Published online August 1, 2005
PEDIATRICS Vol. 116 No. 3 September 2005, pp. e457-e460 (doi:10.1542/peds.2005-0371)

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ELECTRONIC ARTICLE

Complete DiGeorge Anomaly in the Absence of Neonatal Hypocalcemia and Velofacial and Cardiac Defects

Salem Al-Tamemi, MD^*, Bruce Mazer, MD^*, David Mitchell, MD, Pedro Albuquerque, MD, Alessandra M. V. Duncan, PhD^||, Christine McCusker, MD^* and Nada Jabado, MD, PhD

^* Division of Allergy and Immunology
Division of Hemato-Oncology
Department of Radiology
^|| Department of Pathology, Montreal Children's Hospital, McGill University Health Center, Montreal, Quebec, Canada

We report an atypical case of complete DiGeorge (DG) anomaly that presented initially exclusively as severe combined immunodeficiency (SCID). The child had severe infections at diagnosis, in keeping with the SCID phenotype; however, normal lymphocyte counts and immunoglobulin levels were noted at admission, which delayed diagnosis. Importantly, the child presented without neonatal hypocalcemia or velofacial or cardiac abnormalities at the time of diagnosis, which masked underlying DG. This case outlines the difficulties in making the diagnosis of SCID in a timely manner and illustrates the variation in presentation of the 22q11.2 deletion syndrome. There should be a high index of suspicion for primary immunodeficiency among children with severe infections and, because management may vary, DG anomaly should be considered in the differential diagnosis of T^– B⁺ natural killer⁺ SCID.

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Key Words: primary immunodeficiency • stem cell transplant • thymic transplant • fluorescence in situ hybridization

Abbreviations: DG, DiGeorge • PID, primary immunodeficiency • SCID, severe combined immunodeficiency • BMT, bone marrow transplantation • NK, natural killer

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Accepted Apr 8, 2005.

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