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Diseases > SFM Final Diseases (excluding Quiz 1 and 2) > Flashcards

SFM Final Diseases (excluding Quiz 1 and 2) Flashcards

1
Q

What microbe inhibits phagolysosome fusion?

A

Mycobacteria

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2
Q

What microbe inhibits antigen presentation and interferes with the TAP transporter?

A

Herpes Simplex Virus (HSV)

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3
Q

What microbe inhibits antigen presentation, proteasomal activity, and aids in the removal of MHC molecules from the ER?

A

Cytomegalovirus

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4
Q

What microbe inhibits antigen presentation, proteasomal activity and produces IL-10, which leads to the inhibition of macrophage and dendritic cell activation?

A

Epstein-Barr Virus (EBV)

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5
Q

What microbe inhibits effector cell activation by producing soluble cytokines receptors that bind to IL’s that would activate effector cells?

A

Pox Virus

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6
Q

Give some examples of microbes that change their surface antigens to evade humoral immunity

A

HIV, influenza, neisseria gonorrhoeae, E. Coli

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7
Q

Give some examples of microbes that have an outer capsule or coat that prevents complement activation

A

N. gonorrhoeae

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8
Q

Give some examples of microbes that have a capsule that prevents the binding of antibodies and thus phagocytosis

A

Streptococcus

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9
Q

Hyper IgM Syndromes

A

Cause: 5 types with 5 genetic defects that all lead to the inability to class switch; x-linked, defect in CD40L

Symptoms: prone to a variety of infections; neutropenia, FTT, thrombocytopenia and anemia are common

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10
Q

Give examples of opportunistic pathogens (pathogens that don’t cause disease in immunocompetent individuals)

A

Candida, C diff, pneumocystis jiroveci, cryptosporidium, toxoplasma gondii, and cytomegalovirus

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11
Q

Leprosy

A

Cause: M leprae colonizers macrophages and other host cells and multiplies within them; grows best at 86, hence predominant growth of lesions on extremities

Symptoms: cutaneous lesions, neuropathic changes and deformities; some symptoms vary depending on the type of immune response to the mycobacterium

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12
Q

Toxic Shock Syndrome

A

Cause: associated with localized S aureus infection, food poisoning, or local colonization

Symptoms: most cases occur in menstruating women, typically teens; tampons provide food source for bacteria to multiply if kept in the vagina longer than recommended

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13
Q

Superantigens

A

Bind to beta chain of the TCR, but not in the Ag binding groove; does not require Ag processing so very “fast” response; activates T cells in the absence of cytokines and co-stimulators ligand binding

Polyclonal activation - 10-20% of T cells systemically

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14
Q

Give examples of diseases that are the result of superantigens

A

Toxic shock syndrome, staphylococcal food poisoning, streptococcal toxic shock syndrome, scarlet fever, mycoplasma arthritidis (rodent), and clostridium perfringens

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15
Q

What are some consequences of superantigen activation?

A

Fever, rash, edema, hypotension, shock with multiple organ failure due to intravascular volume depletion

TNF-alpha and IL-1 contribute to increase in vascular permeability that leads to leakage of fluid from the intravascular space into the perivasculature

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16
Q

Describe what an opportunistic organism is

A

They have low virulence and occur when the host defenses are immunocompromised by a PID, chronic disease, or treatment

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17
Q

Describe why a PID is not typically detected in newborns

A

Because in the first 6 months, the baby is still receiving the mothers anti-bodies, but they have a half life of a month

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18
Q

What are deficiencies that are seen in the innate immune system?

A

Deficiencies in phagocytosis and complement

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19
Q

What are deficiencies that are seen in the adaptive immune system?

A

Antibody deficiencies
T cell deficiency
Combined deficiency

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20
Q

How can you screen for a T cell, B cell, or combined cell defects?

A

Differential CBC of blood cells

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21
Q

How can you screen for T cell defects?

A

DTH skin test; if it is negative, then there is an impaired T cell response

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22
Q

What are the two ways that humoral immunodeficiencies can be diagnosed? (screened for)

A
  1. Serum IgG, IgA, and IgM levels

2. Ab testing to specific Ag after immunization; looking for a decreased response

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23
Q

How can you screen for a complement deficiencies?

A

Total hemolytic complement assay (CH50 and AH50)

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24
Q

How can you screen for a phagocytic disorder?

A

nitro blue tetrazolium test

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25
Q

SCID (general info)

A 
Severe combined Immunodeficiency 
Two phenotypes (T-B-NK- and T-B-NK+) 
Typically diagnosed in infancy secondary to chronic diarrhea, failure to thrive, and frequent infections (more detail in cards to come)
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26
Q

SCID (T-B-NK-)

A

Deficiency in the ADA which is involved in the breakdown of adenosine; without it, there is a toxic buildup of purine metabolites. B and T cells are at risk here as they are HIGHLY proliferative cells, so they are undergoing DNA replication and formation a LOT, so these toxins build up quickly; T cells are MORE susceptible

Low IgG, IgA, and IgM

sx: severe lymphopenia, opportunistic infections, diarrhea, failure to thrive

AVOID ALL LIVE VIRAL VACCINES

27
Q

SCID (T-B-NK+)

A

Deficiency in Artemis, which is an enzyme in the VDJ recombination, repairing double stranded breaks; this effects both T and B cells, making them

OR

RAG1 and RAG2 deficiencies; these are involved in VDJ recombination, TCR maturation, which directly effects T cells

sx: severe lymphopenia, opportunistic infections, diarrhea, failure to thrive

AVOID ALL LIVE VIRAL VACCINES

28
Q

Purine Nucleotide Phosphorylase (PNP) deficiency

A

(T-B+NK+)
Normal IgM, IgG, and IgA
Autosomal recessive

leads to an accumulation of intracellular dGTP which is toxic to lymphocytes, leading to a decreased peripheral T cell number

sx: neurological abnormalities; can be associated with autoimmune disorders; hemolytic anemia, thyroid disease, arthritis, lupus

Tx: HSCT

AVOID ALL LIVE VIRAL VACCINES

29
Q

Describe an Artemis deficiency

A

T-B-NK+
Low IgG, IgA, and IgM
autosomal recessive

Radiosensitivity

Sx: diarrhea, candidiasis, and fungal infections. Patients are also more prone to develop lymphomas

AVOID ALL LIVE VIRAL VACCINES

30
Q

Omenn syndrome

A

Deficiency in the RAG1/RAG2 proteins that cause an impaired VDJ recombination which leads to defective BCR and TCR

sx: severe erythroderma, splenomegaly, eosinophilia, high IgE levels

AVOID ALL LIVE VIRAL VACCINES

31
Q

Jak 3 deficiency

A

T-B+NK+
VERY low IgG, IgA, and IgM
autosomal recessive

Mutation in the JAK3 which causes a defect in the IL-2 receptor signaling

AVOID ALL LIVE VIRAL VACCINES

32
Q

Agammaglobulinemia

A

X linked OR autosomal dominant

Early B cell development is arrested at the pre-B cell stage, which means that there are no functional BCRs and B cells are absent or low in number

33
Q

X-linked Btk Kinase Deficiency

A

B-T+NK+
No IgG, IgM, IgA

X-linked; only in males

defect in the rearrangement of the Ig heavy chains; diagnosed in infancy due to the maternal Ig half lives

34
Q

Isolated IgG subclass deficiencies

A

(B+T+NK+)
Characterized by a decreased concentration of one or more IgG class

sx: recurrent viral and bacterial infections in the respiratory tract

35
Q

What are low levels of IgG2 associated with in children?

A

poor responses to polysaccharide Age

36
Q

IgA deficicency

A

high incidence; effects the peripheral B cells in that they are not able to mature and terminally differentiate including the formation of plasma cells

males>females

sx: recurrent infections with encapsulated bacteria; autoimmune diseases and allergies

37
Q

How are patients that have an IgA deficiency able to overcome the deficiency itself and avoid the recurrent infections?

A

because of the translocation of IgM across the mucosal epithelium; it acts as the IgA and is able to activate complement and the innate immune system

38
Q

Describe the anti-IgA antibodies and what can they lead to?

A

The anti IgA Abs are IgG family; can be linked with the non IgE mediated anaphylaxis which is problematic

39
Q

DiGeorge Syndrome

A

T-B+NK+
Normal IgG, IgA, IgM

caused by a microdeletion of 22q11.2 region

sx: cardiac abnormalities, hypocalcemia, and hypo plastic thalamus which leads to T cell dysfunction, humoral immunity is intact, frequent upper respiratory infections

LIVE viral vaccines can be given to patients who have a CD8 T cell count above 300 cells/mm3

40
Q

Hyper IgM syndromes (HIGM)

A

B+T+NK+
High IgM, low IgG, IgA
characterized by impaired class switching and somatic hypermutation; normal peripheral B cells but LOW CD27+ B memory cells; typically due to a mutation in the CD40L gene of the T cell which is not able to bind to the B cell’s CD40, causing decreased class switching and somatic hypermutation

sx: increased susceptibility to bacterial infections,

41
Q

Transient Hypogammaglobulinemia of Infancy

A

B+T+NK+
Low IgG/IgA; IgM is normal

intrinsic IgG is delayed

sx: increased susceptibility to sinopulmonary infections

42
Q

Common Variable Immune Deficiency (CVID)

A

B-/+T+NK+
reduced number of B cells that fail to differentiate into plasma cells

Defect in Ab production associated with hypogammaglobulinemia
-mutations in the B cell growth factors and costimulators

sx: recurrent sinopulmonary infections; increased risk of infection, autoimmune disease, and malignancies

Onset at 4-5 but diagnosed in the 20s or 30s

43
Q

Common-gamma Chain Deficiency (IL-2R-gamma)

A

Cause: gene encodes gamma-chain shared by IL-2R-gamma receptor and other growth factor receptors; most common (45%) form of SCID; inherited x-linked recessive

Symptoms: very low IgG, IgA, and IgM; T-/B+/NK- phenotype; FTT, severe thrush, opportunistic infections, chronic diarrhea

AVOID ALL LIVE VIRAL VACCINES

44
Q

IL-7R Alpha Chain Deficiency

A

Cause: IL-7R alpha chain deficiency; autosomal recessive form of SCID

Symptoms: very low to absent IgG, IgA, and IgM; T-/B+/NK+ phenotype; classic SCID symptoms (candidiasis, chronic diarrhea, pneumonia, severe viral infections)

AVOID ALL LIVE VIRAL VACCINES

45
Q

Bare Lymphocyte Syndrome Type II

A

Cause: mutations in genes encoding transcription factors that regulate expression of MHC II; autosomal recessive inheritance form of SCID

Symptoms: deficiency of CD4+ T cells; variable hypogammaglobulinaemia (mainly IgA and IgG2); leads to recurrent respiratory, gastrointestinal, and urinary tract infections and frequently death in early childhood

46
Q

MHC Class I Deficiency

A

Cause: mutation in TAP1 molecules to transfer peptides to ER

Symptoms: CD8+ T cells deficient, but CD4+ normal; normal Ab production; normal DTH (delayed-type hypersensitivity)

47
Q

CD3 Complex Deficiencies

A

Cause: deficiency of CD3 subunits (delta, gamma, epsilon, or zeta); autosomal recessive SCID

Symptoms: lymphopenia, decreased T cell numbers; decreased Ab responses; FTT, opportunistic infections, chronic diarrhea

48
Q

Defects in IL-12/IFN-gamma Pathway

A

Cause: mutations in IL-12 or IL-12R genes that results in primary immunodeficiencies

Symptoms: no Th1 cytokine IFN-gamma production, which controls intracellular bacterial infections; susceptible to atypical mycobacteria, candida, and salmonella; also have defects in IL-17 producing Th17 cells which leads to recurrent fungal infections

49
Q

Th17 Deficiency

A

Cause: mutations in genes encoding for either IL-17, IL-17R, or transcription factors STAT1, STAT3, or AIRE

Symptoms: susceptible to chronic mucocutaneous candidiasis; prior to Th17 diagnosis, patients were categorized as having hyper IgE syndrome (severe atopic diseases and recurrent staph aureus skin abscesses)

50
Q

IPEX (immunodysregulation, polyendocrinopathy and enteropathy, X-linked syndrome)

A

Self-reactive T effector cells are not inhibited because of a mutation in FOXP3, which results in loss of inhibition by CD4+CD25+ Treg cell

51
Q

ALPS (autoimmune lymphoproliferative syndrome)

A

Defects in either Fas, FasL, caspase-8, or caspase-10 genes that results in abrogated formation of the death-inducing signaling complex (DISC) and resistance of effector T cells to apoptosis

52
Q

Wiskott-Aldrich Syndrome (WAS)

A

Cause: mutations in the Wiskott-Aldrich Syndrome Protein (WASP); x-linked disorder

Symptoms: thrombocytopenia, eczema, cellular and humoral immunodeficiency, autoimmune disease, and malignancy; low IgM, normal IgG, elevated IgA and IgE; T-/B+/NK- phenotype; decreased NK function

53
Q

NK Cell Deficiency

A

Cause: mutations in multiple genes; can be classical (absence of NK) or functional (defective NK activity) without NK cell lymphopenia

Symptoms: multiple severe/disseminated viral infections including herpesvirus, varicella pneumonia, disseminated cytomegalovirus, and herpes simplex virus

54
Q

Chronic Granulomatous Disease

A

Cause: enzymatic deficiency of NADPH oxidase in phagocytes, so they fail to generate superoxide anion and other O2 radicals; form granulomas

Symptoms: defective elimination of extracellular pathogens such as bacteria, fungi; susceptible to recurrent infection with catalase-positive organisms (staphylococci)

55
Q

G6PD Deficiency

A

Cause: G6PD deficiency; x-linked recessive; causes lack of substrate for NADPH

Symptoms: most are asymptomatic; manifests same as CGD and characterized by the tendency to form granulomas

56
Q

Leukocyte Adhesion Deficiency (LAD)

A

Cause: type-I is mutation in beta-2 integrins (CD11/CD18) and type-II is impaired function of PSGL-1 caused by mutations in a fucosetransporter

Symptoms: neutrophil levels 2x normal even without an infection; recurrent infections with bacteria and fungi and inability to form pus at extravascular sites; delayed attachment of umbilical cord, slow wound healing; usually leads to early death

57
Q

Chediak-Higashi Syndrome

A

Cause: molecular defect in structure of neutrophil granule appearing as abnormal giant granules; autosomal recessive

Symptoms: recurrent Phoenix granulomas caused by bacterial infections; second phase of disease is accelerated lymphoproliferative syndrome; no NK activity; giant cytoplasmic inclusions

58
Q

C1, C2, and C4 Deficiencies

A

Manifest as SLE-like autoimmunity; associated with recurrent sinopulmonary infections, especially in C2 deficiency; increased susceptibility to neisseria species

59
Q

Properdin, Factor B, Factor H and Factor D Deficiencies

A

Properdin, Factor B, and Factor D: present with severe infections caused by neisseria meningitis and other extracellular bacteria

Factor H: associated with atypical hemolytic uremic syndrome or glomerulonephritis

60
Q

What is the most common complement deficiency among caucasian populations?

A

C2 deficiency; found in young children who have recurrent infections with streptococcus pneumoniae

61
Q

C8 Complement Deficiency

A

Cause: inherited deficiencies, acquired deficiencies, or complement consumption; autosomal recessive

Symptoms: absent C8 levels in the presence of normal or low C3 and C4 values; increased susceptibility to invasive neisserial infections

62
Q

MyD88 Deficiency

A

Cause: MyD88 deficiency of innate immune system that results in impaired signaling for all TLR’s except TLR3 (it is MyD88-independent)

Symptoms: abnormally frequent and severe infections caused by pyogenic bacteria; normal resistance to bacteria, viruses, fungi, and parasites; characteristic lack of fevers; during infection, TNF-alpha, IL-1, and IL-6 are low

63
Q

TLR3 Deficiency

A

Autosomal dominant disorder which results in increased susceptibility to HSV encephalitis

Diseases (8 decks)

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