Practice parameter for the diagnosis and management of ...

Practice parameter

Practice parameter for the diagnosis and management of primary immunodeficiency

Francisco A. Bonilla, MD, PhD, David A. Khan, MD, Zuhair K. Ballas, MD, Javier Chinen, MD, PhD, Michael M. Frank, MD, Joyce T. Hsu, MD, Michael Keller, MD, Lisa J. Kobrynski, MD, Hirsh D. Komarow, MD, Bruce Mazer, MD, Robert P. Nelson, Jr, MD, Jordan S. Orange, MD, PhD, John M. Routes, MD, William T. Shearer, MD, PhD, Ricardo U. Sorensen, MD, James W. Verbsky, MD, PhD, David I. Bernstein, MD, Joann Blessing-Moore, MD, David Lang, MD, Richard A. Nicklas, MD, John Oppenheimer, MD, Jay M. Portnoy, MD, Christopher R. Randolph, MD, Diane Schuller, MD, Sheldon L. Spector, MD, Stephen Tilles, MD, Dana Wallace, MD

Chief Editor: Francisco A. Bonilla, MD, PhD

Co-Editor: David A. Khan, MD

Members of the Joint Task Force on Practice Parameters: David I. Bernstein, MD, Joann Blessing-Moore, MD, David Khan, MD, David Lang, MD, Richard A. Nicklas, MD, John Oppenheimer, MD, Jay M. Portnoy, MD, Christopher R. Randolph, MD, Diane Schuller, MD, Sheldon L. Spector, MD, Stephen Tilles, MD, Dana Wallace, MD

Primary Immunodeficiency Workgroup: Chairman: Francisco A. Bonilla, MD, PhD Members: Zuhair K. Ballas, MD, Javier Chinen, MD, PhD, Michael M. Frank, MD, Joyce T. Hsu, MD, Michael Keller, MD, Lisa J. Kobrynski, MD, Hirsh D. Komarow, MD, Bruce Mazer, MD, Robert P. Nelson, Jr, MD, Jordan S. Orange, MD, PhD, John M. Routes, MD, William T. Shearer, MD, PhD, Ricardo U. Sorensen, MD, James W. Verbsky, MD, PhD

These parameters were developed by the Joint Task Force on Practice Parameters, representing the American Academy of Allergy, Asthma & Immunology; the American College of Allergy, Asthma & Immunology; and the Joint Council of Allergy, Asthma & Immunology.

H.D.K. is supported by the Division of Intramural Research, National Institute of Allergy and Infectious Diseases (NIAID), National Institutes of Health (NIH), Bethesda, Md.

Disclosure of potential conflict of interest: F. A. Bonilla has consultant arrangements with ADMA Biologics, Baxter, Cowen Group, CSL Behring, the Gerson-Lehrman Group, Grand Rounds Health, and the Immune Deficiency Foundation; has received research support from CSL Behring; has received payment for lectures from Albany Medical College; has received royalties from UpToDate in Medicine; and has received travel support from CSL Behring. D. A. Khan has received payment for lectures from Genentech, Merck, Baxter, and Viropharma; has received research support from the Vanberg Family Foundation and the National Institutes of Health (NIH)/National Institute of Mental Health; is the Allied Health Chair for the American College of Allergy, Asthma & Immunology; and is a member of the Joint Task Force to Practice Parameters for the Joint Council on Allergy, Asthma & Immunology. Z. K. Ballas has consulting arrangements with the Immune Deficiency Foundation; has received research support from the NIH Cancer Center; and has received royalties from UpToDate. M. M. Frank is on the DCMB for Biocryst and has received travel support from CSL Behring. M. Keller has received research support from the Jeffrey Modell Foundation. L. J. Kobrynski has consultant arrangements with CSL Behring; has received research support from the Centers for Disease Control and Prevention Foundation through the NIH; has received payment for lectures from Baxter Healthcare; and has received travel support and speakers' fees from the Immune Deficiency Foundation. J. S. Orange has consultant arrangements with Baxter Healthcare, CSL Behring, ASD Healthcare, ADMA Biologics, and Walgreens; has received research support from CSL Behring; has received payment for lectures from Baxter Healthcare; has received royalties from UpToDate, UniMed, and Springer; and is on the Medical Advisory Council of the Immune Deficiency Foundation. W. T. Shearer is employed by Baylor College of Medicine. J. W. Verbsky has received royalties from UpToDate. D. I. Bernstein has received research support from TEVA, Genentech, Pfizer, Merck, Meda, GlaxoSmithKline, Array, Cephalon, and MedImmune and has provided legal consultation or expert witness testimony in cases related to anaphylaxis, contact dermatitis, and occupational asthma. J. Blessing-Moore has received payment for lectures from Meda, Alcon, TEVA, Sunovion, Genentech/Novartis, Merck, and AstraZeneca; has received research support from Meda; and serves on committees for the American College of Chest Physicians, the American College of Allergy, Asthma & Immunology, the American Academy of Allergy, Asthma & Immunology, and the American Thoracic Society. D. Lang has consultant arrangements with

GlaxoSmithKline, Merck, and Aerocrine; has received payment for lectures from Genentech/ Novartis, GlaxoSmithKline, and Merck; and has received research support from Genentech/ Novartis and Merck. R. A. Nicklas is a committee chair for the American College of Allergy, Asthma & Immunology. J. Oppenheimer has consultant arrangements with AstraZeneca, GlaxoSmithKline, Sunovion, Mylan, and Sanofi; has received research support from AstraZeneca, GlaxoSmithKline, Merck, Novartis, Boehringer Ingelheim, and MedImmune; has provided legal consultation or expert witness testimony in cases related to malpractice; is chairman of the American Board of Allergy and Immunology; and is Associate Editor of the Annals of Allergy. J. M. Portnoy has received payment for lectures from Thermo Fisher and Mylan and has consultant arrangements with Thermo Fisher and Sanofi. C. R. Randolph has received payment for lectures from GlaxoSmithKline, TEVA, ViroPharma, Merck, and Dey; has received research support from GlaxoSmithKline, Merck, Amgen, and Genentech/Novartis; and has consultant arrangements with AstraZeneca and Meda. D. Schuller has received travel support from the Joint Council of Allergy, Asthma & Immunology for Joint Task Force meetings. S. L. Spector has stock in GlaxoSmithKline and Merck; has consultant arrangements with Hycor; has received research support from AstraZeneca, GlaxoSmithKline, Amgen, Genentech, Novartis, Teva, Mylan, Sanofi, and Boehringer Ingelheim; and is a speaker/ moderator for the American College of Allergy, Asthma & Immunology. S. Tilles has consultant arrangements with SRXA, Sunovion, and Hycor; has received research support from Astellas, Amphastar, Medimmune, Cephalon, Genentech, Merck, TEVA, Sunovion, Boehringer Ingelheim, Nutricia, Array, Rigel, and AstraZeneca; is Associate Editor of AllergyWatch and the Annals of Allergy; is Assistant Editor of the Joint Task Force for Practice Parameters; and is on the Executive Committee for the Seattle Food Allergy Consortium. D. Wallace has received payment for lectures from TEVA, Mylan Labs, and the American College of Allergy, Asthma & Immunology; is an advisor for Sanofi and Sunovion; is on the Executive Committee of the American College of Allergy, Asthma & Immunology; and is on the Board of Directors for the World Allergy Organization. The rest of the authors declare that they have no relevant conflicts of interest. Corresponding author: Francisco A. Bonilla, MD, PhD, Boston Children's Hospital, Boston, MA 02115. E-mail: francisco.bonilla@childrens.harvard.edu. Received for publication December 30, 2014; revised April 18, 2015; accepted for publication April 23, 2015. Available online September 12, 2015. 0091-6749

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The American Academy of Allergy, Asthma & Immunology (AAAAI) and the American College of Allergy, Asthma & Immunology (ACAAI) have jointly accepted responsibility for establishing the ``Practice parameter for the diagnosis and management of primary immunodeficiency.'' This is a complete and comprehensive document at the current time. The medical environment is a changing environment, and not all recommendations will be appropriate for all patients. Because this document incorporated the efforts of many participants, no single individual, including those who served on the Joint Task Force, is authorized to provide an official AAAAI or ACAAI interpretation of these practice parameters. Any request for information about or an interpretation of these practice parameters by the AAAAI or ACAAI should be directed to the Executive Offices of the AAAAI, the ACAAI, and the Joint Council of Allergy, Asthma & Immunology. These parameters are not designed for use by pharmaceutical companies in drug promotion. (J Allergy Clin Immunol 2015;136:1186-205.)

Discuss this article on the JACI Journal Club blog: jacionline..

Previously published practice parameters of the Joint Task Force on Practice Parameters for Allergy & Immunology are available at or .

CONTRIBUTORS The Joint Task Force has made a concerted effort to acknowl-

edge all contributors to this parameter. If any contributors have been excluded inadvertently, the Task Force will ensure that appropriate recognition of such contributions is made subsequently.

WORKGROUP CHAIR AND CHIEF EDITOR Francisco A. Bonilla, MD, PhD (Chair) Senior Associate Physician, Boston Children's Hospital Associate Professor of Pediatrics, Harvard Medical School Boston, Mass

JOINT TASK FORCE LIAISON AND CO-EDITOR David A. Khan, MD Associate Professor of Internal Medicine University of Texas Southwestern Medical Center Dallas, Tex

JOINT TASK FORCE MEMBERS David I. Bernstein, MD Professor of Clinical Medicine and Environmental Health Division of Immunology, Allergy and Rheumatology University of Cincinnati College of Medicine Cincinnati, Ohio

Joann Blessing-Moore, MD Adjunct Professor of Medicine and Pediatrics Stanford University Medical Center Department of Immunology Palo Alto, Calif

David M. Lang, MD Head, Allergy/Immunology Section Respiratory Institute Director, Allergy and Immunology Fellowship Training

Program Cleveland Clinic Foundation Cleveland, Ohio

Richard A. Nicklas, MD Clinical Professor of Medicine George Washington Medical Center Washington, DC

John Oppenheimer, MD Department of Internal Medicine New Jersey Medical School Pulmonary and Allergy Associates Morristown, NJ

Jay M. Portnoy, MD Chief, Section of Allergy, Asthma & Immunology The Children's Mercy Hospital Professor of Pediatrics University of Missouri-Kansas City School of Medicine Kansas City, Mo

Christopher C. Randolph, MD Professor Pediatrics/Allergy/Immunology Yale Affiliated Hospitals Center for Allergy, Asthma, & Immunology Waterbury, Conn

Diane E. Schuller, MD Emeritus, Professor of Pediatrics Emeritus Chief of Allergy and Immunology Pennsylvania State University, Milton S. Hershey Medical

College Hershey, Pa

Sheldon L. Spector, MD Clinical Professor of Medicine UCLA School of Medicine Los Angeles, Calif

Stephen A. Tilles, MD Clinical Assistant Professor of Medicine University of Washington School of Medicine Redmond, Wash

Dana Wallace, MD Assistant Clinical Professor of Medicine Nova Southeastern University College of Osteopathic

Medicine Davie, Fla

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WORKGROUP MEMBERS Zuhair K. Ballas, MD Director, Immunology Division Department of Internal Medicine, University of Iowa and the Iowa City Veteran's Administration Medical Center Iowa City, Iowa

Javier Chinen, MD, PhD Allergy and Immunology Consultant Lake Houston Allergy and Immunology Humble, Tex

Michael M. Frank, MD Samuel L. Katz Professor and Chairman of Pediatrics Professor of Immunology and Medicine, Department of

Pediatrics, Children's Health Center Duke University Medical Center Durham, NC

Joyce T. Hsu, MD Division of Rheumatology, Allergy and Immunology, Brigham

and Women's Hospital Instructor of Pediatrics, Harvard Medical School Boston, Mass

Michael Keller, MD Assistant Professor of Pediatrics Children's National Medical Center Washington, DC

Lisa J. Kobrynski, MD Assistant Professor of Pediatrics Emory University School of Medicine Atlanta, Ga

Jordan S. Orange, MD, PhD Chief, Immunology, Allergy and Rheumatology Director, Center for Human Immunobiology Texas Children's Hospital Professor of Pediatrics, Pathology and Immunology Associate Vice Chair, Department of Pediatrics Baylor College of Medicine Houston, Tex

John M. Routes, MD Chief, Allergy and Clinical Immunology Professor of Pediatrics and Medicine, Medical College of

Wisconsin Milwaukee, Wis

William T. Shearer, MD, PhD Allergy and Immunology Service, Texas Children's

Hospital Professor of Pediatrics and Immunology, Baylor College of

Medicine Houston, Tex

Ricardo U. Sorensen, MD Professor and Chairman, Department of Pediatrics Louisiana State University Health Science Center New Orleans, La

James W. Verbsky, MD, PhD Associate Professor of Pediatrics, and Microbiology and

Medical Genetics Medical College of Wisconsin Milwaukee, Wis

Hirsh D. Komarow, MD Staff Clinician Laboratory of Allergic Diseases National Institute of Allergy and Infectious Diseases National Institutes of Health Bethesda, Md

REVIEWERS Mark Ballow, MD, St Petersburg, Fla Thomas A. Fleisher, MD, Bethesda, Md Maite de la Morena, MD, Dallas, Tex Elena Perez, MD, Miami, Fla

Bruce Mazer, MD Division Head, Allergy and Immunology, McGill University Health Center-Montreal Children's Hospital Professor of Pediatrics, McGill University Montreal, Quebec, Canada

CLASSIFICATION OF RECOMMENDATIONS AND EVIDENCE

Classification of recommendations and evidence are listed in Table I.

Robert P. Nelson, Jr, MD Professor of Medicine and Pediatrics Divisions of Hematology and Oncology and Stem Cell

Transplantation Director, Pediatric Immunodeficiency Clinic, Riley Hospital Indiana University School of Medicine and the IU Melvin and

Bren Simon Cancer Center Indianapolis, Ind

SUMMARY OF CONFLICT OF INTEREST DISCLOSURES

The following is a summary of interests disclosed on workgroup members' conflict of interest disclosure statements (not including information concerning family member interests). Completed conflict of interest disclosure statements are available on request.

J ALLERGY CLIN IMMUNOL VOLUME 136, NUMBER 5

BONILLA ET AL 1189

Workgroup member Francisco A. Bonilla, MD, PhD

David A. Khan, MD Zuhair K. Ballas, MD Javier Chinen, MD, PhD Michael M. Frank, MD Joyce T. Hsu, MD Michael Keller, MD Lisa Kobrynski, MD Hirsh D. Komarow, MD Bruce Mazer, MD Robert P. Nelson, Jr, MD Jordan S. Orange, MD, PhD

John M. Routes, MD William T. Shearer, MD, PhD Ricardo U. Sorensen, MD James W. Verbsky, MD, PhD

Disclosures

Consultant: ADMA Biologics; Baxter; The Cowen Group; CSL Behring; Gerson-Lehrman Group; Grand Rounds Health; Immune Deficiency Foundation. DSMB: Octapharma. UpToDate in Medicine.

Speaker: Baxter; Genentech. UpToDate in Medicine. No conflicts. No conflicts. No conflicts. Grants: NIH. Grants: Baxter; CSL Behring. No conflicts. Grants: Novartis; Grifols; Baxter. No conflicts. Consulting: CSL Behring; Baxter;

Octapharma; BPL. DSMB: Atlantic Research. Grant: Baxter. No conflicts. No conflicts. No conflicts.

RESOLUTION OF NONDISQUALIFYING INTERESTS The Joint Task Force recognizes that experts in a field are likely

to have interests that could come into conflict with the development of a completely unbiased and objective practice parameter. To take advantage of that expertise, a process has been developed to prevent potential conflicts from influencing the final document in a negative way.

At the workgroup level, members who have a potential conflict of interest either do not participate in discussions concerning topics related to the potential conflict or, if they do write a section on that topic, the workgroup completely rewrites it without their involvement to remove potential bias. In addition, the entire document is then reviewed by the Joint Task Force, and any apparent bias is removed at that level. Finally, the practice parameter is sent for review both by invited reviewers and by anyone with an interest in the topic by posting the document on the Web sites of the ACAAI and the AAAAI.

PROTOCOL FOR FINDING EVIDENCE A search of the medical literature on PubMed was performed

for a variety of terms that were considered relevant to this practice parameter. All reference types were included in the results. References identified as being relevant were searched for other relevant references. Published clinical studies were rated by category of evidence and used to establish the strength of the recommendations. The parameter was subsequently appraised by reviewers designated by the AAAAI and ACAAI. Based on this process, this parameter represents an evidence-based and broadly accepted consensus document.

PREFACE The purpose of this ``Practice parameter for the diagnosis and

management of primary immunodeficiency'' is to provide the

Abbreviations used AAAAI: American Academy of Allergy, Asthma & Immunology ACAAI: American College of Allergy, Asthma & Immunology

HSCT: Hematopoietic stem cell therapy JCAAI: Joint Council of Allergy, Asthma & Immunology PIDD: Primary immunodeficiency disease

SCID: Severe combined immunodeficiency SS: Summary statement

consultant allergist/immunologist or other practitioner with a practical guide for the clinical recognition and diagnosis of immunodeficiency, along with the general principles that guide management of these disorders. This document was developed by a working group under the aegis of the 3 national allergy and immunology societies: the American Academy of Allergy, Asthma & Immunology (AAAAI); the American College of Allergy, Asthma & Immunology (ACAAI); and the Joint Council of Allergy, Asthma & Immunology (JCAAI). The Joint Task Force on Practice Parameters has published many practice parameters for the field of allergy/immunology. These can be found online at (note that login with JCAAI membership ID and password is required for access).

The first ``Practice parameter for the diagnosis and management of primary immunodeficiency'' was published in 1995.1 It was completely rewritten and updated in 20052 and has been brought up to date once again now. The classification of the immune deficiency disorders described herein now follows the system developed by the World Health Organization (WHO) and International Union of Immunological Societies (IUIS).3

This parameter was developed by a working group made up of clinical immunologists specializing in immunodeficiency. A workgroup chaired by Dr Francisco A. Bonilla prepared the initial draft, which was subsequently reviewed by the Joint Task Force. The working draft of ``Diagnosis and management of primary immunodeficiency'' was reviewed by several experts in allergy and immunology. These experts included reviewers appointed by the ACAAI and AAAAI. The revised final document presented here was approved by the sponsoring organizations and represents an evidence-based and broadly accepted consensus parameter. The project was exclusively funded by the 3 allergy and immunology societies noted above.

A principal aim of this practice parameter is to organize current knowledge and practice in the diagnosis and management of primary immunodeficiency diseases (PIDDs). Preparation of this parameter included a review of the medical literature, mainly through the PubMed database. Published clinical studies or reports were rated by category of evidence and used to establish the strength of a clinical recommendation (Table I).4 There are few randomized trials in the diagnosis and management of primary immunodeficiency. Thus the great majority of these recommendations represent evidence from published case series or reports or the opinions of experts in the field.

The pathophysiology of these disorders will not be discussed in detail; ample material can be found in the literature cited. The parameter consists of 239 summary statements (SSs). Each SS is formulated in a directive manner and contains a specific

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TABLE I. Classification of evidence and recommendations

Recommendation rating scale

Statement

Definition

Implication

Strong recommendation (StrRec) Moderate (Mod) Weak

A strong recommendation means the benefits of the recommended approach clearly exceed the harms (or that the harms clearly exceed the benefits in the case of a strong negative recommendation) and that the quality of the supporting evidence is excellent (Grade A or B).* In some clearly identified circumstances, strong recommendations can be made based on lesser evidence when high-quality evidence is impossible to obtain and the anticipated benefits strongly outweigh the harms.

A recommendation means the benefits exceed the harms (or that the harms exceed the benefits in the case of a negative recommendation), but the quality of evidence is not as strong (Grade B or C).* In some clearly identified circumstances, recommendations can be made based on lesser evidence when high-quality evidence is impossible to obtain and the anticipated benefits outweigh the harms.

A weak recommendation means that either the quality of evidence that exists is suspect (Grade D)* or that welldone studies (Grade A, B, or C)* show little clear advantage to one approach versus another.

Clinicians should follow a strong recommendation unless a clear and compelling rationale for an alternative approach is present.

Clinicians should also generally follow a recommendation but should remain alert to new information and sensitive to patient preferences.

Clinicians should be flexible in their decision making regarding appropriate practice, although they can set bounds on alternatives; patient preference should have a substantial influencing role.

No recommendation (NoRec)

No recommendation means there is both a lack of pertinent evidence (Grade D) and an unclear balance between benefits and harms.

Clinicians should have little constraint in their decision making and be alert to new published evidence that clarifies the balance of benefit versus harm; patient preference should have a substantial influencing role.

Category of evidence*

Ia

Evidence from meta-analysis of randomized controlled trials

Ib

Evidence from at least 1 randomized controlled trial

IIa

Evidence from at least 1 controlled study without randomization

IIb

Evidence from at least 1 other type of quasiexperimental study

III

Evidence from nonexperimental descriptive studies, such as comparative studies, correlation studies, and case-control

studies

IV

Evidence from expert committee reports or opinions, clinical experience of respected authorities, or both

LB

Evidence from laboratory-based studies

Strength of recommendation

A

Directly based on category I evidence

B

Directly based on category II evidence or extrapolated from category I evidence

C

Directly based on category III evidence or extrapolated from category I or II evidence

D

Directly based on category IV evidence or extrapolated from category I, II, or III evidence

E

Directly based on category LB evidence

F

Based on consensus of the Joint Task Force on Practice Parameters

*Adapted from Shekelle et al,4 with permission.

recommendation for diagnosis or management in general, for a specific disorder, or for a group of disorders. The SSs are annotated to provide a rationale or further elaboration along with literature references. The SSs and references are also ``graded'' according to the Classification of Recommendations and Evidence (Table I). The SSs are divided into 9 sections. The first section contains general principles of diagnosis and management of PIDDs. The remaining 8 sections provide more detail regarding specific diseases or groups of diseases. In addition to the SSs, the parameter contains annotated algorithms and tables regarding diagnostic principles in various categories of PIDDs.

Although developed principally with the consultant allergist/ immunologist as the target audience, it is hoped that the parameter will also serve as a useful reference tool for physicians at all levels of training and in other disciplines as well. Other health care providers and administrators in the managed care or insurance

fields might also find useful information here. The developers of this parameter hope to encourage wider recognition of primary immunodeficiency, increase uniformity and efficiency in evaluation, and enhance consistent application of specific diagnoses. Furthermore, it is hoped that improved understanding of the principles of management of these diseases will lead to better outcomes for these patients and their families.

EXECUTIVE SUMMARY Primary immunodeficiencies are inherited disorders of immune

system function that predispose affected subjects to an increased rate and severity of infection, immune dysregulation with autoimmune disease and aberrant inflammatory responses, and malignancy. Primary immunodeficiencies are distinct from secondary immunodeficiencies that occur, for example, during certain viral

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