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Cyp450 Interactions > Immunodeficiencies > Flashcards

Immunodeficiencies Flashcards

(49 cards)

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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?

21
Q

what is the inheritance of CGD?

22
Q

presentation:

- recurrent bacterial and enteroviral infections after 6 months

Study These Flashcards
A

bruton agamma

23
Q

presentation:

  • airway and GI infections
  • autoimmune diseases
  • atopy
  • anaphylaxis
Study These Flashcards
A

selective IgA

24
Q

presentation:

  • presents later in life (20s and 30s)
  • increased risk of autoimmune disease
  • bronchiectasis
  • lymphoma
  • sinopulmonary infections
25
presentation: - tetany - hypocalcemia - recurrent viral / fungal infections - conotruncal abnormalities (tet fallot, truncus)
digeorge
26
presentation: - disseminated mycobacterial and fungal infections - may occur after BCG vaccine
IL-12 deficiency
27
presentation: - coarse facies - noninflamed staph abscesses - retained primary teeth - derm problems (eczema)
hyper IgE syndrome
28
presentation: noninvasive candida albicans infections of skin and mucous membranes
chronic mucocutaneous candidiasis
29
presentation: - failure to thrive - chronic diarrhea - thrush - recurrent bacterial, fungal, protozoal infections
SCID
30
presentation: - cerebellar defects - spider angiomas - IgA deficiency
ataxia telangiectasia
31
presentation: - severe pyogenic infections early in life - opportunistic infection with pneumocystis, crypto, CMV
hyper IgM
32
presentation: - thrombocytopenia - eczema - recurrent infections
wiskott aldrich
33
presentation: - recurrent bacterial skin and mucosal infections - absent pus formation - impaired wound healing - delayed separation of umbilical cord
leukocyte adhesion deficiency
34
presentation: - recurrent pyogenic infections by staph and strep - partial albinism - peripheral neuropathy - progressive neurodegeneration - infiltrative lymphohistiocytosis
chediak higashi
35
presentation: | - increased susceptibility to catalase positive organisms
CGD
36
lab findings: - absent B cells in peripheral blood - low Ig (all classes) - absent / scant lymph nodes and tonsils
bruton agamma
37
lab findings: - low IgA - normal IgG, IgM
selective IgA
38
lab findings: - low plasma cells - low Igs - normal number of circulating B cells
CVID
39
lab findings: - low T cells - low PTH - low calcium - absent thymic shadow on CXR
digeorge
40
lab findings: - low IFNy
IL-12 receptor deficiency
41
lab findings: - low IFNy - elevated IgE
hyper IgE
42
lab findings: - absent in vitro T cell proliferation in response to candida antigens - absent cutaneous reaction to candida antigens
chronic mucocutaneous candidiasis
43
lab findings: - low T cell receptor excision circles (TRECs) - absence of thymic shadow on CXR - absence of germinal centers - absence of T cells
SCID
44
lab findings: - elevated AFP - low IgA - low IgG - low IgE - lymphopenia
ataxia telangiectasia
45
lab findings: - elevated IgM - very low IgG - very low IgA - very low IgE
hyper IgM
46
lab findings: - low-to-normal IgG - low-to-normal IgM - elevated IgE - elevated IgA - fewer and smaller platelets
wiskott aldrich
47
lab findings: - increased neutrophils - absence of neutrophils at infection site
leukocyte adhesion deficiency
48
lab findings: - giant granules in granulocytes and platelets - pancytopenia - mild coagulation defects
chediak higashi
49
lab findings: - abnormal dihydrorhodamine (flow cytometry) test - negative NBT test
CGD

Cyp450 Interactions (18 decks)

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