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25 Cards in this Set
- Front
- Back
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Bruton's agammaglobulinemia
defect |
- X-linked recessive
- BTK defect, tyrosine kinase - blocks B-cell differentiation/maturation |
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Burton's agammaglobulinemia
presentation |
- Recurrent bacterial infections after 6 months of age
- due to decreased maternal IgG - opsonization defect |
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Bruton's agammaglobulinemia
labs |
Normal pro-B
↓ maturation ↓ # of B cells ↓ immunoglobulins of all classes |
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Hyper-IgM syndrome
defect |
- Defective CD40L on helper T cells
→ inability to class switch |
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Hyper-IgM syndrome
presentation |
- severe pyogenic infections in early life
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Hyper-IgM syndrome
Labs |
↑ IgM
↓↓ IgG, IgA, IgE |
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Selective Ig deficiency
defect |
- defect in isotype switching
→ deficiency in specific class of immunoglobulins |
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Selective Ig deficiency
presentation |
- sinus and lung infections
- milk allergies and diarrhea - Anaphylaxis on exposure to blood products with IgA |
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Selective Ig deficiency
labs |
- IgA deficiency most common
- failure to mature into plasma cells ↓ secretory IgA |
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Common variable Immunodeficiency (CVID)
defect |
- Defect in B-Cell maturation
- many causes |
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Common variable immunodeficiency (CVID)
presentation |
- can be acquired in 20s - 30s
↑ risk of autoimmune disease, lymphoma, sinopulmonary infections |
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Common variable immunodeficiency (CVID)
Labs |
- Normal number of B cells
↓ plasma cells, immunoglobulin |
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Thymic aplasia (DiGeorge syndrome)
Defect |
- 22q11 deletion
- failure to develop 3rd and 4th pharyngeal pouches |
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Thymic aplasia (DiGeorge syndrome)
presentation |
- Tetany (hypocalcemia)
- recurrent viral/fungal infections (T-cell deficiency) - congenital heart and great vessel defects |
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Thymic aplasia (DiGeorge syndrome)
labs |
- Thymus and parathyroids fail to develop → ↓ T cells
↓ PTH ↓ Ca2+ - absent thymic shadow on CXR |
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IL-12 receptor deficiency
defect |
↓ TH1 response
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IL-12 receptor deficiency
presentation |
- disseminated mycobacterial infections
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IL-12 receptor deficiency
labs |
↓ IFN-γ
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Hyper-IgE syndrome (Job's Syndrome)
defect |
-Th cells fail to produce IFN-γ
→ inability of neutrophils to respond to chemotactic stimuli |
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Hyper-IgE syndrome (Job's Syndrome)
presentation |
- FATED
- coarse Facies - cold (noninflamed) staphylococcal Absecesses - retained primary Teeth ↑ IgE - Dermatologic problems (eczema) |
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Hyper-IgE syndrome (Job's syndrome)
Labs |
↑ IgE
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Chronic mucocutaneous candidiasis
defect |
- T-cell dysfunction
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Chronic mucocutaneous candidiasis
presentation |
- Candida albicans infection of skin and mucous membranes
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Wiskott-Aldrich Syndrome
presentation |
thrombocytopenia
eczema recurrent infection |
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Wiskott-Aldrich Syndrome
labs |
X-linked recessive (WASP gene)
↓ serum IgM normal IgG paradoxical ↑ IgA, IgE |
