5.1 Immunodeficiency disorders

Question 1

Defined as:

Decreased host resistance to some types of infection

Decreased in cell number of functions

Excess production of molecules whose role is to “ dampen” the immune response

Answer 1

Immunodeficiency

Question 2

2 types of immunodeficiency

Answer 2

Primary
Secondary

Question 3

Inherited type of immunodeficiency that is results for developmental deects

Answer 3

Primary immunodeficiency

Question 4

2 Major mechanisms

Answer 4

1. Defect in effector cells (Immune cells)
2. Defect in effector molecule production in HI (Humoral) or CMI (Cell-mediated)

Question 5

One deficiency can impair the entire system

T or F

Answer 5

T

Question 6

Classified accrding to cell or effector that is directly affected:

B cell (50%)
T cells (10%)
Combined B and T cells (15-20%)
Phagocytes (20%)
Complement (2-4%)

T or F

Answer 6

T

Question 7

Results from developmental defects

Answer 7

Primary immunodecificency

Question 8

In primary immunodeficiency, the defect is usually in what cell?

Answer 8

Effector cell

Question 9

What is the common among B cell deficiency?

When B cells disorder occurs, there is deficiency in?

Answer 9

Gammaglobulins and antibodies

Question 10

X-linked

Defect in gene coding for Bruton’s Tyrosine kinase

Pre-B cells do not develop to mature B cels: normal CMI

Deficient in GAMMAGLOBULINS

Answer 10

Bruton’s Agammaglubulinemia

Question 11

Bruton’s Agammaglubulinemia is more effected in what sex?

Answer 11

Male

Due to single X in there chromosomes

Question 12

What is the enzyme defected in Bruton’s agammaglobulinemia?

Answer 12

Tyrosine kinase

Question 13

Enzyme that is vital for the development of B cells?

Answer 13

Tyrosine kinase

Question 14

Total plasma/serum immunoglobulin is the lab diag for?

Answer 14

Bruton’s Agammaglubulinemia

Question 15

Most common immunodeficiency

Answer 15

Selective IgA Deficiency

Question 16

Diminished IgA levels; B cells do not differentiate into IgA-secreting plasma cells

Answer 16

Selective IgA deficiency

Question 17

IV therapeutic gamma globulin is used for transfusion for?

Answer 17

Bruton’s Agammaglubulinemia

Question 18

IV therapeuutic gamma globulin is not recommended because:

1.IgA is present at high levels in plasma
2. Circulating IgA would not reach the mucosal regions
3. Secretory IgA is required
4. Patients may experience transfusion reaction (Px anti-IgA reacts with donor IgA)

Which of the following is wrong?

Answer 18

1

Low levels

Question 19

What reaction the causes patients may anti IgA reacts with donor IgA?

Answer 19

Transfusion-associated anaphylaxis

Question 20

IV therapeutic gamma globulin is can be used for selective IgA deficiency?

T or F

Answer 20

F

Question 21

No memory cell formation (No isotype switching) due to defect in T cell help

X-linked

Answer 21

Hyper IgM

Immunoglobulin Deficiency with increased IgM

Question 22

Specific immunoglobulin measurement is used for lab diag for?

Answer 22

Hyper IgM

Immunoglobulin Deficiency with increased IgM

Question 23

Low antibody levels during 5-6 moths of age due to inability to produce antibodies

Normal CMI

problem in Humoral factors

Answer 23

Transient (meaning temporary) hypogammaglobluinemia of infancy

Question 24

IgG is most affected: Ig levels normalize by 9-15 moths of age in Transient hypogammaglobluiemia

Answer 24

T

Question 25

Most common primary immunodeficiency with severe clinical manifestations B cells do not differentiate to Ab secreting plasma

Answer 25

Common variable immunodeficiecy

Question 26

Decreased level of one or more IgG subclass Deficiency of one subclass usually do not cause a decrease in total IgG concentration

Answer 26

Isolated IgG subclass deficiency

Question 27

In Isolated IgG subclass deficiency: IgG1 and IgG 3 = against protein antigens IgG2 and IgG4 = against carbohydrate antigens (Most common) T or F

Answer 27

T

Question 28

A T cell disorder: Congenital thymic hypoplasia Defective embryogenesis leading to reduce and defective thymus leading to few or no circulating T cells

Answer 28

DiGeorge syndrome

Question 29

Increased susceptibility to viral, fungal, and intracellular bacterial infection due to no circulation of T cells

Answer 29

DiGeorge syndrome

Question 30

Physical malformation arising from development from development defects

Answer 30

DiGeorge syndrome

Question 31

Rare autosomal recessive trait disorder Defect in an enzyme required in purin e metabolism Accumulation of cytotoxic purine metabolism

Answer 31

Purine Nucleoside Phosphorylase Deficiency

Question 32

Combine B and T cell Disorders:

Question 33

Most serious congenital immundeficiency with severed consequences

Answer 33

Severe combined immunodeficiency

Question 34

In severe immunodeficiency, what enzyme is defect that affects purine nucleoside metabolism

Answer 34

Adenosine deaminase

Question 35

What cell is most affected in Severe combined immunodeficiency

Answer 35

T cell

Question 36

B and T cell count by flow cytometry is used to diagnose?

Answer 36

Severe combined immunodeficiency

Question 37

X-linked: defect in WAS protein (involved in cytoskeleton reorganization during B and T cell activation

Answer 37

Wiskott-Aldrich syndrome

Question 38

T cells do not respond via TCR and IL-2, what is the disease?

Answer 38

Wiskott-Aldrich Syndrome

Question 39

Autocrine is produced by? for proliferation

Answer 39

IL-2

Question 40

Total plasma/serum IgM levels and Quantitative platelet count is lab diag for?

Answer 40

Wiskott-Aldrich Syndrome

Question 41

Cerebellar ataxia and telangiectasia: rare autosomal recessive disorder

Answer 41

Ataxia-Telangiectasia

Question 42

AT gene at chromosome 11 region q22 resulting in a defective kinase involved in DNA repair and cell cycle control

Answer 42

Ataxia Telangiectasia

Question 43

Inherited defect or deficiency of NADPH oxidase complex leading to reduced ROS formation

Answer 43

Chronic Granulomatous disease

Question 44

Nitroblue tetrazolium test is used to diagnose?

Answer 44

Chronic granulomatous disease

Question 45

Determines neutrophil-mediated conversions of NRT (Colorless) to formazan (Purple precipitates (Dark purple stains)

Answer 45

Nitroblue tetrazolium

Question 46

Mutation in the gene coding for LYST protein Neutrophils contains Giant cytoplasmic granules

Answer 46

Chediak-Higashi Syndrome

Question 47

Defect in CD18 (Adhesion protein) Defective diapedesis; poor pus formation and wound healing

Answer 47

Leukocyte adhesion Deficiency

Question 48

Flow cytometry using anti CD-18 monoclonal antibodies is a lab diag fr?

Answer 48

Leukocyte adhesion deficiency

Question 49

Secondary immunodeficiency: Some viruses developed evasive to evade host immunity

Answer 49

Viral infections

Question 50

Secondary immunodeficiency: Use of toxic drugs that intend to destroy tumor cells Also attacks other proliferating cells USe of immunosuppressive drugs Result to nonspecific imunosuppression

Answer 50

Therapeutic drugs Anti-neoplastic (Immune suppress and suppress cancer)

Question 51

Deficiencies in specific vitamins and cofactor required for optimal functioning of immune system is also supressive

Answer 51

Malnution and diseases

Question 52

Hormoal changes during pregnancy Aging is associated with suppresion of cell mediated immunity T or F?

Answer 52

T

Question 53

Produced in malignancies; uncontrolled production of B and T cells Monoclonal gammopathy T or F

Answer 53

T