Term
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Definition
connective tissue disease
polyclonal B activation
Tests: sensitive: serum antinuclear antibody (ANA)
Specific: antidouble stranded DNA, anti-Smith
anti-phospholipids - false positive syphillis |
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Term
systemic sclerosis
(scleroderma) |
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Definition
excessive collagen production
T cell cytokines
Raynaud's phenomenon, tightened face, dysphagia for solids and liquids, SI problems, resp. failure, hyperplastic arteriolosclerosis
serum ANA, possible anti-topoisomerase
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Term
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Definition
calcification, centromere antibody
Raynaud's phenomenon
Esophageal dysmotility
Sclerodactyly
Telangiectasis (multiple punctate blood vessel dilations) |
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Term
Bruton's agammaglobinemia |
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Definition
X-linked recessive
failure of pre-B cells to become mature, mutated tyrosine kinase
sinopulmonary infections
signs at 6 months (decreased maternal protection) |
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Term
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Definition
Failure of IgA B cells to mature into plasma cells
sinopulmonary infections, giardiasis
anaphylaxis if exposed to blood products that contain IgA |
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Term
Common Variable Immunodeficiency |
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Definition
defect in B cell maturation to plasma cells
adult disease
sinopulmonary infections, GI infections, pneumonia, autoimmunity |
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Term
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Definition
Failure of 3rd and 4th pharyngeal pouches to develop
missing thymus and parathyroid glands
hypoparathyroidism, tetany, absent thymic shadow on Xray, PCP |
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Term
Severe Combined Immunodeficiency (SCID) |
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Definition
combined B and T cell deficiency
adenosine deaminase deficiency, adenine toxic to B and T cells, decreased DNA precursors
autosomal recessive
defective CMI, decreased Ig
treat with gene therapy, marrow transplants |
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Term
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Definition
X-linked recessive
progressive deletion of B and T cells
Triad: eczema, thrombocytopenia, sinopulmonary infections
decreased IgM, normal IgG, increased IgA and IgE
risk of lymphoma |
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Term
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Definition
mutation in DNA repair enzymes
thymic hypoplasia
autosomal recessive
cerebellar ataxia, telangiectasias of eyes and skin
risk of lymphoma, leukemia
increased alpha fetoprotein |
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