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Immuno Deficiencies Flashcards

1
Q

Reccurent SINOPULMONARY bacterial infections point to which type of PID?

A

humoral immunity

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2
Q

Reccurent VIRAL or FUNGAL infections point to which type of PID?

A

cell mediated immunity

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3
Q

recurrent skin abscess or fungal infections point to which type of PID?

A

phagocyte defect

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4
Q

Bacterial meningitis with encapsulated bacteria point to which type of PID?

A

complement deficiency

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5
Q

Serum immunoglobulin levels help detect which immunodeficiency?

A

humoral immunodeficiency

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6
Q

Differential count of blood cells screens for?

A

T cell/ Bcell/ T/B defects

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7
Q

NItroblue tetrazolium measures oxidative activity to screen for ?

A

Phagocytic disorder

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8
Q

What are some overall characteristics of SCIDs?

A
  1. deficient in T and B cells
  2. severe opportunistic infections
  3. AVOID LIVE vaccinations
  4. LOW immunoglobins
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9
Q

This immunodeficiency is described by accumulation in toxic deoxyadenosine ? What type of DEFECT is this associated with?

A
  1. ADA deficiency

2. defect in lymphocyte MATURATION

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10
Q

What accumulates in Purine Nucleoside Phosphorylase Deficiency? How do you treat pts with this?

A
  1. dGTP

2. HSCT / NO live viral vaccines

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11
Q

Purine Nucleoside Phosphorylase Deficiency

  1. What accumulates?
  2. IG levels?
  3. treatment?
A
  1. dGTP
  2. NORMAL
  3. HSCT / NO live viral vaccines
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12
Q

Artemis Deficiency:

  1. What is the deficiency
  2. Treatment?
  3. IG level?
A
  1. Mutation in artemis gene (for VDJ recombo & double strand repair)
  2. HSCT / NO live viral vaccines
  3. LOW
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13
Q

What is the immunophenotype of artemis deficiency?

A

T-B-NK+

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14
Q

Immunophenotype of PNP?

A

T-B+NK+/-

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15
Q

Immunophenotype of ADA deficiency?

A

T-B-NK-

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16
Q

RAG 1/ 2 deficiency

  1. At what stage do T/B cell arrest due to this deficiency?
  2. What is the MILD form of this deficiency?
  3. IG level?
  4. Treatment ?
A
  1. Pre B and Pre T
  2. Leaky rag1/rag2 = OMEN SYNDROME (high IgE)
  3. LOW
  4. HSCT/ no live viral vaccines
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17
Q

Immunophenotype of Rag1/2 deficiency?

A

T-B-NK+

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18
Q

What (5) immunodeficiencies cause defect in LYMPHOCYTE MATURATION?

A
  1. ADA
  2. PNP deficiency
  3. RAG1/2 deficiency
  4. Jak deficiency
  5. Artemis Deficiency
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19
Q

Which immunodeficiency is characterized by increased radiosensitivity?

A

Artemis deficiency (SCID )

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20
Q

Jak deficiency?

  1. Cause and effect of this ?
  2. IG levels?
A
  1. Mutation in Jak3/ defect in IL-2 signaling

2. VERY low levels

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21
Q

Immunophenotype of Jak3 deficiency?

A

T-B+NK-

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22
Q

Which immunodeficiences are associated with defect in Bcell MATURATION?

A
  1. agammaglobulinemia X LINKED
  2. IgG deficiency
  3. IgA Deficiency
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23
Q

Aggamaglobulinemia…

  1. Cause of this?
  2. IG levels
  3. mode of inheritance
A
  1. BtK deficiency; no rearrangement of heavy chain
  2. NONE
  3. X LINKED
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24
Q

Immunophenotype of Aggamaglobulinemia…

A

?

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25
Q

Low levels of IgG2 are associated with poor response to ?

A

polysaccharide Ags

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26
Q

IgG deficiency

  1. Cause?
  2. IG levels
  3. Associated with what infection
A
  1. defect in many genes
  2. LOW igG; NORMAL IgA IgM IgE
  3. with bacterial/ viral infection involving RESPIRATORY tract
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27
Q

Immunophenotype of IgG deficiency

A

B+ T+ NK+

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28
Q

Ig A deficiency

  1. Cause/effect?
  2. IG levels
  3. Treatment to avoid?
A
  1. decreased IgA; ^^ risk of autoimmune disease development
  2. NO IgA , all others NORMAL
  3. AVOID IVIG due to antibodies produced against IgA
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29
Q

Immunophenotype of IgA deficiency

A

B+ T+ NK+

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30
Q

What immunodeficiencies (3) cause defects in B Cell maturation?

A
  1. Agammaglobulinemia
  2. IgG deficiency
  3. IgA deficiency
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31
Q

DiGeorge Syndrome

  1. Causes?
  2. IG level?
  3. Common sxs?
A
  1. deletion of chromosome 22q11
  2. NORMAL IGs
  3. “CaTcH 22” Cardiac anomaly, Thymic hypoplasia, Hypocalcemia
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32
Q

Immunophenotype of DiGeorge syndrome?

A

T- B+ NK+

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33
Q

Hyper IgM Syndrome…

  1. causes? (2)
  2. IG levels
  3. potential treatment ?
A
  1. CD40L or CD40 deficiency
  2. HIGH IgM , LOW IgG, IgA
  3. administer IVIG to compensate for lack of class switch
34
Q

This immunodeficiency is characterized by decrease in VDJ recombination and unrepaired double strand breaks. Does not allow for T/B cell maturation.

A

ARTEMIS deficiency

35
Q

This Immunodeficiency is characterized by cardiac anomaly, thymic hyperplasia, and hypocalcemia. It interferes with which lymphocyte development?

A

DiGeorge syndrome “CaTcH 22”

defect in T cell maturation

36
Q

Immunophenotype of IgM

37
Q

Which immunodeficiency causes defect in IL-2 signaling?

What is the associated defect?

A

Jak-3 defciency

defect in B/T cell maturation

38
Q

Transient HYPOgammaglobulinemia INFANCY

  1. cause?
  2. IG levels
  3. increased susceptibility to ?
A
  1. drop in maternal IgG ; delayed baby IgG production
  2. LOW IgG/ IgA ; low/ normal IgM
  3. sinopulmonary infxn
39
Q

Immunophenotype of Transient HYPOgammaglobulinemia

40
Q

CVID (common variable immune deficiency)

  1. cause?
  2. IG level?
  3. increased risk for ?
A
  1. defect in Ab production; B cells are phenotypically normal but are unable to differentiate into Ig-producing cells
  2. LOW IgA, IgG, IgM
  3. lymphomas, autoimmune disease
41
Q

Immunophenotype CVID?

A

B+/- T+ NK+

42
Q

Which (3) immunodeficiencies cause defect in B cell activation/function?

A
  1. Transient Hypogammaglobunemia
  2. Hyper IgM syndromes
  3. CVID
43
Q

Which immunodeficiency is associated with drop in Maternal IgG after birth? What defect does this contribute to?

A
  1. Transient hypgammaglobinemia

2. defect in B cell activation/ function

44
Q

Common y chain deficiency?

  1. cause/effect?
  2. IG level
A
  1. no y chain for IL-2 receptor (IL-2 needed for T cell activation
  2. LOW for IGs ( lack of helpers to activate B cells)
45
Q

Immunophenotype of Common y chain deficiency?

46
Q

IL7R alpha chain deficiency..

  1. effect?
  2. IG levels
A
  1. deficiency in cytokine for lymphocyte development

2. IG levels LOW

47
Q

MOST common form of SCID ?

A

Common y chain deficiency

48
Q

Immunophenotype of IL7R alpha chain deficiency..

49
Q

Which deficiency in hyper IGM syndrome is X linked ?

50
Q

Bare lymphocyte 2

  1. cause
  2. treatment
A
  1. mut in MHC 2 genes , decrease in CD4 + cells

2. HSCT

51
Q

immunophenotype of Bare lymphocyte 2 ?

52
Q

immunophenotype of Bare lymphocyte 1?

53
Q

Bare lymphocyte 1

  1. cause
  2. IG level
A
  1. deficient TAP 1 ; decrease MHC 1 , decrease CD8+ cell

2. NORMAL IGs

54
Q

CD3 complex deficiency

  1. cause
  2. IG level
  3. treatment
  4. sxs
A
  1. deficiency in CD3 subunit . ( for signal transduction )
  2. IG LOW levels
  3. HSCT
  4. those of SCID . (chronic diarrhea, failure to thrive)
55
Q

Immunophenotype of CD3 complex deficiency?

56
Q

This immunodeficiency is lack of cytokine required for lymphocyte development?

A

IL-7 alpha chain deficiency

57
Q

IFNy-IL-12R axis deficiency

  1. cause?
  2. susceptibility to ?
  3. associated with defect with which immune response?
A
  1. IFNy receptor / IL-12 R mutation
  2. intracellular pathogens (unable to activate macrophages
  3. defect in function/activation of T cells
58
Q

Th 17 deficiency?

  1. cause?
  2. susceptibility to ?
A
  1. mut in genees STAT1/2 , IL17 or IL-17 R

2. fungal infections

59
Q

Which immunodeficiencies cause defect in T HELPER differentiation?

A

IFNy-IL12 deficiency

60
Q

Mutation in FOx p3 allows self reactive effector cells to go UNinhibited… what is this?

61
Q

Defects in Fas , FasL or caspase lead to resistance of effector cells to apoptosis

62
Q

Wiscott Aldrich Syndrome

  1. cause
  2. IG level
  3. inheritance pattern?
  4. characterized by?
A
  1. mutation in WASP
  2. low IgM , HIGH IgA and IgE
  3. X LINKED
  4. thrombcytopenia/ ECZEMA
63
Q

Immunophenotype Wiscott Aldrich Syndrome

64
Q

Classical NKD is caused by?

A

Mutation in transcription factor GATA2 ; no NK cells produced

65
Q

Functional NKD caused by?

A

decreased functionality of NK cell; perforin deficiency

66
Q

LAD 1 (leukocyte adhesion deficiency)

A

defect in B2 INTEGRINS; lack of LFA-1

67
Q

LAD 2 (leukocyte adhesion deficiency)

A

impaired P selectin/ mutation in FUCOSE transporter

68
Q

LAD 3 (leukocyte adhesion deficiency)

A

defective signaling via B2 integrins

69
Q

Delayed detachment of umbilical cord , failure to form pus is characteristic of which immunodeficiency?

70
Q

Deficiency in NAPH oxidase in phagocytes is what immunodeficiency?

A

Chronic granulomatous disease

71
Q

Which immunodeficiency is more susceptible to CATALASE positive bacteria?

A

Chronic granulomatous disease

72
Q

G6PD deficiency is what type of inheritance? sxs?

A

XLINKED, anemia and granuloma formation

73
Q

This immunodeficiency is characterized by neutrophils with GIANT granules and lack of digestive enzymes…resulting in decreased chemotaxis.

A

Chediak Higashi Syndrome

74
Q

Which components of Complement, when deficient, increase susceptibility to NEISSEIRIA species

A

C5-C9 from MAC complex

75
Q

C1 and C4 defiency are linked to development of

A

systemic lupus and RA

76
Q

Deficiency of this complement protein manifests as recurrent infections?

77
Q

Which Complement protein deficiency is responsible for Hereditary angioedema?

A

C1 esterase

78
Q

Paroxysmal Nocturnal Hemoglobinuria results as a deficiency in

A

GP1

unable to anchor DAF And CD59 to RBC to prevent attack by complement

79
Q

Myd88 deficiency

  1. effect?
  2. sxs?
A
  1. impaired TLR signaling (NOT IN TLR3)

2. lack fevers, pro inflammatory IFny IL-1 Il-6 LOW

80
Q

which TLR is not affected by Myd88 deficiency?

SFM Final (7 decks)

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