Diseases

Question 1

Autoimmune polyendocrine syndrome (APS)

Answer 1

• Defective AIRE gene

- Presents with mucocutaneous candidiasis, hypoparathyroidism and adrenal insufficiency.

Question 2

IPEX

Answer 2

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Question 3

Ankylosing Spondylitis

Answer 3

• Systemic chronic autoimmune disorder
• Usually affects males
• Most are HLA-B27+
• Affects axial spine leading to fusion of vertebra (bamboo spine).

Question 4

Systemic Lupus Erythematous (SLE)

Answer 4

• Multi-system autoimmune disorder
• Usually affects women
• Autoantibodies + immune complexes deposit in tissues
• Serum ANA is sensitive, not specific

Question 5

Rheumatoid Arthritis

Answer 5

• Most common inflammatory arthritis
• Usually affects women
• Rheumatoid factor +, sensitive, not specific
• Cartilage and bony destruction of joints, particularly PIPs and MCPs

Question 6

Myasthenia Gravis

Answer 6

• Autoantibody to the acetylcholine receptor on the neuromuscular endplate
• Progressive weakness, worse with use.

Question 7

Graves Disease

Answer 7

• Antibodies against TSH receptor on thyroid causing hyperthyroidism
• Usually affects women
• Prominent eyes

Question 8

Scleroderma

Answer 8

• Connective tissue disease resulting in thick skin and systemic fibrosis
• T cell stimulated collagen synthesis
• CREST
  
  • Calcinosis
  • Raynaud’s phenomenon
  • Esophageal dysfunction
  • Sclerodactylyl
  • Telangiectasias

Question 9

Multiple Sclerosis

Answer 9

• T cell mediated autoimmune disease
• demyelination of brain and spinal cord
• MRI shows multiple lesions

Question 10

Type I DM

Answer 10

• Autoreactive CD8 cells destroy pancreatic beta cells
• Inability to produce insulin
• Usually presents in young people
• Often see other autoimmune diseases

Question 11

X-linked SCID

Answer 11

• T cells -
• B cells +
• Serum Ig -
• NK cells -
• Mutation in common gamma chain receptor for cytokine
• No T cell maturation
• No Il-7 or Il-15 signals

Question 12

AR SCID (ADA)

Answer 12

• T cells -
• B cells -
• Serum Ig -
• Accumulation of toxic metabolites in lymphs

Question 13

AR SCID (PNP)

Answer 13

• T cells -
• B cells +
• Serum Ig +
• Accumulation of toxic metabolites in lymphs

Question 14

Bruton’s agammaglobulinememia X-linked

Answer 14

• Mother is carrier, manifested in male offspring
• Mutation of Bruton tyrosine kinase (BTK)
• Inability of pre-B cells to develop into mature B cells
• Diagnosed 5-6 mo old
• Repeated bacterial infections
• Lacking all Ig
• No CD19 B cells
• T cells +
• Tx gamma globulin injections

Question 15

DiGeorge Syndrome

Answer 15

• T cell defect
• Dysmorphogenesis of the 3rd and 4th pharyngeal pouches
  
  • Thymus and parathyroid
  • Aortic arch, lip and ears
• Neonatal tetany
• Absent thymic shadow
• Decreased T cells
• 22q11.2 deletion

Question 16

Hyper IgM syndrome

Answer 16

• X-linked
• Mutation in CD40L gene
• Lack of class switching
• Susceptibility with intracellular microbe, pneumocystis jiroveci

Question 17

IgA deficiency

Answer 17

• Most common primary deficiency
• No IgA secreting plasma cells
• Asymptomatic -> recurrent sinopulmonary infections and diarrhea

Question 18

Common Variable Immunodeficiency

Answer 18

• Failure in maturation of B cells into plasma cells
• Low serum levels IgG and IgA
• Normal to low IgM
• Major problems are respiratory and GI infections with pyogenic bacteria

Question 19

Wiskott-Aldrich Syndrome

Answer 19

• X-linked
• Triad of problems:
  
  • Lowered platelet count
  • Skin rashes
  • Recurrent bacterial infections
• Unable to respond to bacterial polysaccharides
• Decreased IgM

Question 20

Ataxia Telangiectasia

Answer 20

• Multisystem disorder:
  
  • Neurologic: staggering gate
  • Vascular: abnormal dilation
  • Immunologic: both T and B cell
• Low levels of IgA and IgG
• Inability to respond to skin tests
• Reduction in T cells

Question 21

Leukocyte adhesion deficiency

Answer 21

• Defect in adhesion of leukocytes to vascular endothelium
• Defect on leukocyte
  
  • Selectin ligand
  • Beta chain of integrin
• Limits recruitment of cells to sites of inflammation
• Bacterial infections without pus formation

Question 22

Chediak-Higashi Syndrome

Answer 22

• Phagocytes from pts have giant cytoplasmic granules
  
  • Granules dysfunctional
• Do not have ability to kill bacteria

Question 23

Chronic Granulomatous Disease

Answer 23

• Defective production of reactive oxygen intermediates
• Intracellular survival of microbes leads to granuloma formation
• NBT test for measuring respiratory burst

Question 24

Hereditary angiodema

Answer 24

• Deficiency in C1 inhibitor
• Results in excessive C4 and C2 activation
• Leads to localized edema