Pulmonary Manifestations of Primary Immunodeficiency Diseases [1st ed.] 978-3-030-00879-6, 978-3-030-00880-2

Table of contents :
Front Matter ....Pages i-ix
General Considerations (Mikko Seppänen, Nima Rezaei)....Pages 1-36
Pulmonary Manifestations of Combined T- and B-Cell Immunodeficiencies (Andrew R. Gennery)....Pages 37-75
Pulmonary Manifestations of Predominantly Antibody Deficiencies (Amene Saghazadeh, Nima Rezaei)....Pages 77-120
Pulmonary Manifestations of Congenital Defects of Phagocytes (Seyed Amir Mohajerani, Marzieh Tavakol, Seyed Alireza Mahdaviani)....Pages 121-143
Pulmonary Manifestations of Genetic Disorders of Immune Regulation (Sebastian F. N. Bode, Ulrich Baumann, Carsten Speckmann)....Pages 145-168
Pulmonary Manifestations of Defects in Innate Immunity (Persio Roxo-Junior, Isabela Mina, Catherine Sonaly Ferreira Martins)....Pages 169-192
Pulmonary Manifestations of Autoinflammatory Disorders (Ahmadreza Jamshidi, Saeed Aslani, Mahdi Mahmoudi)....Pages 193-211
Pulmonary Manifestations of Complement Deficiencies (Anete Sevciovic Grumach, Kathleen E. Sullivan)....Pages 213-235
Pulmonary Manifestations of Other Well-Defined Immunodeficiencies (Man Amanat, Mona Salehi, Nima Rezaei)....Pages 237-256
Treatment of Pulmonary Manifestations of Primary Immunodeficiency Diseases (Nahal Mansouri, Davood Mansouri)....Pages 257-267

Citation preview

Pulmonary Manifestations of Primary Immunodeficiency Diseases Seyed Alireza Mahdaviani Nima Rezaei Editors

123

Pulmonary Manifestations of Primary Immunodeficiency Diseases

Seyed Alireza Mahdaviani  •  Nima Rezaei Editors

Pulmonary Manifestations of Primary Immunodeficiency Diseases

Editors Seyed Alireza Mahdaviani Pediatric Respiratory Diseases Research Center, National Research Institute of Tuberculosis and Lung Diseases (NRITLD) Shahid Beheshti University of Medical Sciences Tehran Iran

Nima Rezaei Research Center for Immunodeficiencies Children’s Medical Center Tehran University of Medical Sciences (TUMS) Tehran Iran Network of Immunity in Infection Malignancy and Autoimmunity (NIIMA) Universal Scientific Education and Research Network (USERN) Tehran Iran Department of Immunology School of Medicine Tehran University of Medical Sciences Tehran Iran

ISBN 978-3-030-00879-6    ISBN 978-3-030-00880-2 (eBook) https://doi.org/10.1007/978-3-030-00880-2 Library of Congress Control Number: 2018963301 © Springer Nature Switzerland AG 2019 This work is subject to copyright. All rights are reserved by the Publisher, whether the whole or part of the material is concerned, specifically the rights of translation, reprinting, reuse of illustrations, recitation, broadcasting, reproduction on microfilms or in any other physical way, and transmission or information storage and retrieval, electronic adaptation, computer software, or by similar or dissimilar methodology now known or hereafter developed. The use of general descriptive names, registered names, trademarks, service marks, etc. in this publication does not imply, even in the absence of a specific statement, that such names are exempt from the relevant protective laws and regulations and therefore free for general use. The publisher, the authors, and the editors are safe to assume that the advice and information in this book are believed to be true and accurate at the date of publication. Neither the publisher nor the authors or the editors give a warranty, express or implied, with respect to the material contained herein or for any errors or omissions that may have been made. The publisher remains neutral with regard to jurisdictional claims in published maps and institutional affiliations. This Springer imprint is published by the registered company Springer Nature Switzerland AG The registered company address is: Gewerbestrasse 11, 6330 Cham, Switzerland

Preface

Primary immunodeficiency diseases (PIDs) are a heterogeneous group of disorders, characterized by increased susceptibility of infections, mainly in respiratory system. More than 350 different PIDs have already been recognized and classified into 8 groups. Many patients with PIDs firstly present with upper and lower respiratory tract manifestations, while delay in diagnosis can lead to morbidity and even mortality of affected patients. Our understanding on PIDs is rapidly improving, which helps us in making definite diagnosis managing more efficiently. This book is an attempt to gather the most recent advances in pulmonary problems of patients with PIDs, where diagnosis and management of pulmonary manifestations have also been discussed. The first chapter gives an overview on PIDs and pulmonary manifestations of PIDs, in general. In Chaps. 2, 3, 4, 5, 6, 7, 8, and 9, pulmonary manifestations of eight groups of PIDs are discussed in detail. Treatment of pulmonary manifestations of PIDs is also presented in Chap. 10. We would like to acknowledge the expertise of all contributors for generously giving their time and considerable effort in preparing their respective chapters. We are also grateful to Springer for giving us the opportunity to publish this book, and we hope that this book will be comprehensible, cogent, and manageable for physicians and nurses, who wish to learn more about pulmonary manifestations of PIDs. Tehran, Iran Tehran, Iran

Nima Rezaei Seyed Alireza Mahdaviani

v

Acknowledgment

We would like to express our gratitude to the technical editor of this book, Dr. Sara Hanaei. Nima Rezaei Seyed Alireza Mahdaviani

vii

Contents

  1 General Considerations ����������������������������������������������������������������������������   1 Mikko Seppänen and Nima Rezaei   2 Pulmonary Manifestations of Combined T- and B-Cell Immunodeficiencies ����������������������������������������������������������������������������������  37 Andrew R. Gennery   3 Pulmonary Manifestations of Predominantly Antibody Deficiencies��������������������������������������������������������������������������������  77 Amene Saghazadeh and Nima Rezaei   4 Pulmonary Manifestations of Congenital Defects of Phagocytes���������� 121 Seyed Amir Mohajerani, Marzieh Tavakol, and Seyed Alireza Mahdaviani   5 Pulmonary Manifestations of Genetic Disorders of Immune Regulation�������������������������������������������������������������������������������������������������� 145 Sebastian F. N. Bode, Ulrich Baumann, and Carsten Speckmann   6 Pulmonary Manifestations of Defects in Innate Immunity�������������������� 169 Persio Roxo-Junior, Isabela Mina, and Catherine Sonaly Ferreira Martins   7 Pulmonary Manifestations of Autoinflammatory Disorders����������������� 193 Ahmadreza Jamshidi, Saeed Aslani, and Mahdi Mahmoudi   8 Pulmonary Manifestations of Complement Deficiencies������������������������ 213 Anete Sevciovic Grumach and Kathleen E. Sullivan   9 Pulmonary Manifestations of Other Well-­Defined Immunodeficiencies ���������������������������������������������������������������������������������� 237 Man Amanat, Mona Salehi, and Nima Rezaei 10 Treatment of Pulmonary Manifestations of Primary Immunodeficiency Diseases���������������������������������������������������������������������� 257 Nahal Mansouri and Davood Mansouri ix

Chapter 1

General Considerations Mikko Seppänen and Nima Rezaei

1.1  Lungs Are an Immunologic Battlefield Focus on the most obvious function of our lungs, gas exchange, has greatly shaped the practice of respiratory medicine. However, blood contributes approximately 40–50% of the weight of human lungs [1]. Our lungs harbor a wide range of hematopoietic progenitors, with the capacity to repopulate the bone marrow after irradiation. The lung is also an especial primary site for platelet biogenesis from megakaryocytes, responsible for the origin of 50% of our platelets [2]. For blood to oxygenate, circulating blood cells and their products traverse through the respiratory zone of lungs. Daily, over 10,000 L of ambient air in our lungs constantly and effectively exposes our immune system to the outside environment through an alveolar surface that exceeds 100–150 m2 in a human adult, which consists the largest epithelial surface in the body [3]. Consequently, our respiratory tract is equipped

M. Seppänen (*) Rare Disease Center, New Children’s Hospital, University of Helsinki and Helsinki University Hospital, Helsinki, Finland Adult Primary Immunodeficiency Clinic, Inflammation Center, University of Helsinki and Helsinki University Hospital, Helsinki, Finland e-mail: [email protected] N. Rezaei Research Center for Immunodeficiencies, Children’s Medical Center, Tehran University of Medical Sciences, Tehran, Iran Network of Immunity in Infection, Malignancy and Autoimmunity (NIIMA), Universal Scientific Education and Research Network (USERN), Tehran, Iran Department of Immunology, School of Medicine, Tehran University of Medical Sciences, Tehran, Iran e-mail: [email protected] © Springer Nature Switzerland AG 2019 S. A. Mahdaviani, N. Rezaei (eds.), Pulmonary Manifestations of Primary Immunodeficiency Diseases, https://doi.org/10.1007/978-3-030-00880-2_1

1

2

M. Seppänen and N. Rezaei

with a highly specialized localized immune system with an effective mucociliary clearance machinery and specialized type II alveolar cells which produce innate immunity surfactant proteins and cytokines. Type II cells in turn trigger resident immune cells like alveolar macrophages and dendritic cells as well as the highly complex adaptive immunity [4]. Any breaches in immunity, barrier, and clearance functions of the local or systemic immunity predispose our lungs to impaired, prolonged, and/or hyperactivated immune reactions [5]. Thus, it is no wonder that many genetic and acquired immune-mediated diseases affect the human respiratory system.

1.1.1  Introduction to Primary Immunodeficiency Diseases Many primary immunodeficiency diseases (PIDs) firstly present with lung and upper airway manifestations and symptoms, giving the well-versed practicing pulmonologist a unique opportunity to suspect these often highly debilitating and potentially fatal diseases, with no delay or undue ensuing mortality. PIDs are inherited, mostly monogenic and systemic disorders of immunity. Systemic PIDs are essentially diseases of hematopoietic immune cells with genetically impaired or dysregulated function. An increasing number of PIDs are due to impaired immunity caused by genetic dysregulation of immune pathways by organ-specific tissues like the skin [6]. Tissue-specific pulmonary PIDs (e.g., surfactant protein deficiencies, cystic fibrosis, primary ciliary dyskinesia syndromes) could be envisaged but are presently not classified as such and are thus outside the scope of this book, except when differential diagnostic issues are discussed. If suspecting PID, irrespective of a patient’s age, one should always exclude human immunodeficiency virus (HIV) infection and obtain careful information on received immunosuppressive treatments. If the onset of matching symptoms or findings precedes any immunomodulatory therapy, especially if the ensuing depth of given immunosuppression exceeds that normally seen, one should consider whether a patient’s immunodeficiency is truly secondary or indeed primary. In a rapidly growing number of PIDs and patients, the onset seems delayed well into adult life [7]. Currently, there are more than 350 known PIDs. In variable combinations, these diseases predispose individuals to infections, inflammatory complications, and malignancies, often hematologic or virally induced cancers. Dysregulated acquired immunity leads to autoimmunity and severe early-onset atopy, while dysregulated innate immunity may lead to autoinflammation and impaired barrier function. Similar to blood disorders, systemic PIDs often give rise to various hematologic findings like cytopenias; deficient, disorganized, or hypoplastic lymphatic system; lymphoproliferation; myelodysplasia; or bone marrow failure. Biopsies may further reveal aberrant immune reactions like granulomas or hemophagocytosis (Fig. 1.1).

1  General Considerations

Frequently recurring or chronic infections • Very-early onset (