PMID- 7699327
OWN - NLM
STAT- MEDLINE
DCOM- 19950502
LR  - 20190508
IS  - 0022-1007 (Print)
IS  - 1540-9538 (Electronic)
IS  - 0022-1007 (Linking)
VI  - 181
IP  - 4
DP  - 1995 Apr 1
TI  - Molecular characterization of major histocompatibility complex class II gene 
      expression and demonstration of antigen-specific T cell response indicate a new 
      phenotype in class II-deficient patients.
PG  - 1411-23
AB  - Major histocompatibility complex (MHC) class II deficiency is an inherited 
      autosomal recessive combined immunodeficiency. The disease is known as bare 
      lymphocyte syndrome (BLS). BLS is characterized by a lack of constitutive MHC 
      class II expression on macrophages and B cells as well as a lack of induced MHC 
      class II expression on cells other than professional antigen-presenting cells 
      (APCs) due to the absence of mRNA and protein of the human leukocyte antigen 
      (HLA) class II molecules, designated HLA-DR, -DQ, and -DP. The defect in gene 
      expression is located at the transcriptional level and affects all class II genes 
      simultaneously. Here we have analyzed transcription and protein expression of 
      class II antigens in Epstein-Barr virus (EBV)-transformed B lymphoblastoid cell 
      lines and mononuclear cells (MNCs) of twin brothers. Whereas flow cytometric 
      analysis failed to detect class II antigens on the cell surface of the patients' 
      EBV-B cells and MNCs, examination of the genes coding for HLA-DR, -DQ, -DP, and 
      the invariant chain (Ii) by reverse transcriptase-polymerase chain reaction 
      amplification resulted in an unusual mRNA pattern in the B cell lines of the 
      patients (HLA-DR alpha +, -DR beta, -DQ alpha +, -DQ beta -, -DP alpha -; -DP 
      beta +, Ii+). In accordance with these findings no HLA-DR beta-specific protein 
      was detected by immunoblotting, whereas low levels of HLA-DR alpha and normal 
      levels of Ii were present. In contrast to EBV-B cells, the MNCs of both patients 
      displayed a residual HLA-DR beta, -DQ beta, and -DP alpha mRNA signal. 
      Furthermore, HLA-DR beta-specific protein was found in addition to HLA-DR alpha 
      by immunoblotting of cell lysates, even though it was clearly decreased as 
      compared with controls. Our results indicate that the defect in class II antigen 
      expression is not necessarily present to the same extent in B cells and cells of 
      other lineages. mRNA levels of HLA-DR beta were found to be enriched in adherent 
      cells within the MNC fraction. Further investigations indicated that the MHC 
      class II expressed is functional in antigen presentation, as the two boys' CD4+ T 
      cells became activated and expressed interleukin-2R after stimulation of 
      peripheral blood mononuclear cell cultures with recall antigen (tetanus toxoid). 
      Furthermore, T cells tested in one of the two patients responded to both MHC 
      class I and II allostimulation, and this response was inhibited by monoclonal 
      antibodies of the respective specificity.(ABSTRACT TRUNCATED AT 400 WORDS)
FAU - Hauber, I
AU  - Hauber I
AD  - Institute of Immunology, University of Vienna, Austria.
FAU - Gulle, H
AU  - Gulle H
FAU - Wolf, H M
AU  - Wolf HM
FAU - Maris, M
AU  - Maris M
FAU - Eggenbauer, H
AU  - Eggenbauer H
FAU - Eibl, M M
AU  - Eibl MM
LA  - eng
PT  - Case Reports
PT  - Comparative Study
PT  - Journal Article
PL  - United States
TA  - J Exp Med
JT  - The Journal of experimental medicine
JID - 2985109R
RN  - 0 (Antibodies, Monoclonal)
RN  - 0 (Cytokines)
RN  - 0 (HLA-D Antigens)
RN  - 0 (RNA, Messenger)
RN  - 0 (Receptors, Interleukin-2)
SB  - IM
GS  - HLA-DP&agr;
GS  - HLA-DP&bgr;
GS  - HLA-DQ&agr;
GS  - HLA-DQ&bgr;
GS  - HLA-DR&agr;
GS  - HLA-DR&bgr;
MH  - Adult
MH  - Antibodies, Monoclonal/immunology
MH  - Antibody Formation
MH  - B-Lymphocytes/immunology/*metabolism
MH  - Base Sequence
MH  - CD4 Lymphocyte Count
MH  - Cell Adhesion
MH  - Cell Line, Transformed
MH  - Cytokines/biosynthesis/genetics
MH  - Diseases in Twins
MH  - Female
MH  - *Gene Expression Regulation
MH  - *Genes, MHC Class II
MH  - HLA-D Antigens/biosynthesis/*genetics
MH  - Herpesvirus 4, Human
MH  - Humans
MH  - Immunization
MH  - Immunologic Memory
MH  - Infant, Newborn
MH  - Leukocytes, Mononuclear/immunology/*metabolism
MH  - Lymphocyte Activation
MH  - Male
MH  - Molecular Sequence Data
MH  - RNA, Messenger/biosynthesis/*genetics
MH  - Receptors, Interleukin-2/biosynthesis/genetics
MH  - Severe Combined Immunodeficiency/genetics/*immunology
MH  - Transcription, Genetic
MH  - Twins, Monozygotic
PMC - PMC2191976
EDAT- 1995/04/01 00:00
MHDA- 1995/04/01 00:01
PMCR- 1995/10/01
CRDT- 1995/04/01 00:00
PHST- 1995/04/01 00:00 [pubmed]
PHST- 1995/04/01 00:01 [medline]
PHST- 1995/04/01 00:00 [entrez]
PHST- 1995/10/01 00:00 [pmc-release]
AID - 95213666 [pii]
AID - 10.1084/jem.181.4.1411 [doi]
PST - ppublish
SO  - J Exp Med. 1995 Apr 1;181(4):1411-23. doi: 10.1084/jem.181.4.1411.