SFM quiz 2 diseases Flashcards
(99 cards)
1
Q
Hereditary nonpolyposis colorectal cancer
A
Mismatch repair defect
Defect is at: MSH2,3,6, MLH1, PMS2
Presents with colon cancer
2
Q
Xeroderma Pigmentosum groups A-G
A
Nucleotide excision repair defect
Presents with skin cancer, UV sensitivity, neurological issues.
3
Q
Cockayne Syndrome
A
Caused by transcription-coupled repair
RNA polymerase permanently stalled at transcriptions site.
Skeletal abnormalities, growth retardation, sunlight sensitivity
4
Q
Ataxia Telangiectasia
A
ATM protein action and double strand DNA breaks, causes protein kinase A activation
Leukemia, lymphoma, genome instability
5
Q
BRCA2
A
Caused by DNA inter stand cross-link repair defect
Breast cancer, leukemia, congenital abnormalities
6
Q
Sickle cell anemia
A
missense mutation in HBb hemoglobin. Trades Glu for Val.
Causes thin sickle shape with low O2 capacity.
7
Q
Duchenne Muscular Dystrophy
A
Frameshift mutation. NO expression of dystrophin protein.
Muscle wasting and weakness.
8
Q
Becker Muscular Dystrophy
A
Little expression of dystrophin protein. Less severe than DMS>
9
Q
Streptomycin
A
30S subunit.
Doesn’t allow fMet-tRNA to bind to subunits
10
Q
Clindamycin and erythromycin
A
50S subunit
stops translocation
11
Q
Tetracyclins
A
30S subunit
stops translocation
12
Q
Chloramphenicol
A
Inhibits peptidyl transferase
13
Q
Puromycin
A
premature chain termination (elongation)
14
Q
Diphtheria Toxin
A
inactivates EF2-GTP for translocation
15
Q
Shiga Toxin and Ricin
A
binds to 60S subunit to disrupt elongation.
Blocks aminoacyl-tRNA from entering A site.
16
Q
Cycloheximide
A
Inhibits peptidyl transferase
17
Q
I-cell disease
A
Lysosomal disorder caused by improper mannose 6-phosphate tagging.
Presents as abnormal skeletal development, respiratory infections.
18
Q
Alzheimer’s disease
A
caused by amyloid beta-peptide. Causes misfiles, forming Ab plaques on neurons. Familial form: caused by hyperphosphorylation of Tau protein.
19
Q
Parkinson’s disease
A
Caused by alpha-synuclein (AS) aggregating.
Makes Lewy bodies in dopaminergic neurons.
Movement and cognitive impairment
20
Q
Huntington’s disease
A
caused by Huntingtin gene mutation, increase in CAG triplet repeats.
Seen using Variable Number Tandem Repeats.
Causes selective death of base ganglia cells.
Loss of movement and cognitive function.
21
Q
Creutzfeldt-Jacob Disease
A
caused by misfolds, forms prions that are transmissible.
Presents as failing memory and behavioral changes.
22
Q
Hypophosphatemia
A
curved arm bones. X-linked dominant
23
Q
Leber’s hereditary optic neuropathy
A
degeneration of retinal ganglion cells.
Mitochondrial inheritance.
24
Q
MELAS
A
caused by mutation in gene for tRNA for lysine (mitochondrial inheritance)
Disrupts cytochrome-C oxidase.
25
Uniparental Disomy
caused by trisomy caused by nondisjunction, then both chromosomes for zygote are picked from same parent.
26
Prader-Willi syndrome
deletion of paternal chromosome 15.
Presents as obesity, constant eating, intellectual disability.
27
Angelman Syndrome
Deletion of maternal chromosome 15.
| Presents as ataxic gait and severe intellectual disability.
28
Turner syndrome
XO
| females only, short stature, few go through puberty
29
Klinefelter Syndrome
XXY
| presents as typically tall with hypogonadism
30
Downs Syndrome
Trisomy 21.
Translocation error, chance increases with maternal age.
cardiac defects, duodenal atresia, intellectual disabilities.
31
Edward's syndrome
Trisomy 18.
| rocker bottom feet, cleft lip, microencephaly.
32
Patau Syndrome
Trisomy 13.
| Deformed face and cleft lip, CNS dysfunction, kidney issues.
33
Retinoblastoma
degeneration of retinal cells.
| 90% penetrance
34
Osteogenesis Imperfecta
Locus Heterogeneity--> multiple loci can cause the phenotype, but only one needs to be mutated for it to happen
35
Neurofibromatosis
develop tumor-like growths on skin, looks more like big patches of darkened skin
36
Marfan Syndrome
Affects connective tissues, many presentations
37
Pyloric stenosis
Displays threshold of liability. males at greater risk due to lower threshold of liability.
38
Pertussis toxin
prevents activation of Gi ADP riboslyation
| causes overproduction of cAMP
39
HIV
Confirmed using western blotting.
| uses indirect ELISA
40
Sickness behavior syndrome
caused by release of TNF-alpha, IL-1, Il-6
| presents as typical sick symptoms
41
Meningitis
Viral or bacterial.
| Bacterial is life threatening--> streptococcus Pneumoniae and Neisseria meningitides
42
Complement deficiency and N meningitidis
susceptible due to MAC formation or AP issues.
CH50: tests classical and terminal
AH50: tests alternate and terminal
43
Systemic Lupus Erythematosis
caused by C3 and C5 attaching to kidneys
causes increase in ROIs and inflammatory cytokines--> alters kidney function.
Results in HTN and edema, with proteinuria and rash
44
Hereditary Angioedema
caused by defect in C1 inhibitor, causing swelling diffusely
swelling in airway, abd pain
45
Paroxysmal Nocturnal Hemoglobinuria
caused by deficiency is glycosylphosphatidylinositol. Used for DAF and CD59, which inhibit complement.
46
Ankylosing Spondylitis
Caused be HLA-B27 not being able to bind.
| Inflammation of the spine
47
Rheumatic Fever
Ab from streptococcus progenies infections react with cardiac tissue.
HLA-DR4
48
Sjogren's syndrome
HLD-DR3
| salivation and lacrimation defect
49
Psoriasis
HLA-B3 association.
50
Neuroblastoma
Class 1 Ag-processing defect in renal cell carcinomas. caused by tissue with TAP in processing intracellular pathogens
51
Bare Lymphocyte syndrome
caused by TAP being nonfunctional.
Class 1 MHC can't leave ER
Chronic respiratory infections, poor viral response.
52
Bare lymphocyte syndrome class 2
caused by deficiency in HLA class 2 expression.
transactivator CIITA is faulty.
Severe recurrent infections.
53
SCID
severe T cell and B cell deficiencies and sometimes NK cells.
Fetus with SCIDs is at risk for abortion bc they cannot reject maternal T cells that cross placenta.
54
Adenosine Deaminase (ADA) deficiency
T-B-NK-
Low IgG, IgA, IgM
autosomal recessive
ADA is essential for metabolic function of various cells, especially T Cells.
Leads to toxic accumulation of deoxyadenosine.
55
Purine Nucleotide Phosphorylase (PNP) deficiency
T-B+NK+-
Autosomal Recessive
Leads to intracellular deoxyguanosine triphosphate dGTP, leading to to decreased peripheral T Cells.
Hemolytic anemia, thyroid disease, arthritis, lupus
56
Artemis Deficiency
T-B-NK+
Autosomal recessive radiosensitive
Infants with: diarrhea, candidiasis, pneumocystis jiroveci pneumonia.
Increased risk of developing lymphomas.
57
RAG1/RAG2 deficiency
T-B-NK+
Low IgG, IgA, IgM.
Impaired VDJ recombination leads to defective expression of pre-TCR and pre-BCR.
Infants with: diarrhea, candidiasis, pneumocystis jiroveci pneumonia.
58
Deficiency of JAK 3
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T-B+NK-
Low IgG, IgA, IgM.
Autosomal recessive.
Mutation in a gene that encodes a lymphocyte Janus Kinase 3.
Boys and girls equally.
Defect in IL-2 receptor signaling.
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59
Agammaglobulinemia
Most commonly inherited as X-linked trait, but can be autosomal recessive.
Early B cell development is arrested at preB cell stage--> Circulating B cells are usually absent.
60
X-Linked Btk Kinase Deficiency
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B-T+NK+
No IgG, IgM, IgA.
In males.
Defect in rearrangement of Ig heavy chain genes.
Diagnosed in infants 5-6 months.
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61
Isolated IgG subclass Deficiencies
B+T+NK+
Some IgG subclasses low: normal IgM, IgA, IgE
Decreased concentrations of one or more IgG subclass.
Caused by defects in several genes.
Associated with recurrent viral/bacterial infections.
Low levels of IgG2, varying levels of IgG4
62
IgA Deficiency
B+T+NK+
No IgA; normal IgG and IgM
Recurrent infections, typically with encapsulated bacteria.
Patients often develop autoimmune Diseases and allergy.
63
Non-IgE mediated anaphylaxis
patients have undetectable IgA levels due to serum anti-IgA IgG, in response to intravenous immunoglobulin transfusion.
64
DiGeorge Syndrome (DGS)
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T-B+NK+
Normal IgG, IgA, IgM
micro deletion of 22q11.2 region.
Low T cell numbers.
Frequent respiratory infections, cardiac anomalies, hypocalcemia, hypoplastic thymus.
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Live vaccines can be given to patients who have CD8 T cell counts above 300
65
Hyper IgM syndrome
B+T+NK+
High IgM; low IgG and IgA
Increased susceptibility to bacterial infection.
Impaired Ig class switching.
X-Linked: CD40L males only
Autosomal recessive: CD40 males and females
66
Transient Hypogammaglobulinemia of Infancy
B+T+NK+
Low IgG/IgA: IgM normal
Intrinsic Ig production is delayed for up to 36 months.
Increased susceptibility to sinopulmonary infections.
67
Common Variable Immune Deficiency (CVID)
Heterogeneous group of diseases associated with hypogammaglobulinemia.
Mutations in receptors for B cell growth factors and costimulators.
Autosomal disorder.
B cells fail to differentiate into plasma cells.
Onset is usually after 4-5 years old.
68
Common gamma chain deficiency (gamma C or IL-2Rgamma)
T-B+NK-
Very low IgG, IgA, IgM
X Linked recessive.
Gene encodes gamma-chain shared by T cell growth factor receptor (IL-2Rgamma)
No functional B cells bc no T helper cells.
Failure to thrive, severe thrush, opportunistic infections, chronic diarrhea
69
IL-7R alpha chain deficiency
T-B+NK+
Very low IgG, IgA, IgM
Autosomal recessive.
Ig Levels are low to absent (B cells are there but don't get costimulatory signal due to T cell absence)
Candidiasis, chronic diarrhea, Pneumocystis jiroveci pneumonia, severe viral infections.
70
Bare Lymphocyte syndrome Type 2
T+B+NK-
autosomal recessive
NO MHC 2 expression on APCs, leads to deficiency in CD4+.
Mutations occur in genes for transcription factors that regulate expression of MHC 2 genes.
Recurrent respiratory, GI, UT, infections, death in early childhood.
71
MHC class 1 deficiency
T+B+NK-
mutation in TAP1 molecules to transfer peptides to ER.
CD8+ cells are deficient leading to recurrent viral infections.
72
CD3 Complex deficiencies
T-B+NK+
low IgG, IgA, IgM
autosomal recessive deficiencies of CD3 subunits.
Lymphopenia, decreased T cell numbers, failure to thrive, opportunistic infections, chronic diarrhea.
73
Th17 deficiencies
susceptibility to chronic mucocutaneous candidiasis.
Mutations in IL-17, IL-17R, STAT1, STAT2, AIRE
atopic disease (asthma, allergies), recurrent staph skin abscesses.
74
IPEX
X-linked.
self reactive effector T cells cannot be inhibited, bc of mutation in FOXP3--> loss of inhibition by CD4+CD25+ Treg cells.
75
ALPS
defects in Fas, FasL, caspase-8, caspase-10 genes results in abrogated formation of death-inducing signaling complex and resistance of effector T cells to apoptosis.
76
Wiskott-aldrich syndrome (WAS)
T-B+NK-
Low IgM; normal IgG, elevated IgA and IgE
X-linked
Thrombocytopenia, eczema, cellular immunodeficiency
Mutations in WASP
Recurrent bacterial infections w/ encapsulated bacteria, viral infections
77
NK cell deficiency
Classical NKD: absence of NK cells.
Functional NKD: presence of NK cells exhibiting defective NK cell activity
multiple severe or disseminated viral infections--> herpes.
78
Leukocyte adhesion deficiency
Defective CD18--> defective migration of phagocytes into infected tissue. Infections with capsulated bacteria.
Innate immunity. twice the amount of neutrophils
79
Chronic granulomatous disease (CDG)
Defective NADPH oxidase. Phagocytes cannot produce O2. Cant kill phagocized bacteria. Chronic bacterial and fungal infections.
Innate immunity
80
Glucose-6-phosphate dehydrogenase (G6DP) deficiency
deficiency of G6PD. defective respiratory burst. can't kill phasocytosed bacteria. Chronic bacterial and fungal infections. Anemia is induced.
Innate immunity
Xlinked recessive
81
Myeloperoxidase deficiency
deficiency of myeloperoxidase in neutrophil granules and macrophage lysosomes and impaired production of toxic oxygen. Cant kill phagocytksed bacteria. Chronic bacteria and fungal infections.
82
Chediak-higashi syndrome
defect in vesicle fusion. Impaired phagocytosis due to inability of endoscope to fuse with lysosome. Recurrent and persistent bacterial infections.
Innate immunity.
End up wheel chair bound. Granulomas. partial albinism.
NO NK activity
83
Clinical manifestations of Leukocyte adhesion deficiencies
delayed detachment of umbilical cord.
Slow wound healing.
Severe bacterial infections.
Failure to form pus.
early death.
84
C8 complement deficiencies
autosomal recessive.
increased susceptibility to Neisserial infections.
Diagnosis: absent C8 levels in presence of normal C3, C4
85
MyD88 deficiency
innate immunity. impaired signaling for all TLRs except TLR3.
86
Asthma
Type 1 Hypersensitivity.
| Airway obstruction caused by release of inflammatory mediators
87
Anaphylaxis
Type 1 Hypersensitivity.
massive release of vasoactive amines and cytokines: smoother muscle contraction, vasodilation of capillaries, drop in blood pressure.
88
Graves disease
Type 2 hypersensitivity
| Stimulates the activity of thyroid-stimulating hormone receptors even in the absence of hormone causing hyperthyroidism
89
Myasthenia Gravis
Type 2 hypersensitivity
| Inhibits binding of acetylcholine neurotransmitter to ACh receptor
90
Hemolytic disease of Newborn
Type 2 hypersensitivity
| occurs in second pregnancy--> mom makes anti-Rh antibodies that cross placenta and destroy fetal blood cells.
91
Hemolytic Anemia
Type 2 hypersensitivity
| Opsonization and phagocytosis of erythrocytes
92
Transfusion reaction
Type 2 hypersensitivity
| IgM antibodies opsonize and lyse blood cells by complement
93
Serum sickness
Type 3 hypersensitivity
| vasculitis, nephritis, arthritis
94
Arthus reaction
Type 3 hypersensitivity
SubQ administration of antigen to previously immunized. Cutaneous vasculitis.
Local reaction--> everything is recruited to site of issue.
95
Contact dermatitis with Poison ivy
Type 4 hypersensitivity.
96
Type 4 hypersensitivities
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Multiple sclerosis
Rheumatoid arthritis
Type 1 Diabetes
Crohn's
Contact sensitivity
Tuberculosis
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97
Type 3 hypersensitivities
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Systemic lupus erythematosis
Polyarteritis nodosa
Glomerulonephritis
Serum sickens
Arthus reaction
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98
Type 2 hypersensitive
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hemolytic anemia
thrombocytopenic
goodpastuers syndrome
graves
myasthenia gravis
Rheumatic fever
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99
Type 1 hypersensitivities
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anaphylaxis
urticaria
rhinitis
asthma
food allergy
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