Immunodeficiency States

Question 1

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

Answer 1

pyogenic bacteria

Question 2

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

Answer 2

viruses, intracellular microbes

Question 3

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

Answer 3

oncogenic viruses

Question 4

Immunodeficiency may result from defects in (4)?

Answer 4

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

Question 5

Inherited abnormalities affecting innate immunity generally affect (2)?

Answer 5

complement pathway or phagocytes

Question 6

How are B Lymphocyte deficiencies diagnosed?

Answer 6

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

Question 7

How are T Lymphocyte deficiencies diagnosed?

Answer 7

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

Question 8

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

Answer 8

Chronic Granulomatous Disease, Innate immunity

Question 9

CGD is cause by mutations in components of _____?

Answer 9

phagocyte oxidase system enzyme complex

Question 10

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

Answer 10

α subunit of cytochrome b558

Question 11

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

Answer 11

Superoxide Anion

Question 12

(CGD) Superoxide anion is a ________?

Answer 12

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

Question 13

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

Answer 13

ROS

Question 14

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

Answer 14

recurrent, catalase

Question 15

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

Answer 15

False. Disease is often fatal, even with antibiotics.

Question 16

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

Answer 16

superoxide (10% is effective), PMN’s

Question 17

What is LAD-1?

Answer 17

Leukocyte Adhesion Deficiency - Type 1

Question 18

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

Answer 18

recessive

Question 19

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

Answer 19

β2 integrins, CD18

Question 20

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

Answer 20

Leukocytes, endothelial, T-cells

Question 21

(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.

Answer 21

elevated, intravascular

Question 22

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

Answer 22

LFA-1

Question 23

LAD-2 is ?

Answer 23

Leukocyte adhesion deficiency type II

Question 24

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.

Answer 24

neutrophils, “e” and “p” selectin

Question 25

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

Answer 25

fucose transporter

Question 26

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

Answer 26

binding, recruitment

Question 27

Typical infections of LAD-2 (4)?

Answer 27

Pneumonia, Periodontis, otitis media, localized cellulitis

Question 28

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 _________________ .

Answer 28

non-neoplastic lymphocytes

Question 29

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

Answer 29

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

Question 30

What are 4 diseases associated with defects in innate immunity?

Answer 30

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

Question 31

What are SCID's?

Answer 31

Severe Combined Immunodeficiencies

Question 32

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?

Answer 32

False. Progression with or without B-cell maturation.

Question 33

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

Answer 33

humoral, cell-mediated

Question 34

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

Answer 34

γ (gamma)

Question 35

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

Answer 35

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

Question 36

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

Answer 36

T, NK

Question 37

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

Answer 37

normal, increased

Question 38

(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.

Answer 38

IL-7, γc (gamma c)

Question 39

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

Answer 39

humoral, T cell

Question 40

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

Answer 40

adenosine deaminase (ADA).

Question 41

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

Answer 41

inosine

Question 42

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

Answer 42

toxic, thymocytes and circulating lymphocytes

Question 43

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

Answer 43

HLA, haploidentical

Question 44

SCID has been linked to defects in _____ recombination.

Answer 44

V (D) J

Question 45

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

Answer 45

RAG-1 and RAG-2

Question 46

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

Answer 46

True.

Question 47

SCID is fatal unless corrected by _________?

Answer 47

bone marrow transplant

Question 48

What disease is caused by defective thymic development?

Answer 48

DiGeorge's Syndrome

Question 49

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.

Answer 49

selective T cell

Question 50

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

Answer 50

parathyroid glands

Question 51

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

Answer 51

DiGeorge's Syndrome

Question 52

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

Answer 52

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

Question 53

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

Answer 53

Pre-B cell stage

Question 54

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.

Answer 54

Bruton tyrosine kinase (Btk)

Question 55

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

Answer 55

6-9 months, viral

Question 56

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

Answer 56

SELECTIVE IgA DEFICIENCY

Question 57

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

Answer 57

SELECTIVE IgA DEFICIENCY

Question 58

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

Answer 58

IgA

Question 59

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

Answer 59

True. Only affects serum levels.

Question 60

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

Answer 60

Common Variable Immunodeficiency

Question 61

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

Answer 61

Common Variable Immunodeficiency

Question 62

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

Answer 62

Block in B cell differentiation to Ab-producing cells

Question 63

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

Answer 63

"acquired" hypogammglobukinemia

Question 64

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

Answer 64

Hyper IgM Syndrome

Question 65

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

Answer 65

CD40

Question 66

What is the treatment of choice for Hyper IgM Syndrome?

Answer 66

HLA-identical sibling bone marrow transplant at an early age

Question 67

What are the major antibody deficiencies (4)?

Answer 67

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