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Canadian Respiratory Journal
Volume 21, Issue 1, Pages 17-19
http://dx.doi.org/10.1155/2014/404506
Clinico-Pathologic Conferences

The Respiratory Presentation of Severe Combined Immunodeficiency in Two Mennonite Children at a Tertiary Centre Highlighting the Importance of Recognizing This Pediatric Emergency

Simon Lam,1 Fotini D Kavadas,2 Seemab Haider,3 and Mary E Noseworthy4

1Department of Pediatrics, Alberta Children’s Hospital, Calgary, Alberta, Canada
2Section of Allergy and Immunology, Alberta Children’s Hospital, Calgary, Alberta, Canada
3Department of Diagnostic Imaging, Alberta Children’s Hospital, Calgary, Alberta, Canada
4Section of Respiratory Medicine, Alberta Children’s Hospital, Calgary, Alberta, Canada

Copyright © 2014 Hindawi Publishing Corporation. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

Abstract

Severe combined immunodeficiency (SCID) is considered to be a pediatric emergency, with respiratory distress being the most common presenting symptom. The authors present two cases of SCID in children <4 months of age with respiratory distress at a tertiary care centre due to a recently described homozygous CD3 delta mutation found only in the Mexican Mennonite population. Failure to respond to broad-spectrum antibiotics prompted investigation for possible SCID. Bronchial alveolar lavage fluid from both patients grew Pneumocystis jiroveci, and flow cytometry revealed absent T cells. The CD3 delta gene is believed to be important in T cell differentiation and maturation. The present article reminds pediatricians and pediatric respirologists that the key to diagnosing SCID is to have a high index of suspicion if there is poor response to conventional therapies.