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23 Cards in this Set
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Bruton agammaglobulinemia
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Bruton agammaglobulinemia X-linked (Xq22) Infancy (6-9 mo) Recurrent high-grade infections, sinusitis, pneumonia, meningitis Arrest in B cell differentiation (pre-B level); mutation in the Btk gene Lymphoid hypoplasia
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Common variable immunodeficiency
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Common variable immunodeficiency AR; AD Second to third decade Sinusitis, bronchitis, pneumonia, chronic diarrhea Arrest in B cell-to- plasma cell differentiation Autoimmune disease, RA, SLE, Graves' disease, ITP, malignancy
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Transient hypogam- maglobulinemia of infancy
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Transient hypogam- maglobulinemia of infancy Infancy (3-7 mo) Recurrent viral and pyogenic infections Delayed development of plasma cell maturation Frequently in families with immuno- deficiencies
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IgA deficiency
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IgA deficiency X-linked, AR, ?6p21.3 Variable Sinopulmonary infections Failure of IgA expressing B cell differentiation IgG subclass deficiency, common variable immunodeficiency, autoimmune diseases
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IgG subclass deficiency
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IgG subclass deficiency AR 2p11; 14q32.3 Variable Gastrointestinal infections; may be normal Defect in isotype IgG production IgA deficiency, ataxia- telangiectas
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IgM deficiency
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IgM deficiency AR First year Variable (normal to recurrent sinopulmonary infections and gastrointestinal infections) Defective helper T cell-B cell interaction Whipple disease, regional enteritis, lymphoid hyperplasia
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Immunodeficiency with increased IgM
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Immunodeficiency with increased IgM X-linked, AR, (Xq26) First year Sinopulmonary infections, opportunistic infections, Pneumocystis carinii Defect in CD40 ligand/CD40 signaling Neutropenia
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DiGeorge anomaly
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DiGeorge anomaly ?22q11.2 Early infancy Recurrent pyogenic infections (e.g., otitis media, sinusitis, tonsillitis, pneumonia) Hypoplasia of third and fourth pharyngeal pouch Hypoparathyroidism, aortic arch anomalies, micrognathia, hypertelorism
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Wiskott-Aldrich syndrome
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Wiskott-Aldrich syndrome X-linked, (Xp11.22) Early infancy Variable 53-kD protein (WASP) defect Recurrent infections, atopic dermatitis, platelet dysfunction, thrombocytopenia
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Ataxia-telangiectasia
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Ataxia-telangiectasia AR (11q22.3) 2-5 yr Recurrent otitis media, pneumonia, meningitis with encapsulated organisms AT gene mutation (PI3 kinase) Neurologic and endocrine dysfunction, malignancy, telangiectasis; sensitive to radiation
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Nijmegen breakage syndrome
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Nijmegen breakage syndrome AR (8q21) Infancy Sinopulmonary infections, bronchiectasis, urinary tract infections Defect in chromosomal repair mechanisms Sensitivity to ionizing radiation; microcephaly with mild neurologic impairment; malignancy
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Cartilage-hair hypoplasia
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Cartilage-hair hypoplasia (short-limbed dwarf) AR (9p13-21) Birth Variable Unknown Metaphyseal dysplasia, short extremities
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Severe combined immunodeficiency (common gamma chain)
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Severe combined immunodeficiency (common gamma chain) X-linked (Xq13.1), AR 1-3 mo Candidiasis, all types of infections (bacterial, viral, fungal, protozoal) IL-2R common gamma chain mutation (severe T cell depletion) ZAP-70 (2q12), Jak-3 kinase (19p13.1), or IL-7R alpha chain deficiency (15p13 deficiency) Severe graft-versus-host disease from maternal fetal transfusions
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Severe combined immunodeficiency (ADA deficiency)
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Severe combined immunodeficiency (ADA deficiency) AR (20q13.11) 1-3 mo Candidiasis, all types of infections (bacterial, viral, fungal, protozoal) Adenosine deaminase deficiency resulting in dATP-induced lymphocyte toxicity Multiple skeletal abnormalities, chondro-osseous dysplasia
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Severe combined immunodeficiency (PNP deficiency)
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Severe combined immunodeficiency (PNP deficiency) AR (14q13.1) 1-3 mo Candidiasis, all types of infections (bacterial, viral, fungal, protozoal) Purine nucleosidase deficiency resulting in dGTP-induced T cell toxicity Neurologic disorders, severe graft-versus-host disease from transfusions
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Severe combined immunodeficiency (reticular dysgenesis)
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Severe combined immunodeficiency (reticular dysgenesis) AR 1-3 mo Candidiasis, all types of infections (bacterial, viral, fungal, protozoal) Defective maturation of common stem cell affecting myeloid and lymphoid cells Agammaglobulinemia, alymphocytosis, agranulocytosis
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Omenn syndrome AR (11p13)
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Omenn syndrome AR (11p13) 1-3 mo Candidiasis, all types of infections (bacterial, viral, fungal, protozoal) Mutations of recombinase- activating genes (RAG-1 and RAG-2) Exfoliative erythroderma, eosinophilia, elevated IgE, lymphadenopathy, hepatosplenomegaly
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Bare lymphocyte syndrome (MHC class I)
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Bare lymphocyte syndrome (MHC class I) AR (6p21.3) First decade Sinopulmonary infections TAP1 (transporter associated with antigen processing) and TAP2 mutations Chronic lung inflammation
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Bare lymphocyte syndrome (MHC class II)
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Bare lymphocyte syndrome (MHC class II) AR Early infancy Respiratory tract infections, chronic diarrhea, CNS viral infections Mutations in RFX5, RFXAP, CIITA, and RFX-B (DNA binding factors) Autoimmune disease
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Chronic mucocutaneous candidiasis AR
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Chronic mucocutaneous candidiasis AR 3-5 yr Candidal infections of mucous membranes, skin, and nails Unknown Autoimmune endocrinopathies
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Lymphoproliferative syndromeX-linked (Xq25)
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Lymphoproliferative syndrome X-linked (Xq25) Variable Variable decrease in T, B, and NK cell function and hypogammaglobulinemia following EBV infection SAP (SLA-associated protein) defect Life-threatening EBV infection, lymphoma or Hodgkin disease, aplastic anemia, lymphohistiocytic disorder
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Lymphoproliferative syndrome AR
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Lymphoproliferative syndrome AR (10p14-15) Variable IL-2 receptor alpha-chain gene defect CD25 deficiency, with autoimmunity
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Hyper-IgE syndrome
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Hyper-IgE syndrome AD? Variable Skin and pulmonary abscesses, fungal infections, skin rash, elevated IgE Unknown Coarse facial features, failure to shed primary teeth, frequent fractures
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