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29 Cards in this Set
- Front
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"B cells are absent on peripheral smear, Immunoglobulin levels are low to undetectable, Patient lacks tonsils. Lymph node biopsy showing lack of germinal centers is (+)
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"BRUTON’S AGAMMAGLOBULI
MIA. Defect in Bruton’s tyrosine kinase (Btk) --> complete absence of B cells |
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"Patients generally present with cyanosis or tetany due to the cardiac disease or hypocalcemia, respectively. Fluorescent in situ hybridization can be used to detect the 22q11 chromosomal deletion. Chest X-ray shows absent or greatly reduced thymic shadow. Low to undetectable circulating T cells are seen
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"THYMIC APLASIA (DIGEORGE SYNDROME. Characterized by the triad of hypocalcemia, tetany, and the absence of T cells. The defect is Thymic aplasia due to defective formation of the third and fourth pharyngeal pouches early in gestation. Although not hereditary, thymic aplasia is associated with 22q11 chromosomal microdeletions. The syndrome results in a nondeveloping thymus and a lack of parathyroid glands, which cause T-cell and calcium defi ciencies, respectively.
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Failure to thrive. chronic viral infections in an infant with low lymphocyte counts.
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"Flow cytometry indicating lack of lymphocytes. More specific diagnosis is made by gene mutation analysis.
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SCID. Class of inherited disorders leading to malfunctioning of both B and T cells. Enzyme deficiencies in adenosine deaminase (ADA) or purine nucleotide phosphorylase can cause accumulation of toxic metabolites in the purine degradation pathways of lymphocytes. Bare lymphocyte syndrome is an autosomal recessive defect in MHC II gene regulatory proteins that leadsto a complete defi ciency of MHC II on APCs and in the thymic epithelium. This inhibits development of CD4+ T cells and severely impairs B-cell functioning. X-linked SCID is the most common and results from a defect in the common gamma chain. This chain is common to several cytokine receptors, including IL-2, which is important in T-cell development.
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"Low serum IgM with normal levels of IgG and IgA, abnormally small platelets on peripheral smear.
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"Wiskott-aldrich syndrome. X-linked defect in Wiskott-Aldrich syndrome (WAS)protein (WASP) causing cellular defects in the actin cytoskeleton. This affects all hematopoietic cells, especially platelets and T cells. T cells lose the ability to stimulate B cells in response to capsular polysaccharides present on some bacteria. Characterized by eczema, thrombocytopenia (low platelet count), immune deficiency
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"Serum antibody titers reveal increased IgM and decreased IgA and IgG.
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Hyper-IgM. An X-linked defect in T-cell CD40-ligand. The CD40-CD40 ligand interaction is required for full activation of B cells as well as antibody isotype switching.
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"Clinical presentation in addition to identified genetic defects on both alleles of ATM.
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"Ataxia-telangiectasia. Autosomal recessive defect in the ATM protein that leads to insufficient cellular responses to DNA damage. Lymphocytes are targeted because of high rates of proliferation and the need to rapidly divide. It is associated with IgA deficiency and malignancies.
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"Leukocytosis, flow cytometric analysis of integrins, or phagocyte functional studies.
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"Autosomal recessive group of defects in the integrin receptor responsible for phagocyte binding to endothelium (LFA-1). This prevents phagocytic infiltration at the site of infection or injury.
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"Assay for neutrophil hydrogen peroxide via: (1) Nitroblue tetrazolium (NBT) (H202 appears as black granules) (2)Flow cytometric tests using fluorescent dyes such as dihydrorhodamine (DHR) (patient lacks red fluorescence, peak on left. If mother has 2 peaks, due to lyonization and disease is x-linked)
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"Chronic granulomatous disease. Defective NADPH oxidase system (mutation in any of the four enzymes) impairs the production of reactive oxygen intermediates required for phagocyte killing. As a result, phagocytes can internalize bacteria but are unable to kill certain classes. This malfunction causes accumulations of immune cells in granulomas, which form at the site of infection. Myeloperoxidase deficiency is often considered a milder form of CGD.
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"Microscopic analysis of peripheral blood shows large granules in leukocytic cells.
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"Chekiak-higashi. Autosomal recessive mutation in lysosomal traffi cking regulator (LYST) causes a failure of vesicle fusion in neutrophils (impaired phagosome-lysosome fusion), platelets, and melanocytes, among others.
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B-Cell Deficiencies
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"BRUTON’S AGAMMAGLOBULINEMIA
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T-Cell Deficiencies
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"THYMIC APLASIA
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Btk functions in B-cell differentiation, maturation, and mature signaling. B cells fail to develop normally past the pre–B-cell stage, resulting in low levels of all classes of immunoglobulins. X-linked inheritance."
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"Recurrent extracellular pyogenic and enterovirus sinopulmonary infections
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B-Cell Deficiencies
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"BRUTON’S AGAMMAGLOBULINEMIA
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B-Cell Deficiencies
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"BRUTON’S AGAMMAGLOBULINEMIA
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B-Cell Deficiencies
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"BRUTON’S AGAMMAGLOBULINEMIA
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T-Cell Deficiencies
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"THYMIC APLASIA
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Nicholas
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"Larry
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