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14 Cards in this Set
- Front
- Back
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Bruton's Agammaglobulinemia
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Def: Disease of decreased production of B cells.
Inh: X-Linked Recessive (occurs in Boys) Mol. Gen: Defect in BTK (tyrosine kinase gene). Lab: Low levels of B-cells and all classes of Igs Sxs: Recurrent Bacterial Infections after 6 mo. of age (maternal IgG declines) |
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DiGeorge Syndrome
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Def: Failure of 3rd & 4th Branchial Arches to Develop. Thymus and parathyroid aplasia (or hypoplasia)
Inh: not defined Mol. Gen: 22q11 deletion syndrome Sxs: Tetany, Recurrent viral and fungal infections (T-cell def.), and congenital defects of heart and great vessels |
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Severe Combined Immunodeficiency (SCID)
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Def: defect in early stem cell differentiation causing decreased B and T cells
Inh: X-linked is most common, but probably others Mol. Gen: IL-2 receptor defect (most common), failure to synthesize MHC proteins, adenosine deaminase deficiency Sxs: recurrent viral, bacterial, fungal, protozoal infections. No rejection of allografts |
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IL-12 deficiency
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Def: IL-12 deficiency
Inh: not defined Mol. Gen: not defined Sxs: disseminated mycobacterial infxn (dec. Th1 response) |
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Hyper IgM syndrome
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Def: High levels of IgM, low levels of all other Igs due to B-cell inability to class-switch (T-cell defect, though)
Inh: not defined Mol. Gen: Defect in CD40L (T-cells) Sxs: Severe Pyogenic Infections early in life |
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Wiskott-Aldrich Syndrome
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Def: B-cell disorder in which B-cells cannot mount an IgM response to capsular polysaccharides
Inh: X-linked (Boys) Mol. Gen: Defect in WASP gene Lab: low IgM, high IgE and IgA, and small platelets (thrombocytopenia) Sxs: WIPE: Wiskott-Aldrich, Infections (pyogenic), Purpura (thrombocytopenic), Eczema |
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Job's Syndrome
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Def: Neutrophilic dysfunction due to failure of Th-cells to produce IFN-g AKA Hyper IgE disease. Neutrophils don't respond to chemotactic stimuli
Inh: not characteristic Mol. Gen: not characteristic Lab: high IgE Sxs: FATED: coarse Facies, staphylococcal Abscesses, retained baby Teeth, high IgE, Dermatologic problems (eczema) |
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Leukocyte Adhesion Deficiency Syndrome (Type-1)
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Def: Inability of leukocytes to adhere to endothelium
Inh: not characteristic Mol. Gen: defect in LFA-1 Integrin (CD18) Sxs: NO PUS, neutrophilia, recurrent bacterial infections, and delayed separation of umbilicus |
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Chediak Higashi Syndrome
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Def: Defect in microtubular function and lysosomal emptying of phagocytic cells. Phagocyte deficiency.
Inh: Autosomal Recessive Mol. Gen: not impt for boards Sxs: Recurrent pyogenic infections (staph & strep), partial albinism, and peripheral neuropathy (due to microtubular dysfxn interrupting axon transport?) |
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Chronic Granulomatous Disease (CGD)
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Def: lack of NADPH oxidase leads to decreased microbicidal activity of neutrophils
Inh: not characteristic Mol. Gen: not characteristic Lab: POSITIVE Nitroblue tetrazolium dye test Sxs: susceptibility to opportunistic infections (S. aureus, E. coli, and Aspergillus) |
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Chronic Mucocutaneous Candidiasis
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Def: T-cell dysfunction against Candida.
Inh: Idiopathic Sxs: skin and mucosal candida infxns |
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Selective Immunoglobulin deficiency
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Def: B-cell problem. Deficiency in a specific class of Igs. IgA is most common.
Sxs: sinus and lung infections, milk allergies, and diarrhea. blood products with IgA cause anaphylaxis |
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Ataxia-telangectasia
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Def: B-cell problem. Defect in DNA repair enzymes
Sxs: IgA deficiency. Ataxia and Telangectasia (spider angiomas) |
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Common Variable Immunodeficiency
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Def: Most common primary immunodeficiency. Variety of defects in B-cells that cause hypogammaglobulinemia.
Lab: normal # of circ. B-cells, decreased plasma cells, decreased Ig Sxs: inc risk of autoimmune disease and lymphoma |
