Immunodeficiency Disorders

Ivan K. Chinn; Jordan S. Orange

doi:10.1542/pir.2017-0308

This article requires a subscription to view the full text. If you have a subscription you may use the login form below to view the article. Access to this article can also be purchased.

Download PDF

Ivan K. Chinn, MD*,^†
Jordan S. Orange, MD, PhD^‡,^§

^*Department of Pediatrics, Section of Immunology, Allergy, and Rheumatology, Baylor College of Medicine, Houston, TX
^†Center for Human Immunobiology, Texas Children’s Hospital, Houston, TX
^‡Department of Pediatrics, Columbia University College of Physicians and Surgeons, New York, NY
^§New York Presbyterian Morgan Stanley Children’s Hospital, New York, NY

AUTHOR DISCLOSURE
Dr Chinn has disclosed that he is the recipient of a Translational Research Program grant from the Jeffrey Modell Foundation. Dr Orange has disclosed that he is a consultant on the topic of therapeutic immunoglobulin for Shire, CSL Behring, and Grifols and that he serves on the scientific advisory board for ADMA Biologics. This commentary does contain a discussion of an unapproved/investigative use of a commercial product/device.

Abbreviations:

ALC absolute lymphocyte count:: ALPS autoimmune lymphoproliferative syndrome
CGD chronic granulomatous disease:: HIV human immunodeficiency virus
HLH hemophagocytic lymphohistiocytosis:: Ig immunoglobulin
PID primary immunodeficiency:: SCID severe combined immunodeficiency disease
SLE systemic lupus erythematosus:: TLR toll-like receptor

Education Gaps

Immunodeficiencies are no longer considered rare conditions. Although susceptibility to infections has become well-recognized as a sign of most primary immunodeficiencies, some children will present with noninfectious manifestations that remain underappreciated and warrant evaluation by an immunologic specialist. Providers must also consider common secondary causes of immunodeficiency in children.

Objectives

After completing this article, readers should be able to:

Recognize infectious signs and symptoms of primary immunodeficiency that warrant screening and referral to a specialist.
Understand noninfectious signs and symptoms that should raise concern for primary immunodeficiency.
Determine appropriate testing for patients for whom immunodeficiency is suspected.
Discuss the management of patients with primary immunodeficiency.
Appreciate secondary causes of immunodeficiency.

Introduction

Immunodeficiency disorders represent defects in the immune system that result in weakened or dysregulated immune defense. These deficiencies may occur as primary diseases or secondary conditions. This article reviews primary and secondary immunodeficiencies, with particular emphasis on the evaluation and management of children with primary immunodeficiencies (PIDs).

Primary Immunodeficiencies

PIDs constitute inherent defects in immunity, most of which arise from inborn deviations in the genetic code. More than 300 PIDs have been identified. These conditions have been placed into 9 categories corresponding with their clinical and immunologic phenotypes by an international group of experts who evaluate these diseases every 2 years (Table 1). (1) Although PIDs were previously believed to represent rare conditions, they are now known to affect 1 of every 1,200 to …