Primary and Secondary Immune Deficiencies

Question 1

Most common primary immune deficiency

Answer 1

IgA deficiency

Question 2

immune deficiency

Answer 2

characterized by recurrent or persistent infections with

Question 3

opportunisitic pathogens

Answer 3

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

Question 4

secondary immunodeficiencies

Answer 4

malnourishment or medical therapy

Question 5

Deficiencies in phagocytosis are characterized by

Answer 5

recurrent oppotunisitic infections with extracellular pathogens

Question 6

Deficiencies in phagocytosis are characterized by infections with

Answer 6

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

Question 7

Normal neutrophil count is between

Answer 7

2000-6000

Question 8

Congenital agranulocytosis

Answer 8

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

Question 9

Mutations causing Congenital agranulocytosis

Answer 9

ELANE, HAX1, VPS45

Question 10

Congenital agranulocytosis have recurrent infections with

Answer 10

bacterial and fungal infections

Question 11

Radiation/Chemotherapy induced neutropenia

Answer 11

due to short-life span

Question 12

Leukemia patient w/o treatment has neutropenia?

Answer 12

leukemic cells crowding out neutrophil precursors

Question 13

G-CSF

Answer 13

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

Question 14

Leukocyte Adherence Deficiency

Answer 14

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

Question 15

LAD have recurrent infections AND

Answer 15

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

Question 16

Lazy Leukocyte Syndrome

Answer 16

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

Question 17

Chronic Granulomatous Disease

Answer 17

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

Question 18

Chronic Granulomatous Disease manifestations

Answer 18

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

Question 19

Most prevalent primary defect in intracellular killing of digested bacteria

Answer 19

Chronic Granulomatous Disease

Question 20

Chediak-Higashi Syndrome

Answer 20

defect in MT polymerization = defect in lysosome generation and function

Question 21

Chediak-Higashi Syndrome mutation in

Answer 21

LYST gene = MT polymerization

Question 22

Chediak-Higashi Syndrome manifestations

Answer 22

recurrent staph and strep pyogenic infections, silver hair

Question 23

Bruton’s X-linked agammaglobulinemia

Answer 23

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

Question 24

Bruton’s X-linked agammaglobulinemia recurrent

Answer 24

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

Question 25

Bruton's X-linked agammaglobulinemia has normal number of

Answer 25

pre-B cells

Question 26

Bruton's X-linked agammaglobulinemiais a defect in

Answer 26

BTK gene - B cell receptor cytoplasmic signaling

Question 27

X-linked hyper-IgM syndrome

Answer 27

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

Question 28

X-linked hyper-IgM syndrome defect in

Answer 28

CD40

Question 29

X-linked hyper-IgM syndrome have recurrent

Answer 29

pyogenic infections

Question 30

Isotype deficiencies (IgA)

Answer 30

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

Question 31

Common Variable Hypogammaglobulinemia

Answer 31

Normal Mature B cells, but no plasma cells

Question 32

Common Variable Hypogammaglobulinemia defect in

Answer 32

cytokine receptor, Th2 production (IL-5)

Question 33

DiGeorge Syndrome

Answer 33

congenital athymic syndrome, low T cell CD3 counts

Question 34

Chronic Mucutaneous Candidiasis

Answer 34

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

Question 35

Job Syndrome

Answer 35

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

Question 36

Job Syndrome defect in

Answer 36

STAT3 genes

Question 37

HIV infects cells with

Answer 37

CD4 markers

Question 38

Latent AIDS infection

Answer 38

positive p24 HIV antigen, no symptoms, normal CD4 count

Question 39

pre-AIDS

Answer 39

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

Question 40

AIDS

Answer 40

<200 CD4 count, plus pre-AIDs

Question 41

Common infections in AIDS patients

Answer 41

oral thrush, HSV, cytomegalovirus, pneumocystis, TB

Question 42

Reticular dysgenesis

Answer 42

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

Question 43

Bare lymphocyte Syndrome Type I

Answer 43

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

Question 44

Bare lymphocyte Syndrome Type II

Answer 44

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

Question 45

Severe Combined immunodeficiency (SCID)

Answer 45

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

Question 46

SCID from ADA

Answer 46

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

Question 47

OMENN Syndrome

Answer 47

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

Question 48

Wiskott-Aldrich Syndrome

Answer 48

WASP mutation necessary for T cell activation of B cell

Question 49

Wiskott-Aldrich Syndrome manifestations

Answer 49

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

Question 50

Ataxia-Telangiectasia

Answer 50

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

Question 51

Ataxia-Telangiectasia susceptibility to

Answer 51

lung infections, leukemia, and lymphoma

Question 52

Defects in C1, C2 or C4

Answer 52

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

Question 53

C3 deficiency

Answer 53

recurrent encapsulated bacterial infections --> rheumatic diseases

Question 54

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

Answer 54

recurrent Neisseria infections

Question 55

MAC deficiency (C5, C6, C7, C8)

Answer 55

recurrent Neisseria infections

Question 56

Hereditary Angioedema

Answer 56

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