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SFM Quiz 2 diseases > SFM quiz 2 diseases > Flashcards

SFM quiz 2 diseases Flashcards

1
Q

Hereditary nonpolyposis colorectal cancer

A

Mismatch repair defect
Defect is at: MSH2,3,6, MLH1, PMS2
Presents with colon cancer

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2
Q

Xeroderma Pigmentosum groups A-G

A

Nucleotide excision repair defect

Presents with skin cancer, UV sensitivity, neurological issues.

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3
Q

Cockayne Syndrome

A

Caused by transcription-coupled repair
RNA polymerase permanently stalled at transcriptions site.
Skeletal abnormalities, growth retardation, sunlight sensitivity

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4
Q

Ataxia Telangiectasia

A

ATM protein action and double strand DNA breaks, causes protein kinase A activation
Leukemia, lymphoma, genome instability

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5
Q

BRCA2

A

Caused by DNA inter stand cross-link repair defect

Breast cancer, leukemia, congenital abnormalities

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6
Q

Sickle cell anemia

A

missense mutation in HBb hemoglobin. Trades Glu for Val.

Causes thin sickle shape with low O2 capacity.

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7
Q

Duchenne Muscular Dystrophy

A

Frameshift mutation. NO expression of dystrophin protein.

Muscle wasting and weakness.

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8
Q

Becker Muscular Dystrophy

A

Little expression of dystrophin protein. Less severe than DMS>

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9
Q

Streptomycin

A

30S subunit.

Doesn’t allow fMet-tRNA to bind to subunits

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10
Q

Clindamycin and erythromycin

A

50S subunit

stops translocation

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11
Q

Tetracyclins

A

30S subunit

stops translocation

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12
Q

Chloramphenicol

A

Inhibits peptidyl transferase

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13
Q

Puromycin

A

premature chain termination (elongation)

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14
Q

Diphtheria Toxin

A

inactivates EF2-GTP for translocation

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15
Q

Shiga Toxin and Ricin

A

binds to 60S subunit to disrupt elongation.

Blocks aminoacyl-tRNA from entering A site.

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16
Q

Cycloheximide

A

Inhibits peptidyl transferase

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17
Q

I-cell disease

A

Lysosomal disorder caused by improper mannose 6-phosphate tagging.
Presents as abnormal skeletal development, respiratory infections.

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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.

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19
Q

Parkinson’s disease

A

Caused by alpha-synuclein (AS) aggregating.
Makes Lewy bodies in dopaminergic neurons.

Movement and cognitive impairment

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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.

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21
Q

Creutzfeldt-Jacob Disease

A

caused by misfolds, forms prions that are transmissible.

Presents as failing memory and behavioral changes.

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22
Q

Hypophosphatemia

A

curved arm bones. X-linked dominant

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23
Q

Leber’s hereditary optic neuropathy

A

degeneration of retinal ganglion cells.

Mitochondrial inheritance.

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24
Q

MELAS

A

caused by mutation in gene for tRNA for lysine (mitochondrial inheritance)
Disrupts cytochrome-C oxidase.

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25
Q

Uniparental Disomy

A

caused by trisomy caused by nondisjunction, then both chromosomes for zygote are picked from same parent.

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26
Q

Prader-Willi syndrome

A

deletion of paternal chromosome 15.

Presents as obesity, constant eating, intellectual disability.

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27
Q

Angelman Syndrome

A

Deletion of maternal chromosome 15.

Presents as ataxic gait and severe intellectual disability.

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28
Q

Turner syndrome

A

XO

females only, short stature, few go through puberty

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29
Q

Klinefelter Syndrome

A

XXY

presents as typically tall with hypogonadism

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30
Q

Downs Syndrome

A

Trisomy 21.
Translocation error, chance increases with maternal age.
cardiac defects, duodenal atresia, intellectual disabilities.

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31
Q

Edward’s syndrome

A

Trisomy 18.

rocker bottom feet, cleft lip, microencephaly.

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32
Q

Patau Syndrome

A

Trisomy 13.

Deformed face and cleft lip, CNS dysfunction, kidney issues.

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33
Q

Retinoblastoma

A

degeneration of retinal cells.

90% penetrance

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34
Q

Osteogenesis Imperfecta

A

Locus Heterogeneity–> multiple loci can cause the phenotype, but only one needs to be mutated for it to happen

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35
Q

Neurofibromatosis

A

develop tumor-like growths on skin, looks more like big patches of darkened skin

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36
Q

Marfan Syndrome

A

Affects connective tissues, many presentations

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37
Q

Pyloric stenosis

A

Displays threshold of liability. males at greater risk due to lower threshold of liability.

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38
Q

Pertussis toxin

A

prevents activation of Gi ADP riboslyation

causes overproduction of cAMP

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39
Q

HIV

A

Confirmed using western blotting.

uses indirect ELISA

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40
Q

Sickness behavior syndrome

A

caused by release of TNF-alpha, IL-1, Il-6

presents as typical sick symptoms

41
Q

Meningitis

A

Viral or bacterial.

Bacterial is life threatening–> streptococcus Pneumoniae and Neisseria meningitides

42
Q

Complement deficiency and N meningitidis

A

susceptible due to MAC formation or AP issues.
CH50: tests classical and terminal
AH50: tests alternate and terminal

43
Q

Systemic Lupus Erythematosis

A

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
Q

Hereditary Angioedema

A

caused by defect in C1 inhibitor, causing swelling diffusely
swelling in airway, abd pain

45
Q

Paroxysmal Nocturnal Hemoglobinuria

A

caused by deficiency is glycosylphosphatidylinositol. Used for DAF and CD59, which inhibit complement.

46
Q

Ankylosing Spondylitis

A

Caused be HLA-B27 not being able to bind.

Inflammation of the spine

47
Q

Rheumatic Fever

A

Ab from streptococcus progenies infections react with cardiac tissue.
HLA-DR4

48
Q

Sjogren’s syndrome

A

HLD-DR3

salivation and lacrimation defect

49
Q

Psoriasis

A

HLA-B3 association.

50
Q

Neuroblastoma

A

Class 1 Ag-processing defect in renal cell carcinomas. caused by tissue with TAP in processing intracellular pathogens

51
Q

Bare Lymphocyte syndrome

A

caused by TAP being nonfunctional.
Class 1 MHC can’t leave ER
Chronic respiratory infections, poor viral response.

52
Q

Bare lymphocyte syndrome class 2

A

caused by deficiency in HLA class 2 expression.
transactivator CIITA is faulty.
Severe recurrent infections.

53
Q

SCID

A

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
Q

Adenosine Deaminase (ADA) deficiency

A

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
Q

Purine Nucleotide Phosphorylase (PNP) deficiency

A

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
Q

Artemis Deficiency

A

T-B-NK+
Autosomal recessive radiosensitive
Infants with: diarrhea, candidiasis, pneumocystis jiroveci pneumonia.
Increased risk of developing lymphomas.

57
Q

RAG1/RAG2 deficiency

A

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
Q

Deficiency of JAK 3

A 
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.
59
Q

Agammaglobulinemia

A

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
Q

X-Linked Btk Kinase Deficiency

A 
B-T+NK+
No IgG, IgM, IgA. 
In males. 
Defect in rearrangement of Ig heavy chain genes. 
Diagnosed in infants 5-6 months.
61
Q

Isolated IgG subclass Deficiencies

A

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
Q

IgA Deficiency

A

B+T+NK+
No IgA; normal IgG and IgM
Recurrent infections, typically with encapsulated bacteria.
Patients often develop autoimmune Diseases and allergy.

63
Q

Non-IgE mediated anaphylaxis

A

patients have undetectable IgA levels due to serum anti-IgA IgG, in response to intravenous immunoglobulin transfusion.

64
Q

DiGeorge Syndrome (DGS)

A 
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.

Live vaccines can be given to patients who have CD8 T cell counts above 300

65
Q

Hyper IgM syndrome

A

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
Q

Transient Hypogammaglobulinemia of Infancy

A

B+T+NK+
Low IgG/IgA: IgM normal
Intrinsic Ig production is delayed for up to 36 months.
Increased susceptibility to sinopulmonary infections.

67
Q

Common Variable Immune Deficiency (CVID)

A

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
Q

Common gamma chain deficiency (gamma C or IL-2Rgamma)

A

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
Q

IL-7R alpha chain deficiency

A

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
Q

Bare Lymphocyte syndrome Type 2

A

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
Q

MHC class 1 deficiency

A

T+B+NK-
mutation in TAP1 molecules to transfer peptides to ER.
CD8+ cells are deficient leading to recurrent viral infections.

72
Q

CD3 Complex deficiencies

A

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
Q

Th17 deficiencies

A

susceptibility to chronic mucocutaneous candidiasis.
Mutations in IL-17, IL-17R, STAT1, STAT2, AIRE
atopic disease (asthma, allergies), recurrent staph skin abscesses.

74
Q

IPEX

A

X-linked.
self reactive effector T cells cannot be inhibited, bc of mutation in FOXP3–> loss of inhibition by CD4+CD25+ Treg cells.

75
Q

ALPS

A

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
Q

Wiskott-aldrich syndrome (WAS)

A

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
Q

NK cell deficiency

A

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
Q

Leukocyte adhesion deficiency

A

Defective CD18–> defective migration of phagocytes into infected tissue. Infections with capsulated bacteria.
Innate immunity. twice the amount of neutrophils

79
Q

Chronic granulomatous disease (CDG)

A

Defective NADPH oxidase. Phagocytes cannot produce O2. Cant kill phagocized bacteria. Chronic bacterial and fungal infections.
Innate immunity

80
Q

Glucose-6-phosphate dehydrogenase (G6DP) deficiency

A

deficiency of G6PD. defective respiratory burst. can’t kill phasocytosed bacteria. Chronic bacterial and fungal infections. Anemia is induced.
Innate immunity
Xlinked recessive

81
Q

Myeloperoxidase deficiency

A

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
Q

Chediak-higashi syndrome

A

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
Q

Clinical manifestations of Leukocyte adhesion deficiencies

A

delayed detachment of umbilical cord.
Slow wound healing.
Severe bacterial infections.
Failure to form pus.

early death.

84
Q

C8 complement deficiencies

A

autosomal recessive.
increased susceptibility to Neisserial infections.

Diagnosis: absent C8 levels in presence of normal C3, C4

85
Q

MyD88 deficiency

A

innate immunity. impaired signaling for all TLRs except TLR3.

86
Q

Asthma

A

Type 1 Hypersensitivity.

Airway obstruction caused by release of inflammatory mediators

87
Q

Anaphylaxis

A

Type 1 Hypersensitivity.
massive release of vasoactive amines and cytokines: smoother muscle contraction, vasodilation of capillaries, drop in blood pressure.

88
Q

Graves disease

A

Type 2 hypersensitivity

Stimulates the activity of thyroid-stimulating hormone receptors even in the absence of hormone causing hyperthyroidism

89
Q

Myasthenia Gravis

A

Type 2 hypersensitivity

Inhibits binding of acetylcholine neurotransmitter to ACh receptor

90
Q

Hemolytic disease of Newborn

A

Type 2 hypersensitivity

occurs in second pregnancy–> mom makes anti-Rh antibodies that cross placenta and destroy fetal blood cells.

91
Q

Hemolytic Anemia

A

Type 2 hypersensitivity

Opsonization and phagocytosis of erythrocytes

92
Q

Transfusion reaction

A

Type 2 hypersensitivity

IgM antibodies opsonize and lyse blood cells by complement

93
Q

Serum sickness

A

Type 3 hypersensitivity

vasculitis, nephritis, arthritis

94
Q

Arthus reaction

A

Type 3 hypersensitivity
SubQ administration of antigen to previously immunized. Cutaneous vasculitis.
Local reaction–> everything is recruited to site of issue.

95
Q

Contact dermatitis with Poison ivy

A

Type 4 hypersensitivity.

96
Q

Type 4 hypersensitivities

A 
Multiple sclerosis
Rheumatoid arthritis 
Type 1 Diabetes
Crohn's
Contact sensitivity 
Tuberculosis
97
Q

Type 3 hypersensitivities

A 
Systemic lupus erythematosis 
Polyarteritis nodosa
Glomerulonephritis
Serum sickens
Arthus reaction
98
Q

Type 2 hypersensitive

A 
hemolytic anemia
thrombocytopenic 
goodpastuers syndrome
graves
myasthenia gravis
Rheumatic fever
99
Q

Type 1 hypersensitivities

A 
anaphylaxis
urticaria
rhinitis
asthma 
food allergy

SFM Quiz 2 diseases (1 decks)

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