1- (A) For each of the following 3 immunodeficiency diseases (a, b &c) briefly d
ID: 175634 • Letter: 1
Question
1-
(A) For each of the following 3 immunodeficiency diseases (a, b &c) briefly describe its immune disorder and the genetic defect that results in the diseases. Also, briefly outline an immunoassay helpful for its diagnosis.
(a) DiGeorge syndrome
(b) Bruton’s agammaglobulinemia
(c) Chronic granulomatous disease
(B) There are few types of severe combined immune deficiencies or SCID (caused by different genetic defects) including X-linked severe combined immune deficiency (SCID-X1). Briefly describe the rationale and protocol for gene therapy for X-linked severe combined immune deficiency (SCID-X1). Your description should include the information on the target gene and its role in lymphocyte development.
2-(A) What is the main purpose of bone marrow transplantation? Why is graft versus host (GVH) disease a concern in bone marrow transplantation? How could GVH be prevented? (1- page limit)
(B) High polymorphism in MHC (HLA in humans) is important in the human species’ protective immune response (see P. 121), but poses a major challenge in donor-recipient matching during organ/tissue transplantation. It is estimated that enormous number of T cell clones in an individual--up to 5%--could be activated in response to foreign HLA molecules (alloantigens of another individual). Briefly, discuss the mechanisms of HLA alloantigen recognition by T cells which could contribute to this unusually high-response phenomenon.
3-
(A)Briefly, discuss the “cancer immunoediting hypothesis”. (0.5 page limit)
(B) Cancer immunotherapy is considered a major breakthrough in translation medicine (i.e. from lab discovery to clinical application). Briefly, describe the immunological principles and applications of the following 4 cancer immunotherapeutics:
(1) HERCEPTIN; (2) YERVOY-OPDIVO combination (3) PROVENGE; and
(4) Chimeric Antigen Receptor (bearing) T cells (e.g. anti-leukemia CAR-T-Cell designed by Carl June).
Explanation / Answer
Answer 1.
(a) Di George syndrome: This syndrome occurs by deletion of sub-band 2 on band 1 of region 1 of long arm of chromosome no. 22. Such patients do not have the thymus gland; as a result T-cell response is also absent. In this, morphological changes occur in brain; which has deleterious effect on memory, facial features. There can be loss of kidney and heart functions also in this disease.
Immunological test for diagnosis: FISH
(b) Bruton’s agamma-globulinemia: This is X-linked inherited disease. It occurs due to mutation in Bruton Tyrosine kinase (BTK) present in the long arm of X-chromosome. In such patients, B lymphocytes do not mature. So, antibody production is not there. The lymphoid cells like Peyer patches, spleen, tonsils etc. are also poorly developed.
Immunological test for diagnosis: single strand confirmation polymorphism will confirm the absence of BTK RNA.
(c) Chronic granulomatous disease: People having this disease have defective NADPH oxidase. As a result, immune cells of these patients are unable to form reactive oxygen compound; so, pathogens ingested via food will not be killed.
Immunological test for diagnosis: Nitro-blue tetrazolium test.
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