Immunopathology

Question 1

Characteristics of systemic lupus erythematosus (SLE)

Answer 1

Chronic systemic autoimmune disease characterized by loss of self-tolerance and production of autoantibodies.

Females are affected more often than males (M:F=1:9).

Peak incidence age 20-45

African americans are more often affected than Caucasians

Mix of type 2 and 3 hypersensitivity reactions

Question 2

What autoantibodies are detected in the serum of someone with SLE?

Answer 2

Antinuclear antibody (>95%)

Anti-dsDNA (40-60%)

Anti-Sm (20-30%)

Antihistone antibodies

Non-histone nuclear RNA proteins

Question 3

Characteristics of Sjogren syndrome

Answer 3

Autoimmune disease characterized by destruction of the lacrimal and salivary glands.

Females are affected more often than males, typical age 30-50

Question 4

What antibodies are the cause of Sjogren syndrom?

Answer 4

Anti-ribonucleoprotein antibodies SS-A (Ro) and SS-B (La)

Question 5

Characteristics of scleroderma

Answer 5

Autoimmune disease characterized by fibroblast stimulation and deposition of collagen in the skin and internal organs

Affects females more often than males, typical age 20-55 years

Question 6

Characteristics of diffuse scleroderma

Answer 6

Has anti-DNA topoisomerase I antibodies

Widespread skin involvement and early involvement of the visceral organs

Question 7

Characteristics of localized scleroderma

Answer 7

CREST Syndrome
Has anti-centromere antibodies
Skin involvement of the face and hands, late envolvement of visceral organs and relatively benign clinical course

Question 8

What is CREST syndrome?

Answer 8

Calcinosis
Raynaud syndrome
Esophageal dysmotility
Sclerodactyly
Telangiectasia

Question 9

Characteristics of mixed connective tissue disease

Answer 9

Overlap condition with features of SLE, systemic sclerosis and polymyositis.

Antiribonucleoproteins antibodies are nearly always positive

Question 10

Characteristics of X-linked agammaglobulinemia of Bruton

Answer 10

Immunodeficiency characterized by a developmental failure to produce mature B-cells and plasma cells.

Occurs due to loss of function mutations of B-cell Bruton tyrosine kinase (BTK)

Clinically, the disease affects male infants who have recurrent infections beginning at 6 months of life due to the loss of passive maternal immunity.

Question 11

What are the common infections of X-linked agammaglobulinemia of Bruton?

Answer 11

Pharyngitis
Otitis media
Bronchitis
Pneumonia

Question 12

Characteristics of common variable immunodeficiency

Answer 12

Group of disorders characterized by defects in B-cell maturation that can lead to defective IgA or IgG production

Affects both sexes with onset in childhood