immunodeficiences Flashcards

1
Q

congetical = present at ____

hereditary = ____ present

A

birth

genetically

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2
Q

pyogenic means ____ forming or ____ related

A

pus

pus

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3
Q

phagocytic cell deficiencies

A

luekocyte adhesion deficiency

chronic granulomatous disease (CGD)

clucose-6-phosphate dehydrogenase (G6PH) deficiency

myeloperoixidase deficiency

chediak-higashi syndrome

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4
Q

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)
A
  • CD18
    • integrin
  • phagocytes
  • capsulated bacterial
  • death
  • neutrophilia
  • wound, umbilical
  • pus
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5
Q

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)
A
  • immune
  • phagocytic
  • males
  • NADPH oxidase
    • ROS
    • extracellular
  • bacterial and fungal
  • catalase positive
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6
Q

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 ____
A
  • X-linked recessive
    • males
  • anemia
  • 6-phosphogluconate
    • NADPH
  • asymptomatic
    • granulomas
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7
Q

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
A
  • autosomal
  • common
    • hypochlorite or bleach
  • diabetic
  • yeast
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8
Q

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
A
  • autosomal
  • wheelchair, 30
    • cathepsin G and elastase
  • albinism
  • pyogenic
  • infections
  • lymphoproliferative
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9
Q

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
A
  • autosomal dominant
  • TLR3
  • pyogenic
  • fevers
    • IL-1
  • HSV
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10
Q

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
A
  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
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11
Q

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
A
  • immune, apoptotic, debris
    • SLE
      • RBCs
      • deposited
    • caucasians
      • pneumoniae
  • acquired
    • autosomal
      • neisseria
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12
Q

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
A
    • C3
  • rare
    • kidney
      • activation
    • X
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13
Q

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 ____ ____
A
  • Alternative
    • C3b
    • Bb
    • factor I
  • macular degeneration
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14
Q

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 ____
A
  • C1-INH
  • swelling
    • bradykinin
      • kallikrein
        • bradykinin
          • swelling
  • C1-INH
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15
Q

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