connective tissue disease

polyclonal B activation

Tests: sensitive: serum antinuclear antibody (ANA)

Specific: antidouble stranded DNA, anti-Smith

anti-phospholipids - false positive syphillis

systemic sclerosis

(scleroderma)

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

calcification, centromere antibody

Raynaud's phenomenon

Esophageal dysmotility

Sclerodactyly

Telangiectasis (multiple punctate blood vessel dilations)

X-linked recessive

failure of pre-B cells to become mature, mutated tyrosine kinase

sinopulmonary infections

signs at 6 months (decreased maternal protection)

Failure of IgA B cells to mature into plasma cells

sinopulmonary infections, giardiasis

anaphylaxis if exposed to blood products that contain IgA

defect in B cell maturation to plasma cells

adult disease

sinopulmonary infections, GI infections, pneumonia, autoimmunity

Failure of 3rd and 4th pharyngeal pouches to develop

missing thymus and parathyroid glands

hypoparathyroidism, tetany, absent thymic shadow on Xray, PCP

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

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

mutation in DNA repair enzymes

thymic hypoplasia

autosomal recessive

cerebellar ataxia, telangiectasias of eyes and skin

risk of lymphoma, leukemia

increased alpha fetoprotein