PREFINAL LECTURE L2: IMMUNODEFICIENCIES, TRANSPLANTATION AND TUMOR IMMUNOLOGY

Question 1

Disorders in which a part of the body’s immune system is missing or dysfunctional.

Answer 1

Immunodeficiencies

Question 2

People with immunodeficiencies has increased susceptibility to?

Answer 2

• Infections (recurrent, chronic, or
  opportunistic)
• Cancers
• Poor treatment response

Question 3

Can immunodeficiencies be acquired instead of inherited?

Answer 3

YES

Question 4

2 classifications of immunodeficiencies

Answer 4

Primary and Secondary

Question 5

Identify which of the two is acquired and inherited:

• Secondary immunodeficiency
• Primary immunodeficiency:

Answer 5

• Primary
  immunodeficiency diseases (PIDs): inherited
• Secondary
  immunodeficiency: acquired

Question 6

AIDS is primary or secondary immunodeficiency?

Answer 6

secondary immunodeficiency

Question 7

Several of the immunodeficiency syndromes show what type of inheritance?

Answer 7

X-linked inheritance

Question 8

Several of the immunodeficiency syndromes show X-linked inheritance and, therefore, primarily affect what sex?

Answer 8

males

Question 9

Aside from X-linked inheritance, what other inheritance patterns are associated with immunodeficiency?

Answer 9

• Autosomal recessive
• Autosomal dominant inheritance

Question 10

The PIDs are rare disorders with a combined incidence of about?

Answer 10

1 in 1,200 live births

Question 11

Identify if primary or secondary:

Rare, developmental defects

Answer 11

primary

Question 12

Identify if primary or secondary:

From malnutrition, aging, drug therapy, viruses

Answer 12

secondary

Question 13

3 categories of disorders under PID

Answer 13

• Disorder of specific immunity
• Disorder of complement deficiency
• Disorder of phagocytosis

Question 14

This type of immunodeficiency is a group of genetic disorders that affect components of the innate or adaptive immune system.

Answer 14

Primary Immunodeficiencies (PIDs)

Question 15

They typically manifest early in life with recurrent, severe, or unusual infections, autoimmune
features, or failure to thrive.

Answer 15

Primary Immunodeficiencies (PIDs)

Question 16

T/F: Secondary immunodeficiencies typically manifest early in life with recurrent, severe, or unusual infections, autoimmune features, or failure to thrive.

Answer 16

F (its PIDs)

Question 17

Old 2 main classification of PIDs

Answer 17

Adaptive immunity and Innate immunity

Question 18

In PIDs old classification, what are the 3 types of disease under adaptive immunity?

Answer 18

• B-cell (humoral immunity)
• T-cell mediated
• Combined T and B-cell

Question 19

In PIDs old classification, what are the 3 types of disease under innate immunity?

Answer 19

• Phagocytic cells
• Complements
• NK Cells

Question 20

In PIDs, defects in humoral immunity (antibody production) result in what signs and symptoms?

Answer 20

Pyogenic bacterial infections of URT and LRT (recurrent sinusitis and otitis media)

Question 21

In PIDs, defects in T-cell mediated immunity (antibody production) result in what signs and symptoms?

Answer 21

Recurrent infections with intracellular pathogens (mucocutaneous candidiasis disseminated viral infections); cancer

Question 22

T/F: The clinical course of viral infections in patients with predominantly antibody deficiencies is not significantly different from
that in normal hosts

Answer 22

T

Question 23

The clinical course of viral infections in patients with predominantly antibody deficiencies is not significantly different from
that in normal hosts, with the exception of what disease?

Answer 23

hepatitis B

(they have agammaglobulinemias)

Question 24

What organization develop the new PIDs classification?

Answer 24

International Union of Immunological Societies (IUIS)

Question 25

The International Union of Immunological Societies has identified more than how many different congenital forms of immunodeficiency?

Answer 25

more than 350

Question 26

In what years did the IUIS updated its classification of PIDs

Answer 26

2014 and then 2017

Question 27

How many categories of PIDs are there according to IUIS?

Answer 27

9 categories

Question 28

Identify what category of PIDs: Immunodeficiencies Affecting Cellular and Humoral Immunity

Answer 28

category 1

Question 29

Identify what category of PIDs: Predominantly Antibody Deficiencies

Answer 29

category 3

Question 30

Identify what category of PIDs: Combined Immunodeficiencies with Associated or Syndromic Features

Answer 30

category 2

Question 31

Identify what category of PIDs: Diseases of Immune Dysregulation

Answer 31

category 4

Question 32

Identify what category of PIDs: Complement Deficiencies

Answer 32

category 8

Question 33

Identify what category of PIDs: Congenital Defects of Phagocyte Number, Function, or Both

Answer 33

category 5

Question 34

Identify what category of PIDs: Autoinflammatory Disorders

Answer 34

category 7

Question 35

Identify what category of PIDs: Defects in Intrinsic and Innate Immunity

Answer 35

category 6

Question 36

Identify what category of PIDs: Phenocopies of Primary Immunodeficiencies

Answer 36

category 9

Question 37

This category mimics clinical features of inherited PIDs, also the most recent classification.

Answer 37

category 9

Question 38

T/F: Some diseases in PIDs are listed in more than one category.

Answer 38

T (they possess overlapping features)

Question 39

Most common category of immunodeficiencies in PIDs

Answer 39

category 3

Question 40

Category 3 represent about what fraction of all PIDs?

Answer 40

about one-half

Question 41

This category is combined T- and B-cell immunodeficiency

Answer 41

category 1 [humoral (B-cell) and cellular (T-cell)]

Question 42

Diseases under PIDs category 1

Answer 42

- Severe combined immunodeficiency disease (SCID) - Purine-Nucleoside Phosphorylase (PNP) Deficiency - Bare Lymphocyte Syndrome

Question 43

This disease is the most serious of the congenital PID

Answer 43

Severe combined immunodeficiency disease (SCID)

Question 44

A group of related diseases that all affect T- and B-cell function but with differing causes.

Answer 44

Severe combined immunodeficiency (SCID)

Question 45

Most common form of the SCID

Answer 45

Mutation in the interleukin-2 receptor gamma (IL2RG)

Question 46

interleukin-2 receptor gamma (IL2RG) gene is located what chromosome

Answer 46

X-chromosome

Question 47

IL2RG gene codes for a protein chain called

Answer 47

common gamma chain

Question 48

Common gamma chain is common to receptors for

Answer 48

interleukins –2, –4, –7, –9, –15, and –21

Question 49

In SCID, there is markedly decreased in what cells

Answer 49

Markedly decreased T and B cells

Question 50

In SCID, patients die within what year of life?

Answer 50

1st and 2nd year of life

Question 51

SCID treatment

Answer 51

Bone marrow transplant or replace deficient enzyme

Question 52

This disease is the accumulation of toxin purine metabolite, which leads to decreased T cells and variable B cell function

Answer 52

Purine-Nucleoside Phosphorylase (PNP) Deficiency

Question 53

Hallmark of PNP deficiency

Answer 53

hyperuricemia

Question 54

PNP deficiency may be confused with what disease?

Answer 54

neonatal HIV

Question 55

Inheritance of PNP

Answer 55

autosomal recessive

Question 56

Defect in MHC Class I or II or both antigen expression

Answer 56

Bare Lymphocyte Syndrome

Question 57

This category has nonimmunologic features; more T-cell defect

Answer 57

category 2

Question 58

Diseases under category 2

Answer 58

- Wiskott-Aldrich syndrome (WAS) - Ataxia-Telangiectasia (AT) - DiGeorge Syndrome

Question 59

Wiskott-Aldrich syndrome (WAS) triad

Answer 59

thrombocytopenia, eczema, immunodefciency

Question 60

Most consistent finding in WAS

Answer 60

absence of isohemagglutinin (IgM)

Question 61

WAS inheritance

Answer 61

X-linked

Question 62

AT is low in

Answer 62

IgG2 IgA IgE