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DMIC 5001 - Final > Immunodeficiency States > Flashcards

Immunodeficiency States Flashcards

1
Q

Deficient humoral immunity results in increased susceptibility to infections by _________?

A

pyogenic bacteria

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2
Q

Defects in cellular immunity lead to infections with _______ and _________ ?

A

viruses, intracellular microbes

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3
Q

Immunodeficiencies may lead to increased susceptibility to cancers caused by __________?

A

oncogenic viruses

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4
Q

Immunodeficiency may result from defects in (4)?

A

Lymphocyte maturation, Lymphocyte activation, effector mechanisms of innate immunity, effector mechanism of adaptive immunity

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5
Q

Inherited abnormalities affecting innate immunity generally affect (2)?

A

complement pathway or phagocytes

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6
Q

How are B Lymphocyte deficiencies diagnosed?

A

Reduced level of Serum Ig, defective antibody response to vaccination, reduced # of b cells in tissues, plasma absent in tissues

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7
Q

How are T Lymphocyte deficiencies diagnosed?

A

reduced # of peripheral blood T cells, low response to TY cell activators, deficient cutaneous DTH rxn’s to ubiquitous microbial antigens

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8
Q

What is CGD and a defect in what type of immunity causes it?

A

Chronic Granulomatous Disease, Innate immunity

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9
Q

CGD is cause by mutations in components of _____?

A

phagocyte oxidase system enzyme complex

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10
Q

The most common x-linked form of CGD is a mutation in ___________?

A

α subunit of cytochrome b558

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11
Q

X-linked form of CGD results in defective production of ____?

A

Superoxide Anion

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12
Q

(CGD) Superoxide anion is a ________?

A

reactive oxygen species (ros) that constitutes a major microbicidal mechanism of phagocytes.

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13
Q

(CGD) Defective production of ______ results in the failure to kill phagocytized microbes.

A

ROS

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14
Q

CGD is characterized by _______ infections with _________ producing intracellular bacterial and fungal microbes, usually from early childhood.

A

recurrent, catalase

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15
Q

T/F Aggressive antibiotic therapy for CGD usually promotes a complete recovery of the individual.

A

False. Disease is often fatal, even with antibiotics.

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16
Q

(CGD) FN-γ stimulates the production of________ by normal _______.

A

superoxide (10% is effective), PMN’s

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17
Q

What is LAD-1?

A

Leukocyte Adhesion Deficiency - Type 1

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18
Q

LAD-1 is a rare autosomal _________ disorder characterized by recurrent bacterial and fungal infections and impaired wound healing.

A

recessive

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19
Q

(LAD1) The molecular basis for this defect is absent or deficient expression of the ________, due to various mutations in the ______ gene.

A

β2 integrins, CD18

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20
Q

(LAD1) The β2 integrins are proteins which participate in the adhesion of _________ to other cells, notably _________ cells and the binding of _____ to APCs.

A

Leukocytes, endothelial, T-cells

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21
Q

(LAD1) Blood PMN counts are usually significantly ________ even when no infection is present because of the inability of the cells to adhere to vascular endothelium and migrate into the ________ compartment.

A

elevated, intravascular

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22
Q

All cytotoxic lymphocyte functions are considerably impaired because of a lack of the adhesion protein _______ .

A

LFA-1

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23
Q

LAD-2 is ?

A

Leukocyte adhesion deficiency type II

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24
Q

LAD-2 results from the absence of sialyl Lewis X, the tetrasaccharide carbohydrate ligand on _______ that is required for binding to ___________ on cytokine-activated endothelium.

A

neutrophils, “e” and “p” selectin

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25
Q

LAD-2 defect is caused by a mutation in a ______ _______ gene.

A

fucose transporter

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26
Q

(LAD2). Result is defective _______ of PMN’s to endothelium and defective
_________ of leukocytes to sites of infection

A

binding, recruitment

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27
Q

Typical infections of LAD-2 (4)?

A

Pneumonia, Periodontis, otitis media, localized cellulitis

28
Q

The chediak-higashi syndrome is a rare autosomal recessive disorder characterized by recurrent infections by pyogenic bacteria, partial oculocutaneous albinism, and infiltration of various organs by _________________ .

A

non-neoplastic lymphocytes

29
Q

What are some other defects of chediak-higashi syndrome (3)?

A

Nerve defects, early death of neutrophils, reduced chemotaxis of neutrophils

30
Q

What are 4 diseases associated with defects in innate immunity?

A

Chronic Granulomatous Disease, LAD-1, LAD-2, Chediak-Higashi Syndrome

31
Q

What are SCID’s?

A

Severe Combined Immunodeficiencies

32
Q

T/F. SCID’s result from impaired progression at various check points during T cell development only if there are defects in B cell maturation?

A

False. Progression with or without B-cell maturation.

33
Q

Disorders that effect both ________ and cell-________ immunity are called severe combined immunodeficiencies.

A

humoral, cell-mediated

34
Q

X-Linked SCID is Mutation in cytokine receptor common ___ chain

A

γ (gamma)

35
Q

X-Linked SCID is due to mutations in the gene encoding the common γ chain shared by receptors for the interleukins _____________.

A

IL-2, IL-4, IL-7, IL-9 and IL-15

36
Q

X-linked SCID condition is characterized by impaired maturation of ___ cells and ___ cells and greatly reduced numbers of mature T cells and NK.

A

T, NK

37
Q

(X Linked SCID). The number of B cells is either ________ or _________.

A

normal, increased

38
Q

(X linked SCID). The disease is the result of the inability of the lymphopoietic cytokine _____ whose receptor uses the ______ chain for signaling, to stimulate the growth of immature thymocytes.

A

IL-7, γc (gamma c)

39
Q

(SCID) The _______ immunodeficiency in this disease is due to the lack of _____ help in antibody production.

A

humoral, T cell

40
Q

(SCID). 50% patients show an autosomal recessive pattern of inheritance and many of these cases are due to a deficiency of the enzyme ____________.

A

adenosine deaminase (ADA).

41
Q

DA functions in the salvage pathway of purine synthesis and catalyzes the irreversible deamination of adenosine and 2’- deoxyadenosine to ________.

A

inosine

42
Q

(SCID) . Deficiency of ADA leads to ______ byproducts which directly or indirectly lead to apoptosis of ____________ and __________.

A

toxic, thymocytes and circulating lymphocytes

43
Q

ADA deficiency can be cured by _____- identical or _______ T cell depleted bone marrow transplantation.

A

HLA, haploidentical

44
Q

SCID has been linked to defects in _____ recombination.

A

V (D) J

45
Q

A mutation in which two genes account for a large number of autosomal recessive forms of SCID?

A

RAG-1 and RAG-2

46
Q

T/F. In children with RAG mutations, B and T cells are absent?

A

True.

47
Q

SCID is fatal unless corrected by _________?

A

bone marrow transplant

48
Q

What disease is caused by defective thymic development?

A

DiGeorge’s Syndrome

49
Q

DiGeorge’s Syndrome is a ___________ deficiency due to a congenital malformation that results in defective development of the thymus and the parathyroid glands as well as other structure that develop from the 3rd and4th pharyngealpouchesduringfetallife.

A

selective T cell

50
Q

Abnormal calcium homeostasis and muscle twitching (tetany) associated with DiGeorge Syndrome is cause by an absence of __________.

A

parathyroid glands

51
Q

Abnormal development of the great vessels and facial deformities are Hallmark features of this disease?

A

DiGeorge’s Syndrome

52
Q

This deficiency is characterized by the absence of gamma globulin (IgG) in blood and is one of the most common congenital immunodeficiencies.

A

X-Linked Agammaglobulinemia (XLA) (Bruton’s)

53
Q

What is the last stage of B-Lymphocyte maturation of individual affected with Bruton’s Agammablobulinemia?

A

Pre-B cell stage

54
Q

Mutations occur in a gene coding__________ which is involved in transducing signals from the pre-B cell receptor that are required for survival and differentiation of pre-B cells.

A

Bruton tyrosine kinase (Btk)

55
Q

Boys with XLA remain well during the first ____ months , thereafter, they acquire extracellular bacteria infections but generally handle _____ infection reasonably well.

A

6-9 months, viral

56
Q

This defect affects ~1 in 700 Caucasians and is thus the most common primary immunodeficiency known.

A

SELECTIVE IgA DEFICIENCY

57
Q

This antibody deficiency defect displays either autosomal dominant or recessive patterns of inheritance.

A

SELECTIVE IgA DEFICIENCY

58
Q

____ deficiency is characterized by low serum ____ with normal or elevated levels of IgM and IgG

A

IgA

59
Q

T/F. With Selective IgA Deficiency, the α heavy chain genes and the expression of membrane- associated IgA are normal.

A

True. Only affects serum levels.

60
Q

A group of heterogeneous disorders defined by reduced levels of serum Ig, impaired antibody responses to infection or vaccines and increased incidence of infections.

A

Common Variable Immunodeficiency

61
Q

A high incidence of malignant tumors are associated with this disorder.

A

Common Variable Immunodeficiency

62
Q

What is suggested when mature B cells are are present in lymphoid tissue, but plasma cells are absent?

A

Block in B cell differentiation to Ab-producing cells

63
Q

Common variable syndrome is also known as ___________ because of generally later stage of onset of infections.

A

“acquired” hypogammglobukinemia

64
Q

What is a rare disorder highlighted by defective switching of B cells to the IgG or IgA isotopes?

A

Hyper IgM Syndrome

65
Q

Hyper IgM Syndrome defect s caused by mutations in the gene encoding the T cell effector molecule_______ ligand.

A

CD40

66
Q

What is the treatment of choice for Hyper IgM Syndrome?

A

HLA-identical sibling bone marrow transplant at an early age

67
Q

What are the major antibody deficiencies (4)?

A

X-Linked Agammaglobuoinemia, Selective IgA Deficiency, Common Variable Immunodeficiency, Hype IgM Syndrome

DMIC 5001 - Final (2 decks)

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