immunodeficiences Flashcards
congetical = present at ____
hereditary = ____ present
birth
genetically
pyogenic means ____ forming or ____ related
pus
pus
phagocytic cell deficiencies
luekocyte adhesion deficiency
chronic granulomatous disease (CGD)
clucose-6-phosphate dehydrogenase (G6PH) deficiency
myeloperoixidase deficiency
chediak-higashi syndrome
leukocyte adhesion defidiencies:
- ____ is defective/missing
- impaired ____ functioning
- disrupts normal migration of ____ (especially neutrophils)
- widespread ____ ____ infections
- early ____
- ____ (increased neutrophil count in blood)
- slow ____ healing (e.g. ____ cord healing)
- lack of ____ (due to lack of neutrophils at tissue site)
- CD18
- integrin
- phagocytes
- capsulated bacterial
- death
- neutrophilia
- wound, umbilical
- pus
chronic granulomatous disease (CGD):
- granulomas are masses of ____ cells that form at sites of infection of inflammation
- is a ____ disorder
- more common in ____
- ____ ____ enzyme deficiency in phagocytes
- phagocytes fail to generate ____
- impairs killing function of ____ pathogens
- chronic ____ and ____ infections
- recurrent ____ ____ bacterial infections (staph infections)
- immune
- phagocytic
- males
- NADPH oxidase
- ROS
- extracellular
- bacterial and fungal
- catalase positive
G6PD Deficiency:
- ____ ____ hereditary
- more common in ____
- associated with ____ (bc G6P is important in RBC metabolism)
- failure to take G6P → ____
- decrease in ____ production
- most individuals with G6PD deficiency are usually ____
- similar manifestation to CGD and common tendency to form ____
- X-linked recessive
- males
- anemia
- 6-phosphogluconate
- NADPH
- asymptomatic
- granulomas
myeloperoxidase (MPO) Deficiency:
- ____ recessive
- most ____ primary phagocyte disorder
- MPO enzyme deficiency
- failure to take H2O2 → HOCl ( ____ or ____ )
- manifests in ____ patients during infections
- linked to killing ____ in laboratory settings
- autosomal
- common
- hypochlorite or bleach
- diabetic
- yeast
chediak-higashi syndrome:
- ____ recessive
- ____ bound and die in early ____s
- ____ granules in neutrophils
- lack ____ ____ and ____
- partial ____
- recurrent ____ granulomas
- phase 1 = ____
- phase 2 = ____ syndrome
- hepatosplenomegaly and lymphadenopathy
- autosomal
- wheelchair, 30
- cathepsin G and elastase
- albinism
- pyogenic
- infections
- lymphoproliferative
TLR deficiencies (MyD88 Deficiency):
- ____ dominant
- results in impaired signaling for all TLRs except ____ (MyD88 independent)
- severe infections caused by ____ bacteria
- characteristically lack ____ during infections
- low levels of TNF-a, ____ , and IL-6
- increases susceptibility to ____ encephalitis
- autosomal dominant
- TLR3
- pyogenic
- fevers
- IL-1
- HSV
complementary deficiencies:
- C3 → consequence of activation → clincial association
- C3, properdin, MAC proteins → consequence of activation → clincial association
- C1 inhibitor → consequence of activation → clincial association
- CD59 → consequence of activation → clincial association
- C1q, C1r and C1s, C4, C2 → consequence of activation → clincial association
- factor H and I → consequence of activation → clincial association
- loss of major complenet opsin and failure to activate MAC; pygoenic bacterial infections, glomerulonephritis
- failure to form MAC; neisserial infection
- loss of regulation of C1 and fialure to active kallidrein; angioedema
- failure to prevent MAC formation on auto cells; hemolysis, thrombosis
- failure to active the classical pathway; systemic lupus erythematosus
- failure to regulate the activation of C3, severe secoondoary C3 deficiency; hemolytic-uremic syndrome, glomerulonephritis
classical pathway immunodeficiencies:
- CP is responsible for clearance of ____ complexes, ____ cells, and cell ____ from damaged tissues
- C1 and C4 deficiency
- linked to ____ and RA
- small complexes are cleared when they bind to CRs on ____
- large complexes cannot be cleared and are ____ in tissues
- C2 deficiency
- most common is ____
- recurrent streptocossus ____
- ____ deficiencies in complement proteins ar more common than inherited
- C8 deficiency
- ____ recessive
- susceptable to ____ infections
- immune, apoptotic, debris
- SLE
- RBCs
- deposited
- SLE
- caucasians
- pneumoniae
- caucasians
- acquired
- autosomal
- neisseria
- autosomal
alternative pathway immunodeficiencies:
- factor D deficiency
- unable to activate ____
- factor B deficiency is extremely ____
- factor H deficiency
- ____ disease: hemolytic uremic syndrome for example
- uncontrolled ____ of AP
- properdin deficiency
- ____ linked
- C3
- rare
- kidney
- activation
- kidney
- X
role of factor H in hemolytic uremic syndrome:
- regualtes ____ pathway
- binds to ____
- dissocaites __ from C3 convertase
- cofactor activity for the ____ - mediated cleave of C3b
- also associated with age-related ____ ____
- Alternative
- C3b
- Bb
- factor I
- macular degeneration
hereditary angioedema (HAE):
- caused by ____ deficiency
- C1-INH regulates different proteases including ____ , ____ , ____ , ____
- recurrent ____ of face and GI tract
- caused by ____ pathway
- C1-INH inactivates ____
- kallikrein produces ____
- bradykinin produces ____
- kallikrein produces ____
- C1-INH inactivates ____
- caused by ____ pathway
- treatment: replace ____
- C1-INH
- swelling
- bradykinin
- kallikrein
- bradykinin
- swelling
- bradykinin
- kallikrein
- bradykinin
- C1-INH
paroxysmal nocturnal hemoglobinuria (PNH):
- deficiency of glycosylphosphatidylinositol which leads to deficiency in ____ and ____
- DAF (CD55) and CD59 are complement regulatory proteins invovled in protecting ____
- intravascular ____ occurs
- blood in ____ after sleeping is a classic report of PNH
- classic example of failure to regulate the formation of ____
- DAF (CD55) and CD59
- RBCs
- hemolysis
- urine
- MAC