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14 Cards in this Set
- Front
- Back
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Bruton's aggamaglobulinemia
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Type:
**B-cell disorder Defect: **defect in BTK tyrosine kinase gene **blocks pre-B cells from forming immature B-cells **X-linked recessive Presentation: **recurrent bacterial infections after 6 mos (maternal IgG) b/c of opsonization defect Labs: **Nl pro-B **decreased maturation **decreased # B-cells **decreased Ig's of all classes |
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Hyper-IgM syndrome
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Type:
**B-cell Defect: **defective CD40L on Thelper **results in inability to class switch Presentation: **Severe pyogenic infections early in life Labs: **increased IgM **very decreased Ig-G,-A,-E |
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Selective Ig deficiency
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Type:
**B-cell disorder Defect: **defect in isotype switching **deficiency in specific class Ig's Presentation: **sinus & lung infections **milk allergies & diarrhea **anaphylaxis on exposure to blood products w/IgA Labs: **IgA deficiency most common |
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Common variable immunodeficiency (CVID)
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Type:
**B-cell disorder Defect: **defect in B-cell maturation (many causes) Presentation: **can be acquired in 20s-30s **increased risk autoimmune dz, lymphoma, sinpulmonry infections Labs: **nl # B-cells **decreased plasma cells **decreased Ig's |
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Thymic aplasia (DiGeorge syndrome)
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Type:
**T-cell disorder Defect: **22q11 deletion **failure to develop 3rd & 4th pharyngeal pouches Presentation: **tetany (hypocalcemia) **recurrent viral/fungal infections (T-cell deficient) **congenital heart & great vessel defects **facies - maldevelopment of mandible Labs: **thymus & parathyroids fail to develop: ***decreased T cells ***decreased PTH ***decreased Ca2+ **absent thymic shadow on CXR |
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IL-12 receptor deficiency
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Type:
**T-cell disorder Defect: **decreased Th1 response Presentation: **disseminated mycobacterial infections Labs: **decreased IFN-gamma |
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Hyper-IgE syndrome (Job's syndrome)
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Type:
**T-cell disorder Defect: **Th cells fail to produce IFN-gamma **results in inability of neutrophils to respond to chemotactic stimuli Presentation: **FATED **coarse Facies **cold (noninflamed) staphylococcal Abscesses **retained primary Teeth **increased IgE **Dermatologic problems (eczema) Labs: **increased IgE |
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Chronic mucocutaneous candidiasis
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Type:
**T-cell disorder Defect: **T-cell dysfunction Presentation: **Candida albicans infections of skin & mucous membranes Labs: - |
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Severe combined immunodeficiency (SCID)
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Type:
**B & T cell disorder Defect (different types:) **MCC: defective IL-2 receptor (X-linked) **adenosine deaminase deficiency **failure to synthesize MHC II antigens Presentation: **recurrent viral, bacterial, fungal, & protazoal infections **B & T cell deficiency **absence of thymic shadow, germinal centers (biopsy), & B-cells **Tx: bone marrow transplant Labs: **decreased IL-2R --> decreased T-cell activation **increased adenosine --> toxic to B & T cells (decreased dNTPs, decreased DNA synthesis) |
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Ataxia-telangiectasia
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Type:
**B & T cell disorder Defect: **defect in ATM gene, which codes for DNA repair enzymes Presentation: **Triad: **cerebellar defects (ataxia) **spider angiomas (telangiectasia) **IgA deficiency Labs: **IgA deficiency |
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Wiskott-Aldrich syndrome
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Type:
**B & T cell disorder Defect: **X-linked recessive **progressive deletion of B & T cells Presentation: **Triad (TIE) **Thrombocytopenia purpura **Infections **Eczema Labs: **increased IgE **increased IgA **decreased IgM |
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Leukocyte adhesion deficiency (type I)
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Type:
**phagocyte dysfunction Defect: **defect in LFA-1 integrin (CD18) protein on phagocytes Presentation: **recurrent bacterial infections **absent pus formation **delayed separation of umbilicus Labs: **neutrophilia |
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Chediak-Higashi syndrome
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Type:
**phagocyte dysfunction Defect: **autosomal recessive **defect in lysosomal regulator trafficking gene (LYST) **microtubule dysfunction in phagosome-lysosome fusion Presentation: **recurrent pyogenic infections by staph & strept **partial albinism **peripheral neuropathy Labs: - |
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Chronic granulomatous disease
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Type:
**phagocyte dysfunction Defect: **lack of NADPH oxidase **decreased reactive oxygen species (superoxide) **absent respiratory burst in neutrophils Presentation: **increased susceptibility to catalase-positive organisms **staph aureus, e. coli, aspergillus Labs: **negative nitroblue tetrazolium dye reduction test |
