IMMUNODEFICIENCY.pptx
•Download as PPTX, PDF•
0 likes•2 views
This document discusses various immunodeficiency disorders categorized as either primary or secondary immunodeficiencies. It focuses on defects in leukocyte function, including three types of leukocyte adhesion deficiency (LAD I, II, III) characterized by reduced integrins and other cell surface markers. One disorder discussed is chronic granulomatous disease, an X-linked disease caused by mutations in the CYBB gene that result in defects in the respiratory burst pathway. Another is Chediak-Higashi syndrome, an autosomal recessive condition caused by mutations in the CHS1 gene and LYST defects, leading to abnormalities in lysosomal enzyme structure/function and granule formation.
Recommended
More Related Content
Similar to IMMUNODEFICIENCY.pptx
Similar to IMMUNODEFICIENCY.pptx (20)
More from Manjula N
More from Manjula N (20)
Recently uploaded
Recently uploaded (20)
IMMUNODEFICIENCY.pptx
- 1. DISORDERS OF IMMUNE SYSTEM IMMUNODEFIC IENCY PRIMARY Defects in Innate Immunity Defects in Adaptive Immunity SECONDARY Defects in Leukocyte Function Defects in Complement System Defect in B cell Defect in T cell Leukocyte adhesion deficiency (LAD) I, II, III X-Linked Agammaglobulinemia DiGeorge Syndrome
- 2. DEFECT IN LEUKOCYTE FUNCTION DISORDER OF PHAGOCYTE ADHESION AND CHEMOTAXIS Leukocyte adhesion deficiency (LAD) I Leukocyte adhesion deficiency (LAD) II Leukocyte adhesion deficiency (LAD) III DISORDER OF RESPIRATORY BURST PATHWAY DEFECT IN STRUCTURE AND FUNCTION OF LYSOSOMAL ENZYME CHEDIAK HIGASHI SYNDROME Chronic Granulomatous Disease
- 3. LAD I Autosomal recessive Absence of all 3 beta integrin Reduced CD18 Delayed umblical cord separation Periodontitis LAD II Impaired E – selectin Normal CD 18 and absent CD 15 Defective FUCOSE metabolism Common among BOMBAY BLOOD group SLC35C1 gene sequencing LAD III Autosomal recessive Defcet in KINDLIN 3 Normal CD 18 and CD 15 FERMT3 gene sequencing
- 4. DISORDER OF RESPIRATORY BURST PATHWAY Nitroblue tetrazolium test Semiquantitative assay Dihydro rhodamine 123 - flowcytometry X linked disease NADPH oxidase deficiency Mutation in CYBB gene Chronic granulom atous disease
- 5. CHEDIAK HIGASHI SYNDROME CHS1 gene mutation LYST defect Occulocutaneous albinism Recurrent infection and easy bruising Defect in primary granule formation and platelet ADP release