Immunodeficiency diseases

Question 1

Examples of immunodeficiency diseases

Answer 1

• transient physiologic hypogammaglobulinemia
• X-linked agammaglobulinemia (Bruton’s disease)
• Dysgammaglobulinemia
• Congenital thymic aplasia (DiGeorge syndrome)
• Chronic mucocutaneous candidiasis
• Wiskott-Aldrich syndrome
• Severe combined immunodeficiency disease (SCID)
• Chronic granulomatous disease
• AIDS

Question 2

Describe transient physiologic hypogammaglobulinemia:

Answer 2

• normal occurrence in infants

- IgG diminished due to loss of maternal antibodies over time and early low rate of IgG synthesis

Question 3

Describe X-linked agammaglobulinemia (Bruton’s disease):

Answer 3

• male (sex-linked) disease
• infants 5-6 months
• defect is loss of tyrosine kinase which prevents transition from pre-B to B cells

Question 4

Describe dysgammaglobulinemia

Answer 4

• decrease in one class of immunoglobulin, usually IgA

- failure of plasma cell differentiation

Question 5

Describe congenital thymic aplasia (DiGeorge syndrome)

Answer 5

• poorly developed or absent thymus and parathyroid glands

- diminished T cells

Question 6

Describe chronic mucocutaneous candidiasis

Answer 6

• highly specific

- absence of immunity to candida

Question 7

Wiskott-Aldrich syndrome

Answer 7

• male (sex-linked) disorder
• depressed CMI and IgM
• normal IgG and IgA
• genetic absence of specific glycoprotein receptors on cells and platelets

Question 8

SCID

Answer 8

• rare
• genetic defect in stem cells
• no thymus, B, or T cells
• sometimes a mutation in IL-2 receptor

Question 9

Chronic granulomatous disease (CGD)

Answer 9

• neutrophil problem due to genetic defect in NADPH oxidase system
• effective treatment with IFN-gamma

Question 10

AIDS

Answer 10

• target is CD4+ Th cells

- loss of cytokine secretion that affects other immune processes as well

Question 11

common variable immunodeficiency

Answer 11

• lack of Th activity