MODULE IV

Question 1

what are the examples of inappropriate and pathologic responses?

Answer 1

immunodeficiency (primary, secondary)
hypersensitivity
gammopathy
autoimmune disease or immunopathology

Question 2

what are the types of immunodeficiencies?

Answer 2

primary or genetic
secondary or acquired
cells and systems involved 
-phagocyte (nonspecific dysfunction)
-complement (non/specific dysfunction)
-humoral (specific dysfunction)
-cell mediated (specific dysfunction)

Question 3

what are the warning signs of immune deficiency?

Answer 3

2 or more ep of pneumonia
4 of more episodes of otitis
recurrent stomatitis
recurrent abcess
1 episode of severe systemic infection
recurrent intestinal infection
severe asthma
adverse affect to BCG
clinical phenotype suggestive
family history

Question 4

effect of B cell deficiencies?

Answer 4

bacterial infections

Question 5

effect of T cell deficiencies?

Answer 5

viral and other intracellular microbial infections

Question 6

innate immune deficiencies?

variable; pyogenic bacterial infections

Answer 6

chronic granulomatous disease

Question 7

name this immune system deficiency

absent or deficient expression of B2 integrins causing defective leukocyte adhesion dependent functions

Answer 7

leukocyte adhesion deficiency 1

Question 8

name this immune system deficiency

absent or deficient expression of leukocyte ligands for endothelial E and P selectins, causing failure of leukocyte migration into tissues

Answer 8

leukocyte adhesion deficiency 2

Question 9

name this immune system deficiency

defect in complement cascade activation

Answer 9

complment C3 deficiency

Question 10

name this immune system deficiency

deficient activation of classical pathway of complement leading to failure to clear immune complexes and development of lupus like disease

Answer 10

complement of C2, C4 deficiency

Question 11

name this immune system deficiency

defective lysosome function

Answer 11

Chediak-Higashi syndrome

Question 12

what type of defect is this?

recurrent non superficial pyogenic infections and recurrent ENT and airway infections

Answer 12

phagocytic cell defects

Question 13

name this phagocytic cell defect

this is a killing defect where there is a lack of NADPH oxidase (therefore decrease ROS)

Answer 13

chronic granulomatous disease (CGD)

Question 14

name this phagocytic cell defect

this is a chemotaxis defect with high IgE, staph infections, lung disease, eczema, rare

Answer 14

hyper IgE syndrome (Job syndrome)

Question 15

name this phagocytic cell defect

chemotaxis defect with defects in neutrophil chemotaxis, adhesion, and activation issues

Answer 15

leukocyte adhesion defect (LAD)

Question 16

name this phagocytic cell defect

chemotaxis defect in which there is a failure to thrive

Answer 16

schwachman-diamond syndrome

Question 17

name this phagocytic cell defect

chemotaxis defect with ROS

Answer 17

chediak higashi syndrome

Question 18

what are the immunologic and nonimmunologic characteristics of Hyper-IgE syndrome?

Answer 18

immunologic characteristics

• newborn rash
• boils
• eczema
• elevated IgE
• eosinophilia

nonimmunologic characteristics

• characteristic face
• retained primary teeth
• hyperextensibility

Question 19

defect in leukocyte adhesion and migration responsible for neutrophilia or neutropenia

Answer 19

Leukocyte adhesion deficiency (LAD)

Question 20

mutation in SBDS gene
diarrhea, failure to thrive, malabsorption til 4 mo
eczema, recurrent infections 
neutrophil could < 1000, pancytopenia 
risk of AML

Answer 20

Shwachman Diamond Syndrome

Question 21

autosomal recessive disorder characterized by partial occulocutaneous albinism, grayish white hair, giant granules in many cells, neutropenia and recurrent infections

chromosomal mutation 1q43 affecting Lyst gene

Answer 21

chediak higashi syndrome

Question 22

a type of cytotoxic lymphocyte that is not class restricted?

these play a major role in rejection of tumors and cells infected by viruses

the cells kill by releasing small cytoplasmic granules of proteins causing apoptosis

Answer 22

natural killer cells

Question 23

affect of classical NK cell deficiency?

Answer 23

Qty in peripheral circulation

Question 24

affect of functional NK cell deficiency?

Answer 24

function deficiency

Question 25

why are NK cells important?

Answer 25

involved in viral and cancerous cell removal

Question 26

this is a stem cell immune deficiency that lacks both B and T cells in peripheral circulation

lacks T and B cells in lymphoid tissues

genetic defect in synthesis of adenosine deaminase (ADA) or purine nucleoside phosphorylase (PNP)

Answer 26

severe combined immunodeficiency disease (SCID)

Question 27

how is SCID treated?

Answer 27

HSCT transplant
enzyme replacement therapy
bone marrow transplant

Question 28

a stem cell immune deficiency

rare AR neurodegenerative
Louis bar syndrome
none immune symptoms, early childhood gait disruption, movement and eye movement
immunodeficiencies with T cells. IgA, IgG2
no treatment, 20-25 year life expectancy

Answer 28

ataxia telangiectasia

Question 29

a stem cell immune deficiency

x-linked genetic disorder
thrombocytopenia and progressive T cell functional reactivity loss
eczema and repeated bacterial infections
treatment: bone marrow transplant and antimicrobials
normal IgG, reduced IgM

Answer 29

wiskott-aldrich syndrome

Question 30

name this B cell immunodeficiency

rare
absence of all Ig isotypes, normal T cell function
lack B cell tyrosine kinase

Answer 30

X linked infantile agammaglobulinemia (Brutons’s)

Question 31

name this B cell immunodeficiency

lack of IgG to IgM synthesis, normal IgA

no IgM from mother

B cells are normal and in peripheral circulation

treatment: gamma globulin and no immunizations

Answer 31

transient infantile hypogammaglobulinemia

Question 32

name this B cell immunodeficiency

onset around 15-35 years
B cells become unresponsive to Th signals, IgA class switching is most affected

increased risk of lymphomas in females

treatment: IV immunoglobulin

Answer 32

common variable immunodeficiency (CVID)

Question 33

name this B cell immunodeficiency

IgA- most common with sinopulmonary infections

IgG2/4- increased susceptibility to pyogenic bacterial infections

IgM- recurrent infections with encapsulated bacterias and septicemias

Hyper IgM- Inability to carry out class switching so accompanied by IgG/IgA deficiency

treatmentL IVIG except for IgA deficiency

Answer 33

dysgammaglobulinemias-selective immunoglobulin deficiency

Question 34

name this T cell deficiency?

lack of development of thymus and parathyroid during fetal development

thyme dysplasia or aplasia

few or no T cells in peripheral circulation or in T cell areas of regional lymphoid tissues

no production of IgG

Answer 34

DiGeorge syndrome

Question 35

name this T cell immunodeficiencies?

thyme dysplasia affects T cell maturation

abnormal IgGa dn reduced CMI with some T cells present

Answer 35

Nezelof’s syndrome

Question 36

name this T cell immunodeficiencies?

defect in T cell responsiveness to Candida.

normal Ig response

IL-2/IFN-g/IL-10

Answer 36

chronic mucocutaneous candiasis

Question 37

what are examples of secondary immune deficiencies?

Answer 37

HIV infection
diabetes
immune suppresion
malnutrition, vitamin and mineral deficiency
autoimmune disorders