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Immunology 2 > Immunodeficiencies > Flashcards

Immunodeficiencies Flashcards

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1
Q

Asplenic patients are especially susceptible to __ bacteria

A

Encapsulated (S. Penumonia, H. Influenzae, Neisseria)

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2
Q

2 Causes of X-Linked Hyper IgM Syndrome

A

(1) CD40 Ligand (T cell function); (2) AID deficiency (isotype swithcing, somatic hypermutation)

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3
Q

2 results of IL-12 signaling deficiency

A

No TH1 response; Much less IFN-gamma than normal patient

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4
Q

3 conditions that cause imaired killing of phagocytosed bacteria

A

(1) Chronic Granulomatous Disease; (2) Glucose-6-P Dehydrogenase Def.; (3) Myeloperoxidase Deficiency

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5
Q

3 Most common Neutropenias

A

(1) Severe Congenital Neutropenia (Kostmann); (2) Cyclic Neutropenia; (3) Benign Chronic Neutropenia

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6
Q

4th clinical finding in Ataxia Telangiectasia

A

Elevated AFP

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7
Q

Absolute NK Cell Deficiency

A

Complete absence of NK and NKT cells or total lack of function

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8
Q

Accumulation of toxic nucleotide catabolites that kills developing B and T cells

A

ADA or Purine Nucleotide Phosphorylase Deficiency

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9
Q

ADA or Purine Nucleotide Phosphorylase Deficiency

A

Accumulation of toxic nucleotide catabolites that kills developing B and T cells

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10
Q

AID deficiency results in

A

X-Linked Hyper IgM Syndrome

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11
Q

AID vs CD40L deficiency

A

AID would be better, could still activate B cells, just no class switching

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12
Q

AIRE

A

Transcription factor that regulates expression of several hundred host-tissue specific genes by epithelial cells in thymic medulla

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13
Q

APECED

A

Genetic deficiency in AIRE (autoimmune regulator gene)

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14
Q

Associated infection with Leukocyte Adhesion Deficiency

A

Encapsulated bacteria

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15
Q

Ataxia Telangiectasia

A

Inherited defect in ATM gene (DNA repair enzyme)

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16
Q

Autoimmune Lymphoproliferative Syndrome (ALPS)

A

Immune cells fail to undergo apoptotic death following an immune response; Mutation in Fas, FasL, or Caspace 10

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17
Q

Bare Lymphocyte Syndrome (Class 1)

A

TAP peptide transporter deficiency

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18
Q

Benign Chronic Neutropenia

A

Low but not life-threatening neutropenia

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19
Q

Catalyzes production of Hypochlorous Acid

A

Myeloperoxidase

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20
Q

Cause of Chronic Mucocutaneous Candidiasis

A

T cell dysfunction

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21
Q

Cause of Paroxymal Nocturnal Hemoglobinuria (PNH)

A

Genetic deficiency of Glycophophatidylinositol, required for CD59 and DAF expression

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22
Q

Cause of Pre-B Cell Receptor Deficiency (gamma5)

A

Genetic mutation in gamma5 gene

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23
Q

Cause of X-Linked Agammaglobulinemia (XLA)

A

Defect in Bruton’s Tyrosine Kinase –> Few B cells

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24
Q

CD3 Deficiency

A

Lack of CD4 or CD8 T cells; Total loss of T cell function

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25
CD40 Ligand defect results in
X-Linked Hyper IgM Syndrome
26
CD8 Alpha chian defect
Same phenotype as TAP transporter deficiency
27
Chediak-Higashi Syndrome
Defect in vesicle fusion --> Impaired phagocytosis; Also partial albinism
28
Chronic Granulomatous Disease
Defective NADPH Oxidase
29
Classical NK Cell Deficiency
Lack NK cells or function. NKT still present
30
Clinical manifestations of Job's syndrome
FATED: coarse or leonine Facies, cold staph Abscesses, retained primary Teeth, increased IgE, Dermatolic (eczema)
31
Clinical triad for IPEX
(1) Watery diarrhea; (2) Eczematous Dermatitis; (3) Endocrinopathy (type 1 diabetes)
32
Clinical Triad of Ataxia Telangiectasia
(1) Cerebellar defects (ataxia); (2) Spider angiomas (Telangiectasia); (3) IgA (or IgE) deficiency
33
Common Gamma Chain Deficiency
Impaired cytokine signaling --> No T cell proliferation
34
Common opportunistic pathogen for NEMO deficiency
Mycobacterium Avium
35
Common Variable Immunodeficiency (CVID)
Group of 150 immunodeficiencies with common features
36
CVID is usually characterised by
Hypogammaglobulinemia
37
Cyclic Neutropenia
Gene defect ELA-2 (elastase); Autosomal dominant
38
Defect in Bruton's Tyrosine Kinase --> Few B cells
Cause of X-Linked Agammaglobulinemia (XLA)
39
Defect in Cytoskeletal reorganization necessary for T cells to deliver cytokines to B cells and macrophages
Wiskott-Aldrich Syndrome
40
Defect in vesicle fusion
Chediak-Higashi
41
Defective CD18 (Integrin expressed by phagocytes)
Leukocyte Adhesion Deficiency
42
Deficiency resulting in Hereditary Angioneurotic Edema
C1INH
43
Delayed detachment of umbilical cord
Special characteristic of Leukocyte Adhesion Deficiency
44
Factor D Deficiency results in susceptibility to
Encapsulated bacteria and Neisseria
45
Factor I Deficiency
Reduced cleavage of C3b or C4b --> High C3 convertase --> C3 is used up
46
Functional NK Cell Deficiency
Normal/near normal numbers, but lack function. Usually don't have NKT cells.
47
Gene abnormality w/ G-CSF or its receptor
Severe Congenital Neutropenia (Kostmann)
48
Gene defect ELA-2; Autosomal dominant
Cyclic Neutropenia
49
Genetic defects that prevent ___ result in SCID
CD4 T cell effector functions
50
Genetic deficiency of FoxP3 expression in T-reg cells --> Autoimmune
IPEX
51
Genetic deficiency of Glycophophatidylinositol, required for CD59 and DAF expression
Paroxymal Nocturnal Hemoglobinuria (PNH)
52
Genetic deficiency of STAT-3 --> reduced IFN-gamma by TH1
Job's Syndrome (Hyper IgE)
53
Glucose-6-P Dehydrogenase Deficiency
Defective respiratory burst
54
IL-12 signaling deficiency
Genetic deficiency of either IL-12 or IL-12 receptor --> No TH1 responses
55
Immune aspect of Ataxia Telangiectasia
Low lymphocyte numbers, Very low IgA or IgE
56
Immune cells fail to undergo apoptotic death following an immune response; Mutation in Fas, FasL, or Caspace 10
Autoimmune Lymphoproliferative Syndrome (ALPS)
57
Impaired cytokine signaling (gamma chain) --> No T cell proliferation
Common Gamma Chain Deficiency
58
Inability of developing be cells to produce pre-receptor --> Apoptotic death
Pre-B Cell receptor Deficiency (gamma5)
59
IPEX
Genetic deficiency of FoxP3 expression in T-reg cells --> Autoimmune
60
Jak3 Deficiency
Impaired cytokine signaling --> No T cell proliferation
61
Job's Syndrome (Hyper IgE)
Genetic deficiency of STAT-3 --> reduced IFN-gamma by TH1 --> High IgE in blood
62
Leukocyte Adhesion Deficiency
Defective CD18 (Integrin expressed by phagocytes)
63
Most common IgG deficiency in adults
IgG3
64
Most common IgG deficiency in kids
IgG2
65
Most common primary immunodeficiency disorder
Common Variable Immunodeficiency (CVID)
66
Most common susceptibility in IL-12 signaling deficiency
Disseminated Mycobacterial Infections
67
Most important IgG deficiency
IgG1 --> Rare
68
Myeloperoxidase Deficiency
Impaired production of toxic oxygen species in macrophages/neutrophils
69
NEMO Deficiency
Defect in IKKgamma (NEMO) required for NFKB activity
70
Nonsense mutation of Perforin
Normal numbers, reduced function of CTL's
71
Omenn Syndrome
Missense mutation that results in partially active RAG enzymes; Absence of B cells; Also, Oligoclonal autoreactive T cells
72
Outcome fo Pre-B cell receptor defiency (gamma5)
Inability of developing be cells to produce pre-receptor --> Apoptotic death
73
Outcome of C1INH deficiency
Overproduction of Anaphylotoxins --> Systemic edema
74
Phagocyte deficiency w/ partial albinism
Chediak-Higashi (vesicle fusion)
75
Primary species in Job's Syndrome
Staph Aureus
76
Purpose of C1INH
Binds to activated C1r:C1s, forcing them to dissociate from C1q (Controls spontaneous activation of C1)
77
Reduced cleavage of C3b or C4b --> High C3 convertase --> C3 is used up
Factor I Deficieny
78
Selective IgA Deficiency
Genetic cause unknown; IgA-specific hypersensitivity following blood transfusions
79
Severe Congenital Neutropenia (Kostmann)
Gene abnormality w/ G-CSF or its receptor; Autosomal dominant
80
Source of Host-specific proteins for presentation during thymic negative selection
AIRE transcription factor in epithelial cells of thymic medulla
81
Special characteristic of Leukocyte Adhesion Deficiency
Delayed detachment of umbilical cord
82
Susceptibilities for NK Cell Deficiencies
Viruses, Mycobacterium, Trichophyton
83
Treatment for NEMO deficiency
Biweekly injections of gamma globulin; Bone marrow transplant
84
Treatment of Omenn Syndrome
Bone Marrow Translpant
85
What does APECED stand for?
Autoimmune Polyendocrinopathy Candidiasis Ectodermal Dystrophy
86
What does IPEX stand for?
Immune Dysregulation, Polyendocrionpathy, Enteropathy, X-Linked Syndrome
87
When does CVID present
2nd or 3rd decade of life
88
Wiskott-Aldrich Syndrome
Cytoskeletal reorganization necessary for T cells to deliver cytokines to B cells and macrophages
89
ZAP-70
TK that associates with ITAMS during signaling via T cell receptor complex
90
ZAP-70 Deficiency
Absence of CD8 T cells; Normal number but non-functional CD4 T cells; = SCID

Immunology 2 (9 decks)

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