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MHC class II

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Afzal Ahrorov

on 20 September 2013

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Transcript of MHC class II

Group 3
MHC class II Deficiency
MHC class II genes
MHC class II
Extracellular Peptides
DNA sequencing test
Various mechanisms
Immune System
Virus infection
Phagocytic event
Present on APC
Longer peptide (15-24 aa)
MHC class II deficiency
MHC class II deficiency
Case study #3
Tests and Results
PHA test - Normal
Serum Ig levels (Low IgM, IgG, IgA)
WBC count (Low CD4, but normal CD8 T cells)
Normal CD8 and PHA test ruled out SCID
HLA typing (for bone marrow transplant)
EBV+flourescent-tagged ab=no expression of MHC class II (HLA-DR, DQ)
Busulfan 6 hrs/4 days
Bone marrow (T cell depleted)
Graft-versus-Host Disease?
MHC class II Deficiency
Immune Function RESTORED
Thank you
Boss, M. J. and E.P. Jensen. 2003. Transcriptional regulation of the MHC class II antigen presentation pathway. Current Opinion in Immunology. 15: 105-111.
Cossu, F. 2010. Genetics of SCID. Italian Journal of Pediatrics. 36: 76-93
Boss, M.J. 1999. A common set of factors control the expression of the MHC class II, invariant chain, and HLA-DM genes. Microbes and Infection. 1: 847-853.
Ben-Mustapha, I., K. Ben-Farhat, N. Guirat-Dhouib, E. Dhemaied, B. Larguèche, M. Ben-Ali, J. Chemli, J. Bouguila, L. Ben-Mansour, F. Mellouli, M. Khemiri, M. Béjaoui, M.R. Barbouche. 2013. Clinical, immunological and genetic findings of a large tunisian series of major histocompatibility complex class II deficiency patients. J Clin Immunol. DOI 10.1007/s10875-013-9863-8
Masternak, K., E. Barras, M. Zufferey, B. Conrad, G. Corthals, R. Aebersold, J.C. Sanchez, D.F. Hochstrasser, B. Mach, W. Reith. 1998. A gene encoding a novel RFX-associated transactivator is mutated in the majority of MHC class II deficiency patients. Nature Genetics. 20: 273-277
Steimle, V. et al. 1995. A novel DNA binding regulatory factor is mutated in primary MHC class II deficiency (Bare Lymphocyte Syndrome). Genes Dev. 9: 1021–1032.
Durand, B. et al. 1997. RFXAP, a novel subunit of the RFX DNA binding complex is mutated in MHC class II deficiency. EMBO J. 16, 1045–1055.
Villard, J. et al. 1997. Mutation of RFXAP, a regulator of MHC class II genes, in primary MHC class II deficiency. N. Engl. J. Med. 337, 748–753.
Slome, L.G-L., J.M. Walderburg, M. Krawczyk, L.A. Otten, T. Suter, A. Fontana, H. Acha-Orbea, W. Reith. 2004. Specificity and expression of CIITA, the master regulator of MHC class II genes. Eur. J. Immunol.34: 1513-1525.
Martin, B. K., K. C. Chin, J. C. Olsen, C. A. Skinner, A. Dey, K. Ozato and J. P. Ting. 1997. Induction of MHC class I expression by the MHC class II transactivator CIITA. Immunity. 6: 591–600.
Neefjes, J., M. L. M. Jongsma, P. Paul and O. Bakke. 2011. Towards a systems understanding of MHC class I and MHC class II antigen presentation. Nat Rev Immunol.11: 823-836.
www.idf.org (International Diabetes Federation)
Helen Burns: Medical History
Second child
Thrived until 6 month of age
Pneumonia, cough and fever
Infection of Pneumocystis carinii
Full transcript