Secondary Logo

Institutional members access full text with Ovid®

Fatal Pneumocystis jirovecii and Cytomegalovirus Infections in an Infant With Normal TRECs Count

Pitfalls of Newborn Screening for Severe Combined Immunodeficiency

Mendez-Echevarria, Ana, MD, PhD*; Gonzalez-Granado, Luis Ignacio, MD; Allende, Luis M., MD; De Felipe, Beatriz, PhD§; Teresa, Del Rosal, MD, PhD*; Calvo, Cristina, MD, PhD*; Perez-Martinez, Antonio, MD, PhD; Raquel, Ruiz-Garcia, MD; Neth, Olaf, MD, PhD

The Pediatric Infectious Disease Journal: February 2019 - Volume 38 - Issue 2 - p 157–160
doi: 10.1097/INF.0000000000002058
Immunology Reports
Buy

Newborn screening for severe combined immunodeficiency using T-cell receptor excision circles allows prompt diagnosis and initiation of supportive and curative therapy thereby reducing morbidity and mortality. However, profound combined immunodeficiencies with normal numbers of nonfunctional T cells will go undetected. We present a patient with calcium release-activated calcium channel gene (ORAI1) deficiency and normal T-cell receptor excision circle numbers observed after diagnosis at the age of 14 months who suffered from disseminated fatal cytomegalovirus and Pneumocystis jirovecii infection, demonstrating a potential pitfall of the current newborn screening program.

From the *General Paediatrics and Infectious and Tropical Diseases Department, Hospital La Paz-IdiPAZ, Madrid, Spain

Pediatric Infectious Diseases and Immunodeficiencies Unit

Immunology Department, Hospital Universitario 12 de Octubre, Madrid, Spain

§Paediatric Infectious Diseases Unit, Rheumatology and Immunodeficiencies Department, Hospital Infantil Universitario Virgen del Rocio, Instituto de Biomedicina, Seville, Spain

Pediatric Hematology and Oncology Department, Hospital La Paz-IdiPAZ, Madrid, Spain

Paediatric Infectious Diseases, Rheumatology and Immunodeficiencies Department, Hospital Infantil Universitario Virgen del Rocio, Instituto de Biomedicina, Seville, Spain.

Accepted for publication March 21, 2018.

The authors have no funding or conflicts of interest to disclose.

A.M.-E. and G.-G.L.I. are shared first authors.

Address for correspondence: Ana Mendez-Echevarria, MD, PhD, General Paediatrics and Infectious and Tropical Diseases Department, Hospital La Paz-IdiPAZ, Paseo de la Castellana 261, 28046 Madrid, Spain. E-mail: amendezes@yahoo.es.

Copyright © 2019 Wolters Kluwer Health, Inc. All rights reserved.