Nelson Immune Diseases #2

Question 1

SS-A and SS-B antibodies are diagnostic of what?

Answer 1

Sjogren Syndrome

Question 2

Citrullinated peptide antibodies?

Answer 2

Rheumatoid arthritis

Question 3

ANA, dsDNA, anti-Smith, and sometimes Ribosome P antibodies

Answer 3

SLE

Question 4

Anti U1-RNP antibodies

Answer 4

Mixed connective tissue disease

Question 5

Scl70

Answer 5

Scleroderma

Question 6

Jo1

Answer 6

Polymyositis

Question 7

Anti-centromere antibodies

Answer 7

CREST syndrome (of limited scleroderma)

Question 8

What does WASP protein do and tell me about the disease it is mutated in.

Answer 8

Involved in cell migration and signal transduction. Wiskott-Aldrich Syndrome: immunodeficiency with eczema and thrombocytopenia.
X-linked.
Depletion of T lymphocytes, low IgM.

Question 9

Chediak-Higashi syndrome

Answer 9

defective fusion of phagosomes and lysosomes in phagocytes, resulting in defective phagocyte function and susceptibility to infections.

Question 10

SCID

Answer 10

most commonly Adenosine deaminase deficiency. adenine toxic to B and T cells, decreases dNTP precursors for DNA synthesis.

Question 11

DiGeorge

Answer 11

failure of 3rd and 4th pharyngeal pouches to develop–thymus and parathyroid glands fail to develop. low levels of T lymphocytes

Question 12

Bruton’s aggamaglobulinemia

Answer 12

x-linked. failure of pro and pre B cells to develop into mature B cells because of a mutated Bruton’s tyrosine kinase (Btk). Obvious at age 6 months when mother Ig is gone.

Question 13

Common variable immunodeficiency

Answer 13

both sexes affected equally. failure of B cells to develop into plasma cells. onset of symptoms is later.

Question 14

Difference between dermatomyositis and polymositis

Answer 14

dermatomyositis: injury to small blood vessels in skeletal muscle along with skin rash. perifascicular myocyte atrophy secondary to ischemia–clinically present with muscle weakness and skin rash (upper eyelid discoloration, periorbital edema, scaling erythematous eruption over knuckles, elbows, and knees (Gottron’s papules).

Polymyositis: muscle involvement like dermatomyositis, lack of skin involvement! Anti-Jo1 antbodes directed against histidyl t-RNA synthetase. Appears that muscle injury caused by activated CD8+ T cells. NO perifascicular atrophy.

Question 15

Systemic sclerosis (Scleroderma)

Answer 15

chronic inflammation, damage to small blood vessels, perivascular fibrosis of skin and several organs (skin, GI, kidneys, heart, muscles, lungs).
Diffuse scleroderma: widespread skin involvement at onset, rapid progression and early visceral involvement.
Limited: skin limited to fingers, forearms, face, late visceral involvement. Some patints develop CREST syndrome (Calcinosis, Raynaud’s, esophogeal dysmotility, sclerodactyly, and telangectasia).

Note: the pathological findings are secondary to ischemic damage and fibrosis in the affected organs.

Question 16

What disease sometimes presents with anti-phospholipid antibodies? what is a complication?

Answer 16

SLE, may produce a false positive syphilis test, prolongs partial thromboplastin time…patients can get venous and arterial thrombosis resulting in spontaneous miscarriages and cerebral ischemia.