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POD III > Diseases > Flashcards

Diseases Flashcards

1
Q

Autoimmune polyendocrine syndrome (APS)

A
  • Defective AIRE gene

- Presents with mucocutaneous candidiasis, hypoparathyroidism and adrenal insufficiency.

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2
Q

IPEX

A

?

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3
Q

Ankylosing Spondylitis

A
  • Systemic chronic autoimmune disorder
  • Usually affects males
  • Most are HLA-B27+
  • Affects axial spine leading to fusion of vertebra (bamboo spine).
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4
Q

Systemic Lupus Erythematous (SLE)

A
  • Multi-system autoimmune disorder
  • Usually affects women
  • Autoantibodies + immune complexes deposit in tissues
  • Serum ANA is sensitive, not specific
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5
Q

Rheumatoid Arthritis

A
  • Most common inflammatory arthritis
  • Usually affects women
  • Rheumatoid factor +, sensitive, not specific
  • Cartilage and bony destruction of joints, particularly PIPs and MCPs
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6
Q

Myasthenia Gravis

A
  • Autoantibody to the acetylcholine receptor on the neuromuscular endplate
  • Progressive weakness, worse with use.
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7
Q

Graves Disease

A
  • Antibodies against TSH receptor on thyroid causing hyperthyroidism
  • Usually affects women
  • Prominent eyes
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8
Q

Scleroderma

A
  • Connective tissue disease resulting in thick skin and systemic fibrosis
  • T cell stimulated collagen synthesis
  • CREST
    • Calcinosis
    • Raynaud’s phenomenon
    • Esophageal dysfunction
    • Sclerodactylyl
    • Telangiectasias
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9
Q

Multiple Sclerosis

A
  • T cell mediated autoimmune disease
  • demyelination of brain and spinal cord
  • MRI shows multiple lesions
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10
Q

Type I DM

A
  • Autoreactive CD8 cells destroy pancreatic beta cells
  • Inability to produce insulin
  • Usually presents in young people
  • Often see other autoimmune diseases
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11
Q

X-linked SCID

A
  • T cells -
  • B cells +
  • Serum Ig -
  • NK cells -
  • Mutation in common gamma chain receptor for cytokine
  • No T cell maturation
  • No Il-7 or Il-15 signals
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12
Q

AR SCID (ADA)

A
  • T cells -
  • B cells -
  • Serum Ig -
  • Accumulation of toxic metabolites in lymphs
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13
Q

AR SCID (PNP)

A
  • T cells -
  • B cells +
  • Serum Ig +
  • Accumulation of toxic metabolites in lymphs
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14
Q

Bruton’s agammaglobulinememia X-linked

A
  • Mother is carrier, manifested in male offspring
  • Mutation of Bruton tyrosine kinase (BTK)
  • Inability of pre-B cells to develop into mature B cells
  • Diagnosed 5-6 mo old
  • Repeated bacterial infections
  • Lacking all Ig
  • No CD19 B cells
  • T cells +
  • Tx gamma globulin injections
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15
Q

DiGeorge Syndrome

A
  • T cell defect
  • Dysmorphogenesis of the 3rd and 4th pharyngeal pouches
    • Thymus and parathyroid
    • Aortic arch, lip and ears
  • Neonatal tetany
  • Absent thymic shadow
  • Decreased T cells
  • 22q11.2 deletion
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16
Q

Hyper IgM syndrome

A
  • X-linked
  • Mutation in CD40L gene
  • Lack of class switching
  • Susceptibility with intracellular microbe, pneumocystis jiroveci
17
Q

IgA deficiency

A
  • Most common primary deficiency
  • No IgA secreting plasma cells
  • Asymptomatic -> recurrent sinopulmonary infections and diarrhea
18
Q

Common Variable Immunodeficiency

A
  • Failure in maturation of B cells into plasma cells
  • Low serum levels IgG and IgA
  • Normal to low IgM
  • Major problems are respiratory and GI infections with pyogenic bacteria
19
Q

Wiskott-Aldrich Syndrome

A
  • X-linked
  • Triad of problems:
    • Lowered platelet count
    • Skin rashes
    • Recurrent bacterial infections
  • Unable to respond to bacterial polysaccharides
  • Decreased IgM
20
Q

Ataxia Telangiectasia

A
  • Multisystem disorder:
    • Neurologic: staggering gate
    • Vascular: abnormal dilation
    • Immunologic: both T and B cell
  • Low levels of IgA and IgG
  • Inability to respond to skin tests
  • Reduction in T cells
21
Q

Leukocyte adhesion deficiency

A
  • Defect in adhesion of leukocytes to vascular endothelium
  • Defect on leukocyte
    • Selectin ligand
    • Beta chain of integrin
  • Limits recruitment of cells to sites of inflammation
  • Bacterial infections without pus formation
22
Q

Chediak-Higashi Syndrome

A
  • Phagocytes from pts have giant cytoplasmic granules
    • Granules dysfunctional
  • Do not have ability to kill bacteria
23
Q

Chronic Granulomatous Disease

A
  • Defective production of reactive oxygen intermediates
  • Intracellular survival of microbes leads to granuloma formation
  • NBT test for measuring respiratory burst
24
Q

Hereditary angiodema

A
  • Deficiency in C1 inhibitor
  • Results in excessive C4 and C2 activation
  • Leads to localized edema

POD III (12 decks)

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