Buzzwords 1 Flashcards
(140 cards)
1
Q
Increased synthesis of disorganized collagen (types 1 and 3)
A
Keloid formation
Primary pathogenesis
2
Q
Increased synthesis of parallel (non-disorganized) type 3 collagen
A
Hypertrophic scar formation
Primary pathogenesis
3
Q
Deficient AIRE (autoimmune regulator)
A
Autoimmune polyendocrine syndrome 1
Pathogenesis
4
Q
Expresses tissue-restricted self-antigens in the thymic medulla for negative selection
A
AIRE
Normal function
5
Q
Fas mutation leads to impaired negative selection in the thymic medulla and increased self-reacting lymphocytes
A
Autoimmune lymphoproliferative syndrome
Pathogenesis
6
Q
Deficient FOXP3 (normally regulates Tregs)
A
IPEX
Pathogenesis
7
Q
Increased risk of severe, recurrent pyogenic sinus and respiratory infections, especially with encapsulated organisms
A
C1-C4 (early complement) deficiencies
Presentation
8
Q
Increased susceptibility to recurrent Neisseria bacteremia
A
C5-C9 (late complement) deficiency
Presentation
9
Q
Prevents complement activation on self-cells
A
C1 esterase inhibitor
Function
10
Q
Hereditary angioedema
A
C1 esterase inhibitor deficiency
Presentation
11
Q
Defect in the PIGA gene
A
CD55 (DAF) deficiency
Pathogenesis
12
Q
Paroxysmal nocturnal hemoglobinuria
A
CD55 (DAF) deficiency
Presentation
13
Q
Most common primary immunodeficiency
A
Selective IgA deficiency
Superlative
14
Q
Defect in B-cell DIFFERENTIATION
A
CVID
Pathogenesis
15
Q
Defect in B-cell MATURATION
A
Bruton agammaglobulinemia
Pathogenesis
16
Q
Recurrent bacterial (especially encapsulated) and enteroviral infections PRESENTING AFTER 6 MONTHS
A
Bruton agammaglobulinemia
Presentation
17
Q
Increased susceptibility to Giardia
A
Selective IgA deficiency
Increase susceptibility to what organism?
18
Q
Increased risk of AI disease, bronchiectasis, lymphoma, sinopulmonary infections USUALLY PRESENTING AFTER AGE 2
A
CVID
Presentation
19
Q
Absent B cells in peripheral blood and absent/scanty lymph nodes and tonsils
A
Bruton agammaglobulinemia
Key lab finding
20
Q
Decreased plasma cells
A
CVID
Key lab finding
21
Q
Deletion of 22q11 leads to aberrant/failed development of third and fourth pharyngeal pouches -> absent (or hypoplastic) thymus and parathyroid glands
A
Thymic aplasia (DiGeroge syndrome)
Pathogenesis
22
Q
Decreased Th1 response due to a specific IL-receptor deficiency
A
IL-12 receptor deficiency
Pathogenesis
23
Q
STAT3 mutation -> deficiency of Th17 cells -> impaired recruitment of neutrophils to infection sites
A
Hyper Ig-E syndrome (Job syndrome)
Pathogenesis
24
Q
Presents after BCG vaccination
A
IL-12 receptor deficiency
Presents after what inciting event?
25
Non-inflammed staphylococcal abscesses
Hyper-IgE (Job syndrome)
| Unique presenting symptom
26
Retained primary teeth
Hyper-IgE (Job syndrome)
| Unique presenting symptom
27
Which immunodeficiency requires lifelong antimycobacterial antibiotics?
IL-12 receptor deficiency
| Requires treatment with lifelong ___
28
Adenosine deaminase deficiency
SCID
| Autosomal recessive cause
29
Defective IL-2R gamma chain
SCID
| X-linked recessive cause
30
Defective ATM gene -> failure to detect DNA damage -> failure to halt cell cycle -> accumulation of mutations
Ataxia-telangiectasia
| Pathogenesis
31
Defect in CD40L on Th cells -> class-switching defect
Hyper-IgM syndrome
| Pathogenesis
32
Mutated WASp gene -> abnormal cytoskeleton function in leukocytes and platelets -> defective antigen presentation
Wiskott-Aldrich syndrome
| Pathogenesis
33
DDx - absent or hypoplastic thymus
DiGeorge syndrome
SCID
(Both present with what symptom?)
34
Deficient ADA -> increased dATP -> toxic to lymphocytes
ADA deficiency ( autosomal recessive cause of SCID)
| Pathogenesis
35
Cytokines that mediate cachexia secondary to chronic diseases like cancer, AIDS, HF, COPD, etc.
TNF-alpha, IL-1, IL-6, IFN-gamma
36
Defective LFA-1 integrin (CD18) protein on phagocytes -> impaired phagocyte migration and chemotaxis
Leukocyte adhesion deficiency type 1
| Pathogenesis
37
Decreased Sialyl-Lewis ligands -> impaired margination and rolling of leukocytes
Leukocyte adhesion deficiency type 2
| Pathogenesis
38
Impaired beta-3 integrins on platelets
Leukocyte adhesion deficiency type 3
| Pathogenesis
39
Absent pus
Leukocyte adhesion deficiency type 1
| Unique presenting symptom
40
Which type of leukocyte adhesion deficiency does not present with delayed separation of the umbilical cord?
Leukocyte adhesion deficiency type 2; milder, less severe and fewer infections
41
Increased neutrophils in the blood + absence of neutrophils at infection sites
Leukocyte adhesion deficiency type 1
| Key lab finding
42
Defective LYST gene -> microtubule dysfunction in neutrophil phagosome-lysosome fusion
Chediak-Higashi syndrome
| Pathogenesis
43
Giant granules in granulocytes and platelets (blood smear)
Chediak-Higashi syndrome
| Blood smear finding
44
Partial oculocutaneous albinism
Chediak-Higashi syndrome
| Unique presenting symptom
45
Defective NADPH oxidase -> decreased generation of ROS in phagolyosomes -> decreased respiratory burst in neutrophils -> decreased intracellular killing
Chronic granulomatous disease
| Pathogenesis
46
Abnormal dihydrorhodamine test (decreased green fluorescence)
Chronic granulomatous disease
(Diagnostic test)
*This test measures neutrophil superoxide production
47
Ataxia, telangiectasia (spider angioma), IgA deficiency
Ataxia-telangiectasia
| Triad
48
Thrombocytopenia, eczema, recurrent pyogenic infections that WORSEN WITH AGE
Wiskott-Aldrich syndrome
| Presenting symptoms
49
NO T-cells on flow cytometry
SCID
| Key lab finding
50
Increased AFP (+ decreased IgA, IgE, IgG)
Ataxia-telangiectasis
| Key lab finding
51
Increased (or normal) IgM (+very decreased IgA, IgE, IgG)
Hyper-IgM syndrome
| Key lab finding
52
Increased IgA, IgE (+normal or decreased IgG, IgM)
Wiskott-Aldrich syndrome
53
Decreased T-cell receptor excision circles (TRECs)
SCID
| Key lab finding
54
Curative treatment for SCID?
Bone marrow transplant
| Curative treatment for which immunodeficiency?
55
Recurrent bacterial and fungal infections of the lungs, skin, lymph nodes, and liver, especially with CATALASE POSITIVE ORGANISMS
Chronic granulomatous disease
| Presentation
56
SEVERE recurrent infections with bacteria, fungi, viruses, protozoa; chronic diarrhea, thrush, and failure to thrive
SCID
| Presentation
57
Severe recurrent pyogenic sinopulmonary and GI infections "early," including OPPORTUNISTIC INFECTIONS WITH PJP, CRYPTOSPORIDIUM, AND CMV
Hyper-IgM syndrome
| Presentation
58
Which 2 immunodeficiencies involve recurrent bacterial infections with encapsulated bacteria?
C1-C4 complement deficiency (pyogenic sinopulmonary)
Bruton agammaglobulinemia (also see enterovirus recurrence)
(Shared feature?)
59
Recurrent disseminated mycobacterial infection (and fungal infection)?
IL-12 receptor deficiency
| Presentation
60
Recurrent skin and mucous membrane infection with Candida albicans
Chronic mucocutaneous candidiasis
(Presentation)
Remember, this is a T-cell deficiency
61
T-cells are affected in which 2 immunodeficiencies? What happens to them?
DiGeorge syndrome - decrease in mature T cells
SCID - absent T cells
62
B-cells are affected in which 2 immunodeficiencies? What happens to them?
Bruton - no B cells in the periphery
CVID - decreased plasma cells
63
Which two immunodeficiencies involve a decrease in IFN-gamma?
IL-12 receptor deficiency
Hyper-IgE syndrome (also has increased IgE and eosinophils)
(Shared feature?)
64
DDx - absent germinal centers in lymph nodes (3)
SCID
Bruton agammaglobulinemia
Hyper IgM syndrome
(Shared feature?)
65
Chediak-Higashi syndrome is most commonly diagnosed in ___.
Childhood
| Which immunodeficiency is most commonly diagnosed in childhood?
66
Avoid live vaccination in these two immunodeficiencies
Bruton
SCID
(Shared feature?)
67
Lymph node cluster draining the head and neck?
Cervical
| Drains?
68
Lymph node cluster draining the dorsolateral foot and posterior calf?
Popliteal
| Drains?
69
Lymph node cluster draining the trachea and esophagus?
Mediastinal
| Drains?
70
Lymph node cluster draining the anal canal below the pectinate line, skin below the umbilicus except the popliteal area, scrotum, and vulva
Superficial inguinal
| Drains?
71
Lymph node cluster draining the lungs
Hilar
| Drains?
72
Lymph node cluster draining the lower rectum to the anal canal above the pectinate line, bladder, middle 1/3 of vagina, cervix, prostate
Internal iliac
| Drains?
73
Lymph node cluster draining the upper limb, breast, skin above the umbilicus?
Axillary
| Drains?
74
Lymph node cluster draining the testes, ovaries, kidneys, uterus?
Para-aortic
| Drains?
75
Lymph node cluster draining the liver, spleen, pancreas, stomach, upper duodenum?
Celiac
| Drains?
76
Lymph node cluster draining the lower duodenum, jejunum, ileum, colon to the splenic flexure?
Superior mesenteric
| Drains?
77
Lymph node cluster draining the colon from the splenic flexure to the upper rectum?
Inferior mesenteric
| Drains?
78
What lymph node cluster is a primary lung cancer associated with?
Primary lung cancer
79
Which two lymph node clusters are associated with granulomatous disease?
Mediastinal and hilar
80
What lymph node cluster drains the skin above the umbilicus? Below the umbilicus?
Above - axillary
Below - superficial inguinal (except the popliteal area)
81
Track drainage to lymph node clusters through the GI tract, beginning with the esophagus.
Esophagus - Mediastinal
Stomach - Celiac
Small intestine - Celiac (upper duodenum), Superior mesenteric (lower duodenum through the ileum)
Large intestine - Superior mesenteric (colon to the splenic flexure), Inferior mesenteric (colon from the splenic flexure to the upper rectum)
Rectum - Inferior mesenteric (upper), Internal iliac (lower rectum to the anal canal, aka above the pectinate line), Superficial inguinal (anal canal below the pectinate line)
82
Which lymph node cluster drains the gonads?
Para-aortic (testes, ovaries, uterus)
83
Compare the superficial and deep lymphatic drainage of the lower extremities.
Superficial - follow venous system, drain directly to the superficial inguinal nodes via long saphenous vein (medial extremities)
Deep - follow arterial system, drain into popliteal, then inguinal nodes (lateral extremities)
84
Explain lymph node drainage of the reproductive organs.
Para-aortic - testes, ovaries, uterus
Internal iliac - vagina (middle 1/3), cervix, prostate
Superficial inguinal - scrotum, vulva
Deep inguinal - glans penis, penile urethra
85
Remove encapsulated bacteria
Splenic macrophages
| Unique role
86
Which cell does not express MHC I?
RBCs
87
Structure of MHC I?
1 long chain (A1, A2, A3)
| 1 short chain (B2)
88
Structure of MHC II?
2 equal chains (A1, A2, B1, B2)
89
HLA-A3? (1)
Hemochromatosis
| HLA subtype
90
HLA-B8 (3?)
Addison disease
Myasthenia gravis
Graves disease
(HLA subtype)
91
Mnemonic for HLA-B8?
Don't B late(8), Dr. ADDISON, or else you'll send MY patient to the GRAVE
(Addison disease, Myasthenia gravis, Graves disease)
92
HLA-B27?
Psoriatic arthritis
Ankylosing spondylitis
IBD-associated arthritis
Reactive arthritis
(HLA subtype)
93
HLA-DQ2/DQ8?
Celiac disease
| HLA subtype
94
HLA-DR2?
MS, Hay fever, SLE, Goodpasture syndrome
95
HLA-DR3?
DM1, SLE, Graves disease, Hashimoto thyroiditis, Addison disease
(HLA subtype?)
96
HLA-DR4?
RA, DM1, Addison disease
| HLA subtype?
97
HLA-DR5?
Hashimoto thyroiditis
| HLA subtype?
98
Addison disease - HLA subtypes
B8, DR3, DR4
99
Graves disease - HLA subtypes
B8, DR3
100
SLE - HLA subtypes
DR2, DR3
101
Hashimoto thyroiditis - HLA subtypes
DR3, 5
| "Hashimoto is an ODD DoctoR"
102
DM1 - HLA subtypes?
DR3, 4
103
What activates an NK cell to kill? (3 major things)
1. Non-specific activation signal on target
2. ABSENCE of MHC 1 on target
3. CD16 (on NK) binds Fc region of bound Ig
104
Enteropathy, endocrinopathy, nail dystrophy, dermatitis, other AI dermatologic conditions
IPEX
| General symptoms
105
Associated with DM in male infants
IPEX
106
2 cell signals required for T-cell activation?
1. MHC II (w/Ag) + TCR (CD4) or MHC I (w/Ag) + TCR (CD8)
| 2. Costimulatory B7 protein (CD80/86) + CD28 (T cell)
107
2 cell signals required for B-cell activation?
1. TCR (activated Th cell) + MHC II (w/Ag)
| 2. CD40L (Th cell) + CD40 (B cell)
108
Ab in breast millk?
IgA
109
Role of C3b?
Opsonization (also IgG)
110
Roles of C3a, C4a, C5a?
Anaphylaxis
111
Roles of C5b-9?
Cytolysis by MAC
112
Fever and sepsis?
IL-1, IL-6, TNF-alpha
113
Maintains granulomas in TB?
TNF-alpha
114
Cause of green sputum?
Myeloperoxidase (blue-green heme-containing pigment)
115
NK cells:
Activated by?
Secrete?
Activated by IL2, IL12, IFN-alpha, IFN-beta
Secrete IFN-gamma
116
Th1 cells:
Activated by?
Inhibited by?
Secrete?
Activated by IL-12, IFN-gamma
Inhibited by IL-4, IL-10
Secrete IFN-gamma
117
Th2 cells:
Activated by?
Inhibited by?
Secrete?
Activated by IL-2, IL-4
Inhibited by IFN-gamma
Secreted IL-4, 5, 6, 10, 13
118
Th17 cells:
Activated by?
Inhibited by?
Secrete?
Activated by IL1, IL-6, TGF-beta
Inhibited by: IL-4, IFN-gamma
Secrete IL-17, IL-21, IL-22
119
Treg cells:
Activated by?
Inhibited by?
Secrete?
Activated by IL-2, TGF-beta
Inhibited by IL-6
Secrete IL-10, IL-35, TGF-beta
120
Macrophages secrete?
IL-1, IL-6, IL-8, IL-12, INF-alpha
121
What do all T-cells secrete?
IL-2, IL3
122
Purpose of IL-17, 21, 22?
Activate neutrophils to attack extracellular microbes
123
Stimulates production of acute phase proteins
IL-6
124
Stimualtes vascular leak?
TNF-alpha
125
Class switching to IgG and IgE?
IL-4
126
Class switching to IgA?
IL-5
127
CD25?
Treg
128
CD19, CD20, CD21, CD40?
B cells
129
Macrophage CDs?
CD14 (PAMP receptor), CD40, CCR5, MHC II, B7 (CD 80/86), Fc and C3b receptors
130
NK cell CDs?
CD16, CD56
131
Hematopoietic stem cells CD?
CD34
132
Passive vs. active - anti-toxin vs. toxoid?
Passive - anti-toxin
| Active - toxoid
133
When are patients given preformed antibodies (passive)?
After exposure to Tetanus toxin, Botulinum toxin, HBV, Varicella, Rabies virus, or diphtheria toxin
"To Be Healed Very Rapidly or Die"
134
When are patients given combined passive and active immunization?
Hepatits B and Rabies
135
2 toxoid vaccines?
C. tetani
| C. diphtheriae
136
Ab-mediated HSN rxns? Which Ab?
I - IgE
II - IgG/IgM
III - Ag-Ab complexes (mostly IgG)
137
Complement-mediated HSN rxns?
II, III
138
Which hypersensitivity reactions involve neutrophils?
II, III
139
Which hypersensitivity reaction involves T cells?
IV
140
Which hypersensitivity reactions involve macrophages?
II, IV
