLINE
DCOM- 20060106
LR  - 20171213
IS  - 1460-2725 (Print)
IS  - 1460-2393 (Linking)
VI  - 98
IP  - 10
DP  - 2005 Oct
TI  - Clinical and immunological aspects of HLA class I deficiency.
PG  - 719-27
AB  - Human leukocyte antigen (HLA) class I deficiency is a rare disease with 
      remarkable clinical and biological heterogeneity. The spectrum of possible 
      manifestations extends from the complete absence of symptoms to life-threatening 
      disease conditions. It is usually diagnosed when HLA class I serological typing 
      is unsuccessful; flow cytometric studies then reveal a severe reduction in the 
      cell surface expression of HLA class I molecules (90-99% reduction compared to 
      normal cells). In most cases to date, this low expression is due to a homozygous 
      inactivating mutation in one of the two subunits of the transporter associated 
      with antigen processing (TAP), critically involved in the peptide loading of HLA 
      class I molecules. Although asymptomatic cases have been described, TAP 
      deficiencies are usually characterized by chronic bacterial infections of the 
      upper and lower airways, evolving to bronchiectasis, and in half of the cases, 
      also skin ulcers with features of a chronic granulomatous inflammation. Despite 
      the defect in HLA class-I-mediated presentation of viral antigens to cytotoxic T 
      cells, the patients do not suffer from severe viral infections, presumably 
      because of other efficient antiviral defence mechanisms such as antibodies, 
      non-HLA-class-I-restricted cytotoxic effector cells and CD8+ T-cell responses to 
      TAP-independent antigens. Treatment is at present exclusively symptomatic, and 
      should particularly focus on the prevention of bronchiectasis, which requires 
      early detection.
FAU - Zimmer, J
AU  - Zimmer J
AD  - Laboratoire d'Immunogenetique-Allergologie, CRP-Sante, 84 Val Fleuri, L-1526 
      Luxembourg, France. jacques.zimmer@crp-sante.lu
FAU - Andres, E
AU  - Andres E
FAU - Donato, L
AU  - Donato L
FAU - Hanau, D
AU  - Hanau D
FAU - Hentges, F
AU  - Hentges F
FAU - de la Salle, H
AU  - de la Salle H
LA  - eng
PT  - Journal Article
PT  - Review
DEP - 20050808
PL  - England
TA  - QJM
JT  - QJM : monthly journal of the Association of Physicians
JID - 9438285
RN  - 0 (ATP-Binding Cassette Transporters)
RN  - 0 (Histocompatibility Antigens Class I)
SB  - IM
MH  - ATP-Binding Cassette Transporters/blood/immunology
MH  - Diagnosis, Differential
MH  - Histocompatibility Antigens Class I/blood/*immunology
MH  - Humans
MH  - Immunologic Deficiency Syndromes/diagnosis/*immunology/therapy
RF  - 40
EDAT- 2005/08/10 09:00
MHDA- 2006/01/07 09:00
CRDT- 2005/08/10 09:00
PHST- 2005/08/10 09:00 [pubmed]
PHST- 2006/01/07 09:00 [medline]
PHST- 2005/08/10 09:00 [entrez]
AID - hci112 [pii]
AID - 10.1093/qjmed/hci112 [doi]
PST - ppublish
SO  - QJM. 2005 Oct;98(10):719-27. doi: 10.1093/qjmed/hci112. Epub 2005 Aug 8.