Pathology - General disorders

Question 1

Developmental failure of the 3/4th pharyngeal pouches due to a 22a11 microdeletion

Answer 1

DiGeorge syndrome.

Will lack the thymus.

Question 2

Defective cell mediated and humoral deficiency due to cytokine receptor defects and lack of maturation of B and T cells.

Answer 2

Severe combine immuno deficiency (SCID)

Question 3

Complete lack of immunoglobulin.

typically seen with recurrent infections after 6 months of life.

Answer 3

X-Linked agammaglobinemia.

Question 4

IgA deficiency

Answer 4

Low serum IgA very common.

Increased risk of mucosal infections.

Question 5

Mutation of WASP gene X-linked leading to thrombocytopenia, eczema, and recurrent infections.

Answer 5

Wiskott Aldrich Syndrome

Question 6

What is one who is deficient in C5-C9 at greater risk of?

Answer 6

Neisseria infections.

Question 7

What type of hypersensitivities are seen in SLE?

Answer 7

Type II Cytotoxic and Type III Complement

Question 8

What disorder has a classic finding of small sterile deposits on both sides of the mitral valve known as libman Sacks endocarditis?

Answer 8

SLE

Look for antinuclear antibody and anti-dsDNA antibody.

Question 9

Antihistone Ab is related to SLE in which way?

Answer 9

Highly indicative of drug induced lupus.

think hydralazine, procainamide and isoniazid.

Question 10

destruction of lacrimal and salivary glands.

Answer 10

Sjorgren syndrome.

Characterized by ANA and anti-ribonucleotide antibodies.

Question 11

CREST syndrome

Answer 11

Calcinosis, Raynaud, Esophageal dysmotility, sclerodactly, and telangiectasia.

Characterized by ANA and anti-centromere Ab.