Immunopathology

Question 1

What are the two types of immunodeficiency diseases?

Answer 1

Primary (congenital) and Secondary (acquired)

Question 2

When does Bruton X-Linked Agammaglobulinemia affect children and what gender does it primarily effect?

Answer 2

Boys under one year of age

Question 3

What is the pathogenesis of Bruton X-Linked Agammaglobulinemia?

Answer 3

• genetic defect on the long arm of the X chromosome, rendering B cells incapable of maturation
• develop recurrent infections of mucosal surfaces

Question 4

What cells and their products are deficient in Bruton X-Linked Agammaglobulinemia?

Answer 4

B cells and antibodies

Question 5

What causes DiGeorge Syndrome?

Answer 5

defective development of 3rd and 4th pharyngeal pouches, which give rise to thymic epithelium & parathyroid glands

Question 6

What organ and cell function is deficient in DiGeorge Syndrome?

Answer 6

In the absence of thymic function, T-cell maturation is interrupted at pre-T-cell stage

Question 7

When does Severe Combined Immunodeficiency Disorder (SCID) present?

Answer 7

First few months of life

Question 8

What are the primary symptoms of Severe Combined Immunodeficiency Disorder (SCID)?

Answer 8

Recurrent severe infection, diarrhea, failure to thrive, “Boy in a bubble”

Question 9

What cells are deficient in Severe Combined Immunodeficiency Disorder (SCID)?

Answer 9

B and T cells

Question 10

What cells and antibodies are deficient in immunodeficiency with ataxia telangiectasia?

Answer 10

• T cells
• IgG, IgA, IgE

Question 11

What are the symptoms of immunodeficiency with ataxia telangiectasia?

Answer 11

• increased susceptibility to infection, frequent sinopulmonary infections
• DNA repair affected
• problems with balance (ataxia) and widened small capillaries (spider vv)

Question 12

What is defective in Chediak-Higashi Syndrome?

Answer 12

Defective fusion of lysosomes and phagosomes due to defect in membrane organelles

Question 13

What are the symptoms of Chediak-Higashi Syndrome?

Answer 13

• increased susceptibility to infection by pyogenic bacteria
• reduced ability to kill ingested microbes
• frequent albinism of eyes and skin

Question 14

What cells and functions are reduced in Wiskott-Aldrich Syndrome?

Answer 14

• T and B cells, and immunoglobulins
• platelets abnormal and reduced in number

Question 15

What is deficient in LAD I and what are the symptoms?

Answer 15

• Integrins
• localized bacterial infections which may be life threatening

Question 16

What is deficient in LAD II and what are the symptoms?

Answer 16

• selectins
• in addition to life threatening infections, have severe developmental delay

Question 17

Name 4 examples of therapeutic treatments of secondary immunodeficiency

Answer 17

• ionizing radiation
• chemotherapeutics
• anti-inflammatory drugs
• immunosuppressants

Question 18

Name 2 types of secondary immunodeficiency and examples

Answer 18

• infection (HIV, EBV, Schistosoma)
• Cancers (multiple myeloma, Waldenströms Macroglobulinemia, leukemias & lymphomas)