Inborn Errors of Immunity Manifesting as Atopic Disorders.

Aug 26, 2021

Contributor: Maryam Vaseghi-Shanjani,Kelsey L Smith,Rahnuma J Sara,Bhavi P Modi,Anna Branch,Mehul Sharma,Henry Y Lu,Elliot L James,Kyla J Hildebrand,Catherine M Biggs,Stuart E Turvey

Inborn Errors of Immunity Manifesting as Atopic Disorders.

Inborn errors of immunity (IEIs) are traditionally best known for enhanced susceptibility to infections. However, allergic inflammation, among other types of immune dysregulation, occurs frequently in IEIs. As such, the term primary atopic disorders (PADs) was recently coined to describe the group of heritable monogenic allergic disorders. It is becoming increasingly important for clinicians to recognize that allergic diseases such as food allergy, atopic dermatitis, and allergic asthma are expressions of misdirected immunity, and in patients who present with severe, early onset or coexisting allergic conditions, these can be indications of an underlying PAD. Identifying monogenic allergic disease through next-generation sequencing (NGS) can dramatically improve outcomes by allowing the use of precision-based therapy that targets the patient’s underlying molecular defect. It is therefore imperative that clinicians recognize PADs to be able to provide informed therapeutic options and improve patient outcomes. Here, we summarize the clinical features commonly seen with each of the currently known PADs, we identify clinical warning signs that warrant assessment for PADs, and lastly, we discuss the benefits of timely diagnosis and management of these conditions.
Copyright © 2021. Published by Elsevier Inc.

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About The Expert

Maryam Vaseghi-Shanjani

Department of Pediatrics, British Columbia Children’s Hospital, The University of British Columbia, Vancouver, BC, Canada; Experimental Medicine Program, Faculty of Medicine, The University of British Columbia, Vancouver, BC, Canada.

Kelsey L Smith

Department of Pediatrics, British Columbia Children’s Hospital, The University of British Columbia, Vancouver, BC, Canada.

Rahnuma J Sara

Department of Pediatrics, British Columbia Children’s Hospital, The University of British Columbia, Vancouver, BC, Canada.

Bhavi P Modi

Department of Pediatrics, British Columbia Children’s Hospital, The University of British Columbia, Vancouver, BC, Canada.

Anna Branch

Department of Pediatrics, British Columbia Children’s Hospital, The University of British Columbia, Vancouver, BC, Canada; Schulich School of Medicine & Dentistry, Western University, London, Ontario, Canada.

Mehul Sharma

Department of Pediatrics, British Columbia Children’s Hospital, The University of British Columbia, Vancouver, BC, Canada; Experimental Medicine Program, Faculty of Medicine, The University of British Columbia, Vancouver, BC, Canada.

Henry Y Lu

Department of Pediatrics, British Columbia Children’s Hospital, The University of British Columbia, Vancouver, BC, Canada.

Elliot L James

Department of Pediatrics, British Columbia Children’s Hospital, The University of British Columbia, Vancouver, BC, Canada.

Kyla J Hildebrand

Department of Pediatrics, British Columbia Children’s Hospital, The University of British Columbia, Vancouver, BC, Canada.

Catherine M Biggs

Department of Pediatrics, British Columbia Children’s Hospital, The University of British Columbia, Vancouver, BC, Canada; Experimental Medicine Program, Faculty of Medicine, The University of British Columbia, Vancouver, BC, Canada. Electronic address: cbiggs@bcchr.ca.

Stuart E Turvey

Department of Pediatrics, British Columbia Children’s Hospital, The University of British Columbia, Vancouver, BC, Canada; Experimental Medicine Program, Faculty of Medicine, The University of British Columbia, Vancouver, BC, Canada. Electronic address: sturvey@cw.bc.ca.

References

PubMed