immunodeficiences

Question 1

congetical = present at ____

hereditary = ____ present

Answer 1

birth

genetically

Question 2

pyogenic means ____ forming or ____ related

Answer 2

pus

pus

Question 3

phagocytic cell deficiencies

Answer 3

luekocyte adhesion deficiency

chronic granulomatous disease (CGD)

clucose-6-phosphate dehydrogenase (G6PH) deficiency

myeloperoixidase deficiency

chediak-higashi syndrome

Question 4

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)

Answer 4

• CD18
  
  • integrin
• phagocytes
• capsulated bacterial
• death
• neutrophilia
• wound, umbilical
• pus

Question 5

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)

Answer 5

• immune
• phagocytic
• males
• NADPH oxidase
  
  • ROS
  • extracellular
• bacterial and fungal
• catalase positive

Question 6

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 ____

Answer 6

• X-linked recessive
  
  • males
• anemia
• 6-phosphogluconate
  
  • NADPH
• asymptomatic
  
  • granulomas

Question 7

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

Answer 7

• autosomal
• common
• • hypochlorite or bleach
• diabetic
• yeast

Question 8

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

Answer 8

• autosomal
• wheelchair, 30
  
  • cathepsin G and elastase
• albinism
• pyogenic
• infections
• lymphoproliferative

Question 9

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

Answer 9

• autosomal dominant
• TLR3
• pyogenic
• fevers
  
  • IL-1
• HSV

Question 10

complementary deficiencies:

1. C3 → consequence of activation → clincial association
2. C3, properdin, MAC proteins → consequence of activation → clincial association
3. C1 inhibitor → consequence of activation → clincial association
4. CD59 → consequence of activation → clincial association
5. C1q, C1r and C1s, C4, C2 → consequence of activation → clincial association
6. factor H and I → consequence of activation → clincial association

Answer 10

1. loss of major complenet opsin and failure to activate MAC; pygoenic bacterial infections, glomerulonephritis
2. failure to form MAC; neisserial infection
3. loss of regulation of C1 and fialure to active kallidrein; angioedema
4. failure to prevent MAC formation on auto cells; hemolysis, thrombosis
5. failure to active the classical pathway; systemic lupus erythematosus
6. failure to regulate the activation of C3, severe secoondoary C3 deficiency; hemolytic-uremic syndrome, glomerulonephritis

Question 11

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

Answer 11

• immune, apoptotic, debris
• • SLE
    
    • RBCs
    • deposited
• • caucasians
    
    • pneumoniae
• acquired
• • autosomal
    
    • neisseria

Question 12

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

Answer 12

• • C3
• rare
• • kidney
    
    • activation
• • X

Question 13

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 ____ ____

Answer 13

• Alternative
  
  • C3b
  • Bb
  • factor I
• macular degeneration

Question 14

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 ____
• treatment: replace ____

Answer 14

• C1-INH
• swelling
  
  • bradykinin
    
    • kallikrein
      
      • bradykinin
        
        • swelling
• C1-INH

Question 15

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 ____

Answer 15

• DAF (CD55) and CD59
  
  • RBCs
• hemolysis
• urine
• MAC