Brainscape's Knowledge GenomeTM


Top Flashcards (Certified)
All Flashcards

Immunology > Inherited Immunodeficiencies > Flashcards

Inherited Immunodeficiencies Flashcards

(76 cards)

Start Studying
1
Q

Asplenia vulnerability

A

Encapsulated bacteria, esp. sepsis due to (no spleen macros to clean blood)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
2
Q

Asplenia treatment

A

Vaccinations against encapsulated bacteria; prophylactic antibiotics before dentist and @ first sign of infection

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
3
Q

Phagocyte defects vulnerability

A

Clearing bacterial infections

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
4
Q

Leukocyte adhesion deficiency vulnerability

A

widespread encapsulated bacteria infection

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
5
Q

CGD defect

A

NADPH oxidase

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
6
Q

CGD vulnerability

A

chronic fungal & bacterial infections; GRANULOMAS

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
7
Q

MPO deficiency vulnerability

A

chronic fungal and bacterial infections

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
8
Q

MPO deficiency cells affected

A

neutrophils (granules) and macrophages (lysosomes)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
9
Q

G6PD deficiency mech

A

impaired respiratory burst

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
10
Q

G6PD deficiency vulnerability

A

chrobic bacterial and fungal infections; anemia from some agents

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
11
Q

Chedak-Higashi defect

A

vesicle fusion in phagocytosis

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
12
Q

Chedak-Higashi vulnerability

A

recurrent fungal and bacterial; granulomas

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
13
Q

Kostmann syndrome is…

A

Neutropenia

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
14
Q

Kostmann syndrome defect

A

G-CSF (granulocyte colony stimulating factor)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
15
Q

NK cell deficiencies - presentation

A

recurrent viral infections (esp. chickenpox/shingles)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
16
Q

NK cell defects - 3

A

cytoplasm granule formation; perforin; bone marrow NK cell development

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
17
Q

NEMO - what is it?

A

protein required for NFkB activity, which is important for innate immunity and development)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
18
Q

NFkB - what is it?

A

transcription factor activated by TLRs

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
19
Q

NEMO signs

A

developmental; deep-set eyes; fine hair; bad teeth; blistering

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
20
Q

NEMO vulnerabilities

A

bacterial & viral infections, esp. mycobaterium avium

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
21
Q

NEMO deficiency treatment

A

Biweekly inj of gamma glob; bone marrow transplant

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
22
Q

Complement deficiencies - general vulnerability

A

extracellular bacteria

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
23
Q

Complement receptor deficiency - general vulnerability and why

A

encapsulated bacteria (C3 depleted)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
24
Q

C1,C2,C4 deficiency vulnerability

A

Immune-complexes

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
25
C3 deficiency vulnerability
encapsulated bacteria
26
C5-9 deficiency vulnerability
Neisseria
27
Factor D & Factor P deficiency vulnerability
encapsulated bacteria; Neisseria
28
Factor I deficiency vulnerability
encapsulated bacteria
29
DAF & CD59 deficiency vulnerability
autoimmune-like
30
C1INH deficiency leads to
HANE (systemic edema due to anaphylatoxin overproduction)
31
MBL deficiency vulnerability
recurrent severe infections
32
C1INH deficiency treatment
Monthly inj of C1INH
33
PNH - what is it?
Paroxymal nocturnal hemoglobinuria
34
PNH signs
autoimmune hemolytic anemia; red urine; thrombosis
35
PNH defect
glycophosphatidylinositol (needed by DAF and CD59 to regulate MAC)
36
PNH treatment
Bone marrow transplant; C5 monoclonal Ab helps too
37
Antibody deficiency treatment
Monthly inj of gamma globulin
38
Antibody deficiency vulnerability
Extracellular bacteria, especially encapsulated bacteria
39
XLA defect
BtK enzyme (needed for B cell dev)
40
XLA defect result
Almost no humoral immune system
41
Pre-BCR deficiency - part affected?
Gamma-5
42
Pre-BCR deficiency mech
B cell cannot generate BCR so undergoes apoptosis
43
X-linked IgM syndrome defect (2 causes)
CD40 ligand, or AID deficiency (needed for class switching)
44
X-linked IgM syndrome vulnerability
No class switching; vulnerable to intracellular bacteria
45
Selective IgA deficiency vulnerability
Healthy unless exposed to parasites
46
Selective IgG deficiency - IgG1
bacteria and viruses (ADCC issue)
47
Selective IgG deficiency - IgG2
Encapsulated bacteria (IgG2 role in complement)
48
Selective IgG deficiency - IgG3
Most common in adults
49
Selective IgG deficiency - IgG4
Unknown
50
CVID - describe
a group of ~150 primary immunodeficiencies that usually includes reduced antibodies
51
CVID - onset
Genetic, 20s or 30s
52
TAP deficiency mech
Low MHC I functionality so defective response to IC pathogens
53
TAP deficiency in number of these cells and why
CD8+ cells are low because not positively selected in thymus
54
CD8 alpha-chain defect is similar to
TAP deficiency
55
Nonsense mutation of perforin consequences
Low CTL levels, normal CD8+ levels, CTLs cannot cause apoptosis on targets
56
Can CD4+ defects cause SCID?
Yes
57
"Bare lymphocyte" MHC II issue
Lack MHC II expression and low CD4 cells...
58
Wiskott-Aldrich syndrome defect
Defect in cytoskeleton reorganizing needed for T cells to deliver cytokines to B cells and macrophages - "cell cross-talk deficiency"
59
Common gamma-chain defect
Impaired IL signaling - failure of T cell proliferation so no T cell effectors
60
JAK3 deficiency
No effector T cells
61
CD3 deficiency
Lack of CD4 and CD8 T cells - total T cell LOF
62
Omenn syndrome defect
Partially active RAG -> absent B cells; also no T cell function
63
Omenn syndrome symptoms
erythoderma; desquamation, alopecia...
64
DiGeorge syndrome defect
Chromosome 22 microdeletion
65
Complete DiGeorge defect
very few T cells
66
Complete DiGeorge treatment
thymic transplant
67
ZAP-70 defect
tyrosine kinase involved in TCR signaling is messed up, leading to no CD8 T cells but normal levels of nonfunctional CD4
68
APECED defect
AIRE - tf that regulates expression of thymic medulla negative selection proteins - develop autoimmune responses as a result
69
APECED presentation
hypoparathyroid; hypogonadism
70
IPEX defect
FoxP3 in CD4+ cells leads to no Treg function
71
IPEX presentation triad
1) watery diarrhea; 2) eczema; 3) DM type I
72
IPEX treatment
immunosuppression; bone marrow transplant
73
ALPS signs
Lymphadenopathy; splenomegaly; neutropenia; thrombocytopenia (low platelets)
74
ALPs possible mutations in...
Fas, FasL, or caspase 10
75
ALPs effects on immune cells
High CD4 and CD8 concentrations
76
ALPS stands for
Autoimmune lymphoproliferative syndrome

Immunology (3 decks)

Brainscape helps you reach your goals faster, through stronger study habits.
© 2025 Bold Learning Solutions. Terms and Conditions