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SFM Final > Immuno Deficiencies > Flashcards

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
Low levels of IgG2 are associated with poor response to ?
polysaccharide Ags
26
IgG deficiency 1. Cause? 2. IG levels 3. Associated with what infection
1. defect in many genes 2. LOW igG; NORMAL IgA IgM IgE 3. with bacterial/ viral infection involving RESPIRATORY tract
27
Immunophenotype of IgG deficiency
B+ T+ NK+
28
Ig A deficiency 1. Cause/effect? 2. IG levels 3. Treatment to avoid?
1. decreased IgA; ^^ risk of autoimmune disease development 2. NO IgA , all others NORMAL 3. AVOID IVIG due to antibodies produced against IgA
29
Immunophenotype of IgA deficiency
B+ T+ NK+
30
What immunodeficiencies (3) cause defects in B Cell maturation?
1. Agammaglobulinemia 2. IgG deficiency 3. IgA deficiency
31
DiGeorge Syndrome 1. Causes? 2. IG level? 3. Common sxs?
1. deletion of chromosome 22q11 2. NORMAL IGs 3. "CaTcH 22" Cardiac anomaly, Thymic hypoplasia, Hypocalcemia
32
Immunophenotype of DiGeorge syndrome?
T- B+ NK+
33
Hyper IgM Syndrome... 1. causes? (2) 2. IG levels 3. potential treatment ?
1. CD40L or CD40 deficiency 2. HIGH IgM , LOW IgG, IgA 3. administer IVIG to compensate for lack of class switch
34
This immunodeficiency is characterized by decrease in VDJ recombination and unrepaired double strand breaks. Does not allow for T/B cell maturation.
ARTEMIS deficiency
35
This Immunodeficiency is characterized by cardiac anomaly, thymic hyperplasia, and hypocalcemia. It interferes with which lymphocyte development?
DiGeorge syndrome "CaTcH 22" | defect in T cell maturation
36
Immunophenotype of IgM
B+T+NK+
37
Which immunodeficiency causes defect in IL-2 signaling? | What is the associated defect?
Jak-3 defciency | defect in B/T cell maturation
38
Transient HYPOgammaglobulinemia INFANCY 1. cause? 2. IG levels 3. increased susceptibility to ?
1. drop in maternal IgG ; delayed baby IgG production 2. LOW IgG/ IgA ; low/ normal IgM 3. sinopulmonary infxn
39
Immunophenotype of Transient HYPOgammaglobulinemia
B+ T+ NK+
40
CVID (common variable immune deficiency) 1. cause? 2. IG level? 3. increased risk for ?
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
Immunophenotype CVID?
B+/- T+ NK+
42
Which (3) immunodeficiencies cause defect in B cell activation/function?
1. Transient Hypogammaglobunemia 2. Hyper IgM syndromes 3. CVID
43
Which immunodeficiency is associated with drop in Maternal IgG after birth? What defect does this contribute to?
1. Transient hypgammaglobinemia | 2. defect in B cell activation/ function
44
Common y chain deficiency? 1. cause/effect? 2. IG level
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
Immunophenotype of Common y chain deficiency?
T- B+ NK+
46
IL7R alpha chain deficiency.. 1. effect? 2. IG levels
1. deficiency in cytokine for lymphocyte development | 2. IG levels LOW
47
MOST common form of SCID ?
Common y chain deficiency
48
Immunophenotype of IL7R alpha chain deficiency..
T-B+NK+
49
Which deficiency in hyper IGM syndrome is X linked ?
CD40L
50
Bare lymphocyte 2 1. cause 2. treatment
1. mut in MHC 2 genes , decrease in CD4 + cells | 2. HSCT
51
immunophenotype of Bare lymphocyte 2 ?
T+B+NK-
52
immunophenotype of Bare lymphocyte 1?
T+B+NK-
53
Bare lymphocyte 1 1. cause 2. IG level
1. deficient TAP 1 ; decrease MHC 1 , decrease CD8+ cell | 2. NORMAL IGs
54
CD3 complex deficiency 1. cause 2. IG level 3. treatment 4. sxs
1. deficiency in CD3 subunit . ( for signal transduction ) 2. IG LOW levels 3. HSCT 4. those of SCID . (chronic diarrhea, failure to thrive)
55
Immunophenotype of CD3 complex deficiency?
T-B+NK+
56
This immunodeficiency is lack of cytokine required for lymphocyte development?
IL-7 alpha chain deficiency
57
IFNy-IL-12R axis deficiency 1. cause? 2. susceptibility to ? 3. associated with defect with which immune response?
1. IFNy receptor / IL-12 R mutation 2. intracellular pathogens (unable to activate macrophages 3. defect in function/activation of T cells
58
Th 17 deficiency? 1. cause? 2. susceptibility to ?
1. mut in genees STAT1/2 , IL17 or IL-17 R | 2. fungal infections
59
Which immunodeficiencies cause defect in T HELPER differentiation?
IFNy-IL12 deficiency
60
Mutation in FOx p3 allows self reactive effector cells to go UNinhibited... what is this?
IPEX
61
Defects in Fas , FasL or caspase lead to resistance of effector cells to apoptosis
ALPS
62
Wiscott Aldrich Syndrome 1. cause 2. IG level 3. inheritance pattern? 4. characterized by?
1. mutation in WASP 2. low IgM , HIGH IgA and IgE 3. X LINKED 4. thrombcytopenia/ ECZEMA
63
Immunophenotype Wiscott Aldrich Syndrome
T-B+NK-
64
Classical NKD is caused by?
Mutation in transcription factor GATA2 ; no NK cells produced
65
Functional NKD caused by?
decreased functionality of NK cell; perforin deficiency
66
LAD 1 (leukocyte adhesion deficiency)
defect in B2 INTEGRINS; lack of LFA-1
67
LAD 2 (leukocyte adhesion deficiency)
impaired P selectin/ mutation in FUCOSE transporter
68
LAD 3 (leukocyte adhesion deficiency)
defective signaling via B2 integrins
69
Delayed detachment of umbilical cord , failure to form pus is characteristic of which immunodeficiency?
LAD
70
Deficiency in NAPH oxidase in phagocytes is what immunodeficiency?
Chronic granulomatous disease
71
Which immunodeficiency is more susceptible to CATALASE positive bacteria?
Chronic granulomatous disease
72
G6PD deficiency is what type of inheritance? sxs?
XLINKED, anemia and granuloma formation
73
This immunodeficiency is characterized by neutrophils with GIANT granules and lack of digestive enzymes...resulting in decreased chemotaxis.
Chediak Higashi Syndrome
74
Which components of Complement, when deficient, increase susceptibility to NEISSEIRIA species
C5-C9 from MAC complex
75
C1 and C4 defiency are linked to development of
systemic lupus and RA
76
Deficiency of this complement protein manifests as recurrent infections?
C2
77
Which Complement protein deficiency is responsible for Hereditary angioedema?
C1 esterase
78
Paroxysmal Nocturnal Hemoglobinuria results as a deficiency in
GP1 unable to anchor DAF And CD59 to RBC to prevent attack by complement
79
Myd88 deficiency 1. effect? 2. sxs?
1. impaired TLR signaling (NOT IN TLR3) | 2. lack fevers, pro inflammatory IFny IL-1 Il-6 LOW
80
which TLR is not affected by Myd88 deficiency?
TLR3

SFM Final (7 decks)

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