LABORATORY ASSESSMENT OF IMMUNE DEFICIENCY DISORDERS

Immunology and Allergy Clinics of North America - Tập 14 - Trang 265-299 - 1994
William T. Shearer1,2, Mary E. Paul1,2, C. Wayne Smith1,2, David P. Huston1,2
1Baylor College of Medicine, Houston, Texas
2Texas Children's Hospital, Houston, Texas

Tài liệu tham khảo

Agget, 1979, An inherited defect of neutrophil mobility in Shwachman syndrome, J Pediatr, 94, 391, 10.1016/S0022-3476(79)80578-8

Allen, 1993, CD40 ligand gene defects responsible for xlinked hyper IgM syndrome, Science, 259, 990, 10.1126/science.7679801

Ambruso, 1985, Infectious and bleeding complications in patients with glycogenosis lb: Relationship to neutrophil and platelet function, Am J Dis Child, 139, 691

Ammann, 1991, Antibody (B cell) immunodeficiency disorders, 232

Anderson, 1992, Neonatal neutrophils, J Lab Clin Med, 120, 816

Anderson, 1991, Diminished lectin, epidermal growth factor, complement binding domain-cell adhesion molecule-1 on neonatal neutrophils underlies their impaired CD18-independent adhesion to endothelial cells in vitro, J Immunol, 146, 3372, 10.4049/jimmunol.146.10.3372

Anderson, 1981, Recurrent infection in glycogenosis type lb: Abnormal neutrophil motility related to impaired redistribution of adhesion sites, J Infect Dis, 143, 447, 10.1093/infdis/143.3.447

Anderson, 1987, Leukocyte adhesion deficiency: An inherited defect in the Mac-1, LFA-1 and pl 50, 95 glycoproteins, Ann Rev Med, 38, 175, 10.1146/annurev.me.38.020187.001135

Baehner, 1986, DNA linkage analysis of X chromosomelinked chronic granulomatous disease, PNAS, 83, 3398, 10.1073/pnas.83.10.3398

Blume, 1972, The Chediak-Higashi syndrome: Studies in four patients and a review of the literature, Medicine, 51, 247, 10.1097/00005792-197207000-00001

Buckley, 1992, Abnormal development of the immune system, 327

Buckley, 1992, Immunodeficiency diseases, JAMA, 268, 2797, 10.1001/jama.1992.03490200049006

Buckley, 1978, Abnormalities in the regulation of human IgE synthesis, Immunol Rev, 41, 288, 10.1111/j.1600-065X.1978.tb01469.x

Buckley, 1991, The use of intravenous immunoglobulin in immunodeficiency diseases, N Engl J Med, 325, 110, 10.1056/NEJM199107113250207

Burks, 1986, Anaphylactic reactions after gamma globulin administration in patients with hypogammaglobulinemia, N Engl J Med, 314, 560, 10.1056/NEJM198602273140907

Callard, 1993, CD40 ligand and its role in X-linked hyper-IgM syndrome, Immunol Today, 14, 559, 10.1016/0167-5699(93)90188-Q

Check, 1992, Immunoglobulin quantitation, 71

Clark, 1989, Genetic variants of chronic granulomatous disease: Prevalence of deficiencies of two cytosolic components of the NADPH oxidase system, New Engl J Med, 321, 647, 10.1056/NEJM198909073211005

Cowan, 1979, Multiple biotin-dependent carboxylase deficiencies associated with defects in T cell and B cell immunity, Lancet, 2, 117

Davis, 1966, Job’s syndrome: Recurrent “cold” staphylococcal abscesses, Lancet, 1, 1013, 10.1016/S0140-6736(66)90119-X

Desnick, 1976, Mannosidosis: Clinical, morphologic, immunologic, and biochemical studies, Pediat Res, 10, 985, 10.1203/00006450-197612000-00008

Dinauer, 1987, The glycoprotein encoded by the X-linked chronic granulomatous disease locus is a component of the neutrophil cytochrome b complex, Nature, 327, 717, 10.1038/327717a0

Etzioni, 1992, Brief report: Recurrent severe infections caused by a novel leukocyte adhesion deficiency, N Engl J Med, 327, 1789, 10.1056/NEJM199212173272505

Fast, 1981, Evidence for T cell nature and heterogeneity within natural killer and antibody-dependent cytotoxicity (ADCC) effectors: A comparison with cytolytic T lymphocytes (CTL), J Immunol, 127, 448, 10.4049/jimmunol.127.2.448

Fearon, 1987, Carrier detection in X-linked agammaglobulinemia by analysis of X-chromosome inactivation, N Engl J Med, 316, 427, 10.1056/NEJM198702193160802

Fischer, 1986, Role of the LFA-1 molecule in cellular interactions required for antibody production in humans, J Immunol, 136, 3198, 10.4049/jimmunol.136.9.3198

Fischer, 1980, Monocyte chemotaxis under agarose: Defects in atopic disease, aspirin therapy, and mucocutaneous candidiasis, Pediat Res, 14, 242, 10.1203/00006450-198003000-00013

Francke, 1990, Genes for two autosomal recessive forms of chronic granulomatous disease assigned to lq25 (NCF2) and 7qll.23 (NCF1), Am J Hum Genet, 47, 483

Frank, 1992, Detection of complement in relation to disease, J Allergy Clin Immunol, 89, 641, 10.1016/0091-6749(92)90367-B

Frydman, 1992, Rambam-Hasharon syndrome of psychomotor retardation, short stature, defective neutrophil motility, and Bombay phenotype, Am J Med Genet, 44, 297, 10.1002/ajmg.1320440307

Fuleihan, 1993, Defective expression of the CD40 ligand in X- linked immunoglobulin deficiency with normal or elevated IgM, Proc Nat Acad Sci, 90, 2170, 10.1073/pnas.90.6.2170

Gallin, 1981, Abnormal phagocyte chemotaxis: Pathophysiology, clinical manifestations, and management of patients, Rev Infect Dis, 3, 1196, 10.1093/clinids/3.6.1196

Gallin, 1992, Disorders of phagocytic cells, 859

Gallin, 1985, Neutrophil specific granule deficiency, Ann Rev Med, 36, 263, 10.1146/annurev.me.36.020185.001403

Gant, 1988, Microbial/cytoxic proteins of neutrophils are deficient in two disorders: Chediak-Higashi syndrome and “specific” granule deficiency, J Clin Invest, 82, 552, 10.1172/JCI113631

Giorgi, 1986, Lymphocyte subset measurements: Significance in clinical medicine, 236

Guerra, 1986, Permanent intrinsic B cell immunodeficiency caused by phenytoin hypersensitivity, J Allergy Clin Immunol, 77, 603, 10.1016/0091-6749(86)90353-2

Hirschorn, 1993, Overview of biochemical abnormalities and molecular genetics of adenosine deaminase deficiency, Pediatr Res, 33, S 35, 10.1203/00006450-199333011-00008

Insel, 1986, Response to oligosaccharide-protein conjugate vaccine against Hemophilus influenza b in two patients with IgG2 deficiency unresponsive to capsular polysaccharide vaccine, N Engl J Med, 315, 499, 10.1056/NEJM198608213150807

Johnson, 1992, Type I human complement C2 deficiency. A 28-base pair gene deletion causes skipping of exon 6 during RNA splicing, J Biol Chem, 267, 9347, 10.1016/S0021-9258(19)50430-6

Johnson, 1981, Immune deficiency in fetal alcohol syndrome, Pediatr Res, 15, 908, 10.1203/00006450-198106000-00005

Kinnon, 1993, X-linked agammaglobulinemia-gene cloning and future prospects, Immunol Today, 14, 554, 10.1016/0167-5699(93)90187-P

Kishimoto, 1988, Molecular regulation of B lymphocyte response, Ann Rev Immunol, 6, 485, 10.1146/annurev.iy.06.040188.002413

Klebanoff, 1992, Oxygen metabolites from phagocytes, 541

Klein, 1977, Decreased mononuclear and polymorphonuclear chemotaxis in human newborns, infants, and young children, Pediatrics, 60, 467, 10.1542/peds.60.4.467

Kondo, 1993, Sharing of the interleukin-2 (IL-2) receptor chain between receptors for IL-2 and IL-4, Science, 262, 1874, 10.1126/science.8266076

Laver, 1990, High levels of granulocyte and granulocytemacrophage colony-stimulating factors in cord blood of normal full-term neonates, J Pediatr, 116, 627, 10.1016/S0022-3476(05)81617-8

Levy, 1988, Adenosine deaminase deficiency with late onset of recurrent infections: Response to treatment with polyethylene glycolmodified adenosine deaminase, J Pediatr, 113, 312, 10.1016/S0022-3476(88)80271-3

Lomax, 1989, The molecular biology of selected phagocyte defects, Blood Rev, 3, 94, 10.1016/0268-960X(89)90004-0

Maluish, 1986, Lymphocyte proliferation, 274

Melchers, 1993, The surrogate light chain in B-cell development, Immunol Today, 14, 60, 10.1016/0167-5699(93)90060-X

Meyers, 1984, Hereditary transcobalmin II deficiency with subnormal serum cobalmin levels, Pediatrics, 74, 866, 10.1542/peds.74.5.866

Miles, 1957, The value and duration of defense reactions of the skin to the primary lodgement of bacteria, Br J Exp Pathol, 38, 79

Nagel, 1981, Enumeration of T lymphocyte subsets bymonoclonal antibodies in young and aged humans, J Immunol, 127, 1286, 10.4049/jimmunol.127.5.2086

Noguchi, 1993, Interleukin-2 Receptor Chain: A functional component of the interleukin-7 receptor, Science, 262, 1877, 10.1126/science.8266077

Noguchi, 1993, Interleukin-2 receptor gamma chain mutation results in X-linked severe combined immunodeficiency in humans, Cell, 73, 147, 10.1016/0092-8674(93)90167-O

Nunoi, 1988, Two forms of chronic granulomatous disease lack distinct neutrophil cytosol factors, Science, 242, 1298, 10.1126/science.2848319

Pantaleo, 1993, The immunopathogenesis of human immunodeficiency virus infection, N Engl J Med, 328, 327, 10.1056/NEJM199302043280508

Pyun, 1989, Human antibody responses to bacteriophage 0 x 174: Sequential induction of IgM and IgG antibody, Clin Immunol Immunopathol, 51, 252, 10.1016/0090-1229(89)90024-X

Rosen, 1984, The primary immunodeficiencies. Part 1, N Engl J Med, 311, 235, 10.1056/NEJM198407263110406

Rosen, 1984, The primary immunodeficiencies. Part 2, N Engl J Med, 311, 300, 10.1056/NEJM198408023110506

Russell, 1993, Interleukin-2 receptor chain: A functional component of the interleukin-4 receptor, Science, 262, 1880, 10.1126/science.8266078

Segal, 1983, Absence of cytochrome B245 in chronic granulomatous disease, N Engl J Med, 308, 245, 10.1056/NEJM198302033080503

Sorrell, 1971, Depression of immunologic function in patients treated with phenytoin sodium (sodium diphenylhydantoin), Lancet, 2, 1233, 10.1016/S0140-6736(71)90547-2

Stephan, 1993, Severe combined immunodeficiency: A retrospective single-center study of clinical presentation and outcome in 117 patients, J Pediatr, 123, 564, 10.1016/S0022-3476(05)80951-5

Stiehm, 1989, Immunodeficiency disorders: General considerations, 157

Teahan, 1987, The X-linked chronic granulomatous disease gene codes for the beta chain of cytochrome b245, Nature, 327, 720, 10.1038/327720a0

Thomas, 1983, Identification of lymphocyte subsets in the newborn using a variety of monoclonal antibodies, Arch Dis Child, 58, 34, 10.1136/adc.58.1.34

Tsukada, 1993, Deficient expression of a B cell cytoplasmic tyrosine kinase in human X-linked agammaglobulinemia, Cell, 72, 279, 10.1016/0092-8674(93)90667-F

VanDyke, 1980, Neutrophil chemotaxis dysfunction in human periodontitis, Infec Immun, 27, 124, 10.1128/iai.27.1.124-132.1980

Vercelli, 1993, Control of IgE synthesis, 93

Vetrie, 1993, The gene involved in X-linked agammaglobulinemia is a member of the src family of protein-tyrosine kinases, Nature, 361, 226, 10.1038/361226a0

Weissman, 1993, How the immune system develops, Sci Am, 269, 65, 10.1038/scientificamerican0993-64

Wilson, 1986, Immunologic basis for enhanced susceptibility of the neonate to infection, J Pediatr, 108, 1, 10.1016/S0022-3476(86)80761-2