Bre Glynn April 7, 2013 BIOL331 Case Study 8 MHC class II is involved in presenting antigens to CD4 T-cells, and

in the intrathymic maturation of CD4 T-cells (Geha, 45). The presentation of antigen, along with the binding of co-stimulatory factors, activates the T-cell. MHC class II molecules present antigens that are derived from extracellular pathogens, and also present proteins taken up into intracellular vesicles (Geha, 45). MHC class II molecules are heterodimers made up of an alpha and beta chain. The genes encoding the MHC II molecule have been mapped on chromosome 6, and together with MHC I, is known as a HLA antigen. The principle HLA types of the MHC II molecules are HLA-DP, HLA-DQ, and HLADR. The expression of these genes must be highly regulated and coordinated in the organism. Helen Burns developed pneumonia in both lungs and a severe cough. Tracheal aspirations revealed the presence of Pneumocystis jirovecii, which is an opportunistic fungus. Helens peripheral blood mononuclear cells were stimulated with PHA, and yielded a normal T-cell proliferative response (Geha, 47). Her T-cells failed to respond to tetanus toxoid, which implies that there is no memory that has been created in her B-cell antibodies for toxins that Helen was previously vaccinated for. It was found that Helen had low serum levels of IgG, IgA, and IgM. Helen also had an elevated white blood cell count, and her calculated lymphocyte count was also low. Of her lymphocytes, there was a high number of B-cells, and a very low number of CD4 T-cells (Geha, 47). Helen was referred to Childrens Hospital for a possible bone marrow transplant. In order to establish a B-cell line, Helens B-

cells were transformed with Epstein-Barr virus (EBV). The EBV transformed lymphocytes did not express HLA-DQ or HLA-DR, and as a result, Helen was diagnosed MHC class II deficiency. Helen was matched to her brothers HLA type, and was given a bone marrow transplant that restored her immune function. MHC class II deficiency is an autosomal recessive deficiency that is marked by non-specific T-cell response and CD4 T-cell deficiencies. MHC class II molecules instruct the stromal T-cells to activate and differentiate into CD4 T-cells. Little to no CD4 T-cells will activate and differentiate because there is no MHC II to instruct it to do so. The low serum levels of IgG, IgA, and IgM mark a low rate of B-cell development and activation. This low rate of development and activation of B-cell is due to the decrease, or lack of, IL-4 stimulus from T-cells. Also, Helen lacked HLA-DQ and HLA-DR, further defending the diagnosis of MHC II deficiency. Works Cited Geha, R. S., & Notarangelo, L. (2012). Case studies in immunology: A clinical companion. New York: Garland Science.