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Inborn Errors of Immunity and Phagocytosis: Monograph based upon Proceedings of the Fifteenth Symposium of The Society for the Study of Inborn Errors of Metabolism PDF

393 Pages·1979·10.75 MB·English
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Preview Inborn Errors of Immunity and Phagocytosis: Monograph based upon Proceedings of the Fifteenth Symposium of The Society for the Study of Inborn Errors of Metabolism

Inborn Errors ·of Immunity and Phagocytosis Previous Symposia of the Society for the Study of Inborn Errors of Metabolism· 1. Neurometabolic Disorders in Childhood. Ed. K. S. Holt and J. Milner 1963 2. Biochemical Approaches to Mental Handicap in Children. Ed. J. D. Allan and K. S. Holt 1964 3. Basic Concepts of Inborn Errors and Defects of Steroid Biosynthesis. Ed. K. S. Holt and D. N. Raine 1965 4. Some Recent Advances in Inborn Errors of Metabolism. Ed. K. S. Holt and V. P. Coffey 1966 5. Some Inherited Disorders of Brain and Muscle. Ed. J. D. Allan and D. N. Raine 1969 6. Enzymopenic Anaemias, Lysosomes and other papers. Ed. J. D. Allan, K. S. Holt, J. T. Ireland and R. J. Pollitt 1969 7. Errors of Phenylalanine Thyroxine and Testosterone Metabolism. Ed. W. Hamilton and F. P. Hudson 1970 8. Inherited Disorders of Sulphur Metabolism. Ed. N. A. J. Carson and D. N. Raine 1971 9. Organic Acidurias. Ed. J. Stern and C. Toothill1972 10. Treatment of Inborn Errors of Metabolism. Ed. J. W. T. Seakins, R. A. Saunders and C. Toothill 1973 11. Inborn Errors of Skin, Hair and Connective Tissue. Ed. J. B. Holton and J. T. Ireland 1975 12. Inborn Errors of Calcium and Bone Metabolism. Ed. H. Bickel and J. Stern 1976 13. Medico-Social Management of Inherited Metabolic Disease. Ed., D. N. Raine 1977 14. The Cultured Cell and Inherited Metabolic Disease. Ed. R. A. Harkness and F. Cockburn 1977 The Society exists to promote exchanges of ideas between workers in different disciplines who are interested in any aspect of inborn metabolic disorders. Particulars of the Society can be obtained from the Editors of this Symposium. • Symposia 1-10 published by E. & S. Livingstone I nborn Errors of Immunity and Phagocytosis Monograph based upon Proceedings of the Fifteenth Symposium of The Society for the Study of Inborn Errors of Metabolism Edited by F. Guttier J. W. T. Seakins and R. A. Harkness ~ . MTPP RES~S LIMITED International Medical Publishers Published by MTP Press Limited Falcon House Lancaster England Copyright © 1979 The Society for the Study of Inborn Errors of Metabolism Softcover reprint of the hardcover 1s t edition 1979 All rights reserved. No part of this publication may be reproduced, stored in a retrieval system, or transmitted in any form or by any means, electronic, mechanical, photocopying, recording or otherwise, without prior permission from the publishers. ISBN-13: 978-94-011-6199-2 e-ISBN-13: 978-94-011-6197-8 001: 10.1007/978-94-011-6197-8 Contents List of Contributors ix Preface xv SECTION ONE Defects of Cell-mediated Immunity 1 I mmunodeficiency diseases - a review 3 R. N. Pahwa, S. G. Pahwa, R. O·Reilly, Elizabeth M. Smithwick and R. A. Good 2 Genetics of the immune system 69 A. Svejgaard, E. Dickmeiss, G. S. Hansen, P. Platz, L. P. Ryder and M. Thomsen SECTION TWO Enzyme Defects and Immunodeficiency 3 Inborn errors of specific immunity: adenosine deaminase deficiency and purine nucleoside phosphorylase deficiency - The Milner Lecture 89 H. J. Meuwissen, K. Parker and B. Cook 4 Adenosine deaminase deficiency: enzyme replacement therapy and investigations of the biochemical basis of immunodeficiency 105 S. H. Polmar v vi INBORN ERRORS OF IMMUNITY AND PHAGOCYTOSIS 5 Prenatal diagnosis and heterozygote detection in adenosine deaminase deficiency 121 Rochelle Hirschhorn 6 Pathogenic mechanisms in deficiencies of adenosine deaminase and purine nucleoside phosphorylase 129 D.A. Carson,J. Kaye andJ. E. Seegmiller 7 Purine nucleoside phosphorylase deficiency associated with cellular immunodeficiency: immunological studies during treatment 137 B. J. M. Zegers, J. W. Stoop, G. F. M. Hendrickx, S. K. Wadman and G. E. J. Staal 8 Purine nucleoside phosphorylase deficiency associated with cellular immunodeficiency: metabolic studies during treatment 147 S. K. Wadman, P. K. de Bree, G. F. M. Hendrickx, B. J. M. Zegers andJ. W. Stoop 9 Severe combined immunodeficiency with B lymphocytes: a selective defect of precursor T cells 155 C. Griscelli, A. Durandy and F. Dagui//ard 10 Purine metabolism and the control of lymphocyte proliferation. Effects of exogenous adenosine on normal human lymphocytes 167 T. Hovi 11 Activity of adenosine deaminase and purine nucleoside phosphorylase in lymphocytes of man, horse and cattle 173 W. J. M. Tax and J. H. Veerkamp 12 Ageing and activities of purine metabolizing enzymes in leukocytes 181 J. Mejer and P. Nygaard CONTENTS vii 13 Immune function in Down's syndrome 189 B~ BjiirksMn, O. Blick, B. Hiigglof and A. Tiirnvik SECTION THREE Disorders of Non-specific Immunity 14 Morphological and biochemical alterations of polymorphonuclear neutrophil (PMN) leukocytes from patients with inborn errors of phagocytic function: a comprehensive review 201 R. L. Baehner and L. A. Boxer 15 Experimental approaches to the role of mononuclear phagocytes in non-specific immunity 219 G. G. MacPherson 16 Molecular bases of the metabolic excitability of phagocytes 231 D. Romeo, P. Dri, P. Bellavite and F. Rossi 17 Chronic granulomatous disease - biochemistry with special reference to oxygen metabolism 247 A. W. Segal 18 The protective role of glutathione 261 D. Roos, R. S. Weening and J. A. Loos 19 Defective initiation of the metabolic stimulation in phagocytizing granulocytes 287 R. S. Weening, D. Roos and Margriet L. J. van Schaik 20 Modification of genetic expression in phagocytes 297 R. A. Harkness, M. Grant and S. M. Cockle viii INBORN ERRORS OF IMMUNITY AND PHAGOCYTOSIS 21 Neutrophil granulocyte chemotaxis in a reversible Boyden chamber 309 N. H. Valerius 22 Simplified tests of leukocytic function 315 S. alling, R. Hultborn and I. Mattsby-Baltzer 23 Antigen-induced neutrophil dysfunction in a patient with chronic eczema,recurrent 'cold' staphylococcal infections and hyperimmunoglobulinaemia E 323 K. Schopfer and K. Baerlocher 24 Lack of myeloperoxidase-mediated iodination in granulocytes from a patient with generalized pustular psoriasis 331 O. Stendahl, C. Dahlgren, J. Hed and L. Molin 25 Functional characteristics of neutrophil granulocytes from children with recurrent respiratory infections 341 J. H. Wandall, V. Binder, B. Friis and B. Bech 26 Pneumocystis carinii infection in a girl with chronic granulomatous disease treated with transfusions of granulocytes 349 F. Karup Pedersen, K. S. Johansen, J. Rosenkvist, I. Tygstrup and N. H. Valerius Discussion 353 SECTION FOUR Screening for Immunodeficiency Round Table Discussion 373 Index 387 List of Contributors O. BACK Department of Dermatology, University of Umea, S-901 85 Umea, Sweden R. L. BAEHNER Division of Pediatric Hematology-Oncology, James Whitcomb Riley Hospital for Children, Indianapolis, Indiana 46202, USA K. BAERLOCHER Children's Hospital, CH-9000 St. Gallen, Switzerland B. BECH Department of Pediatrics TG, Rigshospitalet University of Copenhagen, Denmark P. BELLAVITE Department of General Pathology, University of Trieste, 34127 Trieste, Italy V. BINDER Department of Medical Gastroenterology C, Herlev Hospital, DIC-2730 Herlev, University of Copenhagen, Denmark B. BJORKSTEN Department of Paediatrics, University of Umea, S-90 1 85 Umea, Sweden L. A. BOXER Division of Pediatric Hematology-Oncology, James Whitcomb Riley Hospital for Children, Indianapolis, Indiana 46202, USA P. K. de BREE University Children's Hospital, Het Wilhelmina Kinderziekenhuis, Utrecht, The Netherlands D.A. CARSON Division of Rheumatology, Department of Clinical Research, Scripps Clinic and Research Foundation, La Jolla, California 92037, USA S. M. COCKLE Division of Perinatal Medicine, MRC Clinical Research Centre, Harrow HA 1 3UJ, Middlesex B. COOK Department of Pediatrics, Albany Medical College,Albany, New York 12208,USA F. DAGUILLARD INSERM U132, Groupe de Recherches cflmmunologie et de ix x INBORN ERRORS OF IMMUNITY AND PHAGOCYTOSIS Rhumatologie Pediatriques, Hopital des Enfants Malades, 149 Rue de Sevres, 75015 Paris, France C.DAHLGREN Department of Medical Microbiology, University of Linkiiping, S-581 85 Linkiiping, Sweden E. DICKMEISS The Tissue-Typing Laboratory of the Blood Grouping Department, State University Hospital, DK-2100 Copenhagen f/J, Denmark P. DRI Department of General Pathology, University of Trieste, 34127 Trieste, Italy A. DURANDY INSERM U132, Groupe de Recherches d'immunologie et de Rhumatologie Pediatriques, Hopital des Enfants Malades, 149 Rue de Sevres, 75015 Paris, France O. FRIIS Department of Pediatrics TG, Rigshospitalet, University of Copenhagen Denmark R.A. GOOD Department of Immunology, Sloan-Kettering Institute for Cancer Research, New York, NY 10021, USA M.GRANT Department of Paediatric Biochemistry, Royal Hospital for Sick Children, Edinburgh c. GRISCELLI INSERM U132, Groupe de Recherches d'immunologie et de Rhumatologie Pediatriques, Hopital des Enfants Malades, 149 Rue de Sevres, 75015 Paris, France F. GOTTLER John F. Kennedy Institute, DK-2600 Glostrup, Denmark B. HAGGLOF Department of Paediatrics, University of Umea, S-90 1 85 Umea, Sweden G. S. HANSEN The Tissue-Typing Laboratory of the Blood Grouping Department, State University Hospital, DK-2100 Copenhagen f/J, Denmark R. A. HARKNESS Division of Perinatal Medicine, MRC Clinical Research Centre, Harrow HA 1 3UJ, Middlesex J. HED Department of Medical Microbiology, University of Linkoping, S-581 85 Linkoping, Sweden

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