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Immuno Exam 3 > Primary and Secondary Immune Deficiencies > Flashcards

Primary and Secondary Immune Deficiencies Flashcards

1
Q

Most common primary immune deficiency

A

IgA deficiency

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2
Q

immune deficiency

A

characterized by recurrent or persistent infections with

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3
Q

opportunisitic pathogens

A

do not normally cause disease but does so if afforded the opportunity

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4
Q

secondary immunodeficiencies

A

malnourishment or medical therapy

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5
Q

Deficiencies in phagocytosis are characterized by

A

recurrent oppotunisitic infections with extracellular pathogens

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6
Q

Deficiencies in phagocytosis are characterized by infections with

A

staph a., strep. P, e. coli, pseudo, candida, aspergillus

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7
Q

Normal neutrophil count is between

A

2000-6000

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8
Q

Congenital agranulocytosis

A

absence of mature peripheral blood neutrophils due to maturation arrest at myeloid progenitor

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9
Q

Mutations causing Congenital agranulocytosis

A

ELANE, HAX1, VPS45

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10
Q

Congenital agranulocytosis have recurrent infections with

A

bacterial and fungal infections

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11
Q

Radiation/Chemotherapy induced neutropenia

A

due to short-life span

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12
Q

Leukemia patient w/o treatment has neutropenia?

A

leukemic cells crowding out neutrophil precursors

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13
Q

G-CSF

A

recombinant colony-stimulating factors to quickly recover neutrophil count after radiation

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14
Q

Leukocyte Adherence Deficiency

A

LAD1 (defective integrin CD18) and LAD2 (defective selectin) = inability to adhere and extravasate

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15
Q

LAD have recurrent infections AND

A

inability to form pus, impaired ability of CTL and NK to adhere targets

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16
Q

Lazy Leukocyte Syndrome

A

defects in the ability of neutrophils to produce and/or respond to chemotactic signals (C5a, C3a)

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17
Q

Chronic Granulomatous Disease

A

mutation is cytochrom b, NADPH oxidase, or G6PD and myeloperoxidase leading to decreased H2O2 production

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18
Q

Chronic Granulomatous Disease manifestations

A

granulatomous lesions, neutrophils do not kill staph a. instead serves as a transporter

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19
Q

Most prevalent primary defect in intracellular killing of digested bacteria

A

Chronic Granulomatous Disease

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20
Q

Chediak-Higashi Syndrome

A

defect in MT polymerization = defect in lysosome generation and function

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21
Q

Chediak-Higashi Syndrome mutation in

A

LYST gene = MT polymerization

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22
Q

Chediak-Higashi Syndrome manifestations

A

recurrent staph and strep pyogenic infections, silver hair

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23
Q

Bruton’s X-linked agammaglobulinemia

A

quantitative deficiency in B cells, low number of mature B cell and plasma cells

24
Q

Bruton’s X-linked agammaglobulinemia recurrent

A

infections with staph, strep, haemo with anti-phagocytic capsules

25
Q

Bruton’s X-linked agammaglobulinemia has normal number of

A

pre-B cells

26
Q

Bruton’s X-linked agammaglobulinemiais a defect in

A

BTK gene - B cell receptor cytoplasmic signaling

27
Q

X-linked hyper-IgM syndrome

A

Elevated IgM, but no IgG, IgE, or IgA due to CD40 defect for B cell proliferations and isotype switching

28
Q

X-linked hyper-IgM syndrome defect in

A

CD40

29
Q

X-linked hyper-IgM syndrome have recurrent

A

pyogenic infections

30
Q

Isotype deficiencies (IgA)

A

No IgA, allergies, respiratory, mucous-associated illnesses, IgE anti-IgA

31
Q

Common Variable Hypogammaglobulinemia

A

Normal Mature B cells, but no plasma cells

32
Q

Common Variable Hypogammaglobulinemia defect in

A

cytokine receptor, Th2 production (IL-5)

33
Q

DiGeorge Syndrome

A

congenital athymic syndrome, low T cell CD3 counts

34
Q

Chronic Mucutaneous Candidiasis

A

chronic candida infection due to deficiency in T cells to respond to Candida

35
Q

Job Syndrome

A

T cells fail to produce IFN-gamma –> Th2 –> IL-4–> IgE, eczema, infections

36
Q

Job Syndrome defect in

A

STAT3 genes

37
Q

HIV infects cells with

A

CD4 markers

38
Q

Latent AIDS infection

A

positive p24 HIV antigen, no symptoms, normal CD4 count

39
Q

pre-AIDS

A

reducing CD4 counts (200-500), fever, diarrhea, weight loss, anemia, leukopenia, thrombocytopenia

40
Q

AIDS

A

<200 CD4 count, plus pre-AIDs

41
Q

Common infections in AIDS patients

A

oral thrush, HSV, cytomegalovirus, pneumocystis, TB

42
Q

Reticular dysgenesis

A

both myeloid and lymphoid stem cells fail to differentiate = no B or T cells or neutrophils

43
Q

Bare lymphocyte Syndrome Type I

A

No HLA Class I expression- failure to activate T cells to develop low T cell numbers

44
Q

Bare lymphocyte Syndrome Type II

A

No HLA Class I and II expression- failure to activate T cells to develop low T cell numbers

45
Q

Severe Combined immunodeficiency (SCID)

A

markedly depressed B and T cell counts due to faulty cytokine receptors (IL-2, Il-4, Il-7)

46
Q

SCID from ADA

A

adenosine deaminase mutation reults in toxic accumulation of metabolites, no B or T cells

47
Q

OMENN Syndrome

A

SCID with mutation in RAG1/2, no B cell production, few T cells produced

48
Q

Wiskott-Aldrich Syndrome

A

WASP mutation necessary for T cell activation of B cell

49
Q

Wiskott-Aldrich Syndrome manifestations

A

normal B and T cell numbers, but eczema, thrombocytopenia, defective antibody production

50
Q

Ataxia-Telangiectasia

A

mutation in the ATM gene for dsDNA break repair = low numbers of B and T cells

51
Q

Ataxia-Telangiectasia susceptibility to

A

lung infections, leukemia, and lymphoma

52
Q

Defects in C1, C2 or C4

A

increased IC disease or rheumatic diseases (failure to clear out Ics) and increased extracellular pus-forming bacteria

53
Q

C3 deficiency

A

recurrent encapsulated bacterial infections –> rheumatic diseases

54
Q

Alternative Pathway (Factor B, D, H or Properdin) deficiency

A

recurrent Neisseria infections

55
Q

MAC deficiency (C5, C6, C7, C8)

A

recurrent Neisseria infections

56
Q

Hereditary Angioedema

A

defect in C1 inhibitor, overproduction of peptides that regulate vascular permeability

Immuno Exam 3 (6 decks)

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