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Inherited Immunodeficiencies Flashcards

1
Q

Asplenia vulnerability

A

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

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2
Q

Asplenia treatment

A

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

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3
Q

Phagocyte defects vulnerability

A

Clearing bacterial infections

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4
Q

Leukocyte adhesion deficiency vulnerability

A

widespread encapsulated bacteria infection

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5
Q

CGD defect

A

NADPH oxidase

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6
Q

CGD vulnerability

A

chronic fungal & bacterial infections; GRANULOMAS

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7
Q

MPO deficiency vulnerability

A

chronic fungal and bacterial infections

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8
Q

MPO deficiency cells affected

A

neutrophils (granules) and macrophages (lysosomes)

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9
Q

G6PD deficiency mech

A

impaired respiratory burst

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10
Q

G6PD deficiency vulnerability

A

chrobic bacterial and fungal infections; anemia from some agents

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11
Q

Chedak-Higashi defect

A

vesicle fusion in phagocytosis

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12
Q

Chedak-Higashi vulnerability

A

recurrent fungal and bacterial; granulomas

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13
Q

Kostmann syndrome is…

A

Neutropenia

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14
Q

Kostmann syndrome defect

A

G-CSF (granulocyte colony stimulating factor)

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15
Q

NK cell deficiencies - presentation

A

recurrent viral infections (esp. chickenpox/shingles)

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16
Q

NK cell defects - 3

A

cytoplasm granule formation; perforin; bone marrow NK cell development

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17
Q

NEMO - what is it?

A

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

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18
Q

NFkB - what is it?

A

transcription factor activated by TLRs

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19
Q

NEMO signs

A

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

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20
Q

NEMO vulnerabilities

A

bacterial & viral infections, esp. mycobaterium avium

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21
Q

NEMO deficiency treatment

A

Biweekly inj of gamma glob; bone marrow transplant

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22
Q

Complement deficiencies - general vulnerability

A

extracellular bacteria

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23
Q

Complement receptor deficiency - general vulnerability and why

A

encapsulated bacteria (C3 depleted)

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24
Q

C1,C2,C4 deficiency vulnerability

A

Immune-complexes

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25
Q

C3 deficiency vulnerability

A

encapsulated bacteria

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26
Q

C5-9 deficiency vulnerability

A

Neisseria

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27
Q

Factor D & Factor P deficiency vulnerability

A

encapsulated bacteria; Neisseria

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28
Q

Factor I deficiency vulnerability

A

encapsulated bacteria

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29
Q

DAF & CD59 deficiency vulnerability

A

autoimmune-like

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30
Q

C1INH deficiency leads to

A

HANE (systemic edema due to anaphylatoxin overproduction)

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31
Q

MBL deficiency vulnerability

A

recurrent severe infections

32
Q

C1INH deficiency treatment

A

Monthly inj of C1INH

33
Q

PNH - what is it?

A

Paroxymal nocturnal hemoglobinuria

34
Q

PNH signs

A

autoimmune hemolytic anemia; red urine; thrombosis

35
Q

PNH defect

A

glycophosphatidylinositol (needed by DAF and CD59 to regulate MAC)

36
Q

PNH treatment

A

Bone marrow transplant; C5 monoclonal Ab helps too

37
Q

Antibody deficiency treatment

A

Monthly inj of gamma globulin

38
Q

Antibody deficiency vulnerability

A

Extracellular bacteria, especially encapsulated bacteria

39
Q

XLA defect

A

BtK enzyme (needed for B cell dev)

40
Q

XLA defect result

A

Almost no humoral immune system

41
Q

Pre-BCR deficiency - part affected?

42
Q

Pre-BCR deficiency mech

A

B cell cannot generate BCR so undergoes apoptosis

43
Q

X-linked IgM syndrome defect (2 causes)

A

CD40 ligand, or AID deficiency (needed for class switching)

44
Q

X-linked IgM syndrome vulnerability

A

No class switching; vulnerable to intracellular bacteria

45
Q

Selective IgA deficiency vulnerability

A

Healthy unless exposed to parasites

46
Q

Selective IgG deficiency - IgG1

A

bacteria and viruses (ADCC issue)

47
Q

Selective IgG deficiency - IgG2

A

Encapsulated bacteria (IgG2 role in complement)

48
Q

Selective IgG deficiency - IgG3

A

Most common in adults

49
Q

Selective IgG deficiency - IgG4

50
Q

CVID - describe

A

a group of ~150 primary immunodeficiencies that usually includes reduced antibodies

51
Q

CVID - onset

A

Genetic, 20s or 30s

52
Q

TAP deficiency mech

A

Low MHC I functionality so defective response to IC pathogens

53
Q

TAP deficiency in number of these cells and why

A

CD8+ cells are low because not positively selected in thymus

54
Q

CD8 alpha-chain defect is similar to

A

TAP deficiency

55
Q

Nonsense mutation of perforin consequences

A

Low CTL levels, normal CD8+ levels, CTLs cannot cause apoptosis on targets

56
Q

Can CD4+ defects cause SCID?

57
Q

“Bare lymphocyte” MHC II issue

A

Lack MHC II expression and low CD4 cells…

58
Q

Wiskott-Aldrich syndrome defect

A

Defect in cytoskeleton reorganizing needed for T cells to deliver cytokines to B cells and macrophages - “cell cross-talk deficiency”

59
Q

Common gamma-chain defect

A

Impaired IL signaling - failure of T cell proliferation so no T cell effectors

60
Q

JAK3 deficiency

A

No effector T cells

61
Q

CD3 deficiency

A

Lack of CD4 and CD8 T cells - total T cell LOF

62
Q

Omenn syndrome defect

A

Partially active RAG -> absent B cells; also no T cell function

63
Q

Omenn syndrome symptoms

A

erythoderma; desquamation, alopecia…

64
Q

DiGeorge syndrome defect

A

Chromosome 22 microdeletion

65
Q

Complete DiGeorge defect

A

very few T cells

66
Q

Complete DiGeorge treatment

A

thymic transplant

67
Q

ZAP-70 defect

A

tyrosine kinase involved in TCR signaling is messed up, leading to no CD8 T cells but normal levels of nonfunctional CD4

68
Q

APECED defect

A

AIRE - tf that regulates expression of thymic medulla negative selection proteins - develop autoimmune responses as a result

69
Q

APECED presentation

A

hypoparathyroid; hypogonadism

70
Q

IPEX defect

A

FoxP3 in CD4+ cells leads to no Treg function

71
Q

IPEX presentation triad

A

1) watery diarrhea; 2) eczema; 3) DM type I

72
Q

IPEX treatment

A

immunosuppression; bone marrow transplant

73
Q

ALPS signs

A

Lymphadenopathy; splenomegaly; neutropenia; thrombocytopenia (low platelets)

74
Q

ALPs possible mutations in…

A

Fas, FasL, or caspase 10

75
Q

ALPs effects on immune cells

A

High CD4 and CD8 concentrations

76
Q

ALPS stands for

A

Autoimmune lymphoproliferative syndrome

Immunology (3 decks)

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