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Cyp450 Interactions > Immunodeficiencies > Flashcards

Immunodeficiencies Flashcards

1
Q

what is the defect in Bruton agammaglobulinemia?

A

BTK - tyrosine kinase - no B cell maturation

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2
Q

what is the defect in CVID?

A

B cell differentiation

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3
Q

what is the defect in digeorge?

A

22q11 deletion - failure to develop 3rd and 4th pharyngeal pouches

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4
Q

what is the defect in IL-12 receptor deficiency?

A

low Th1 response since IL-12 normally induces T cells to develop into Th1 cells

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5
Q

what is the defect in hyper IgE sydrome?

A

deficiency of Th17 cells due to STAT3 mutation - impaired recruitment of neutrophils to site of infection

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6
Q

what are the possible defects in SCID?

A
  • defective IL-2R gamma chain

- ADA deficiency

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7
Q

what is the defect in ataxia telangiectasia?

A

defect in ATM gene - failure to repair DNA double stranded breaks - cell cycle arrest

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8
Q

what is the defect in hyper IgM syndrome?

A

defective CD40L on Th cells - defect in class switching

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9
Q

what is the defect in wiskott aldrich syndrome?

A

mutation in WAS gene - T cells unable to reorganize actin cytoskeleton

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10
Q

what is the defect in luekocyte adhesion deficiency?

A

defect on LFA-1 integrin (CD18) protein on phagocytes - impaired migration and chemotaxis

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11
Q

what is the defect in chediak higashi syndrome?

A

defect in lysosomal trafficking regulator gene (LYST) - microtubule dysfunction in phagosome-lysosome fusion

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12
Q

what is the defect in CGD?

A

defect of NADPH oxidase - low ROS and respiratory burst in neutrophils

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13
Q

what is the inheritance of Bruton agamma?

A

XR

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14
Q

what is the inheritance of IL-12 receptor deficiency?

A

AR

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15
Q

what is the inheritance of hyper IgE?

A

AD

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16
Q

what is the inheritance of SCID? (2 types)

A
  • defective IL-2R gamma chain (X linked)

- ADA deficiency (AR)

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17
Q

what is the inheritance of hyper IgM?

A

XR

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18
Q

what is the inheritance of wiskott aldrich?

A

XR

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19
Q

what is the inheritance of leukocyte adhesion deficiency?

A

AR

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20
Q

what is the inheritance of chediak higashi syndrome?

A

AR

21
Q

what is the inheritance of CGD?

A

XR

22
Q

presentation:

- recurrent bacterial and enteroviral infections after 6 months

A

bruton agamma

23
Q

presentation:

  • airway and GI infections
  • autoimmune diseases
  • atopy
  • anaphylaxis
A

selective IgA

24
Q

presentation:

  • presents later in life (20s and 30s)
  • increased risk of autoimmune disease
  • bronchiectasis
  • lymphoma
  • sinopulmonary infections
A

CVID

25
Q

presentation:

  • tetany
  • hypocalcemia
  • recurrent viral / fungal infections
  • conotruncal abnormalities (tet fallot, truncus)
A

digeorge

26
Q

presentation:

  • disseminated mycobacterial and fungal infections
  • may occur after BCG vaccine
A

IL-12 deficiency

27
Q

presentation:

  • coarse facies
  • noninflamed staph abscesses
  • retained primary teeth
  • derm problems (eczema)
A

hyper IgE syndrome

28
Q

presentation:

noninvasive candida albicans infections of skin and mucous membranes

A

chronic mucocutaneous candidiasis

29
Q

presentation:

  • failure to thrive
  • chronic diarrhea
  • thrush
  • recurrent bacterial, fungal, protozoal infections
A

SCID

30
Q

presentation:

  • cerebellar defects
  • spider angiomas
  • IgA deficiency
A

ataxia telangiectasia

31
Q

presentation:

  • severe pyogenic infections early in life
  • opportunistic infection with pneumocystis, crypto, CMV
A

hyper IgM

32
Q

presentation:

  • thrombocytopenia
  • eczema
  • recurrent infections
A

wiskott aldrich

33
Q

presentation:

  • recurrent bacterial skin and mucosal infections
  • absent pus formation
  • impaired wound healing
  • delayed separation of umbilical cord
A

leukocyte adhesion deficiency

34
Q

presentation:

  • recurrent pyogenic infections by staph and strep
  • partial albinism
  • peripheral neuropathy
  • progressive neurodegeneration
  • infiltrative lymphohistiocytosis
A

chediak higashi

35
Q

presentation:

- increased susceptibility to catalase positive organisms

A

CGD

36
Q

lab findings:

  • absent B cells in peripheral blood
  • low Ig (all classes)
  • absent / scant lymph nodes and tonsils
A

bruton agamma

37
Q

lab findings:

  • low IgA
  • normal IgG, IgM
A

selective IgA

38
Q

lab findings:

  • low plasma cells
  • low Igs
  • normal number of circulating B cells
A

CVID

39
Q

lab findings:

  • low T cells
  • low PTH
  • low calcium
  • absent thymic shadow on CXR
A

digeorge

40
Q

lab findings:

  • low IFNy
A

IL-12 receptor deficiency

41
Q

lab findings:

  • low IFNy
  • elevated IgE
A

hyper IgE

42
Q

lab findings:

  • absent in vitro T cell proliferation in response to candida antigens
  • absent cutaneous reaction to candida antigens
A

chronic mucocutaneous candidiasis

43
Q

lab findings:

  • low T cell receptor excision circles (TRECs)
  • absence of thymic shadow on CXR
  • absence of germinal centers
  • absence of T cells
A

SCID

44
Q

lab findings:

  • elevated AFP
  • low IgA
  • low IgG
  • low IgE
  • lymphopenia
A

ataxia telangiectasia

45
Q

lab findings:

  • elevated IgM
  • very low IgG
  • very low IgA
  • very low IgE
A

hyper IgM

46
Q

lab findings:

  • low-to-normal IgG
  • low-to-normal IgM
  • elevated IgE
  • elevated IgA
  • fewer and smaller platelets
A

wiskott aldrich

47
Q

lab findings:

  • increased neutrophils
  • absence of neutrophils at infection site
A

leukocyte adhesion deficiency

48
Q

lab findings:

  • giant granules in granulocytes and platelets
  • pancytopenia
  • mild coagulation defects
A

chediak higashi

49
Q

lab findings:

  • abnormal dihydrorhodamine (flow cytometry) test
  • negative NBT test
A

CGD

Cyp450 Interactions (18 decks)

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