Iy ID Flashcards
what are primary IDs
group of genetic disorders that affect IS ability to protect body from infections
what do genetic mutations affect in PIDs
different components of IS like t cells, b cells, NKcs, phagocytes, complement proteins
2 e.gs of PIDs
x-linked severe combined immunodeficiency (X-SCID)
Chronic granulomatous diseaase (CGD)
what does IgA play a crucial role in
Mucosal immunity (IS defence against pathogens that enter the body through mucosal surfaces like respiratory and GI tracts)
cause of IgA deficiency
genetics
what can bone marrow not produce in reticular dysgenesis
immune cells like WBCs
inheritance of reticular dysgeneisis
rare genetic condition
autosomal recessive - mutated AK2 gene
what gene mutations cause XLA
BTK - required for development and maturation of b cells (make abs)
what sex is more common to get XLA
young boys
what gene mutation causes X-linked hyper IgM syndrome (XHIM)
CD40L gene mutation - involved in b cell activation
main ab someone with XHIM is deficient in which is cruicial for fighting infections
IgG
what is severe combined immunodeficiency (SCID) characterised by
severe deficiency in both t cells and b cells
what does leukocyte adhesion deficiency (LAD) affect function of
WBCs, specifically neutrophils
what part of a cells function is dysfunction in chediak-higashi disease, so neutrophils and NK cells cant destroy bacteria and viruses
lysosomes
what does chronic granulomatous disease affect
ability of phagocytes to make NADPH oxidase which creates ROS to destroy bacterial and fungal pathogens
