title: Cytomegalovirus pneumonia as the first manifestation of severe combined immunodeficiency.
abstract: Severe combined immunodeficiency (SCID) is characterized by the absence of functional T lymphocytes and impairment of adaptive immunity. While heterogeneity of the genetic background in SCID leads to the variability of immune phenotypes, most of affected newborns appear healthy but within the first few months they develop life-threatening opportunistic respiratory or gastrointestinal tract infections. The objective of the study was to define the presenting features and etiology of infections in children with SCID. We retrospectively reviewed five children in whom the diagnosis of SCID had been established in our pediatric immunology clinic over the last 10-year period. A viral respiratory tract infection was the first manifestation of SCID in all the children studied. Cytomegalovirus (CMV) pneumonia was recognized in as many as 4 cases and coronavirus pulmonary infection was diagnosed in one case, whereas Pneumocystis jiroveci was identified as a co-pathogen in one CMV-infected patient. Severe combined immunodeficiency is a pediatric emergency condition and given the significant impact of pulmonary CMV infection in SCID children, establishing an accurate etiological diagnosis is of essential importance in instituting the specific treatment and improving the outcome.
authors.affiliation: Department of Pediatric Pneumonology, Allergology and Clinical Immunology, Poznan University of Medical Sciences, Poznan, Poland.
authors.forename: Aleksandra
authors.initials: A
authors.lastname: Szczawińska-Popłonyk
authors.affiliation: Department of Pediatric Radiology, Poznan University of Medical Sciences, Poznan, Poland.
authors.forename: Katarzyna
authors.initials: K
authors.lastname: Jończyk-Potoczna
authors.affiliation: Department of Pediatric Pneumonology, Allergology and Clinical Immunology, Poznan University of Medical Sciences, Poznan, Poland.
authors.forename: Lidia
authors.initials: L
authors.lastname: Ossowska
authors.affiliation: Department of Pediatric Pneumonology, Allergology and Clinical Immunology, Poznan University of Medical Sciences, Poznan, Poland.
authors.forename: Anna
authors.initials: A
authors.lastname: Bręborowicz
authors.affiliation: Department of Pediatric Anesthesiology and Intensive Care, Poznan University of Medical Sciences, Poznan, Poland.
authors.forename: Alicja
authors.initials: A
authors.lastname: Bartkowska-Śniatkowska
authors.affiliation: Department of Pediatric Hematooncology, Poznan University of Medical Sciences, Poznan, Poland.
authors.forename: Jacek
authors.initials: J
authors.lastname: Wachowiak
keywords: children; cytomegalovirus; pneumonia; severe combined immunodeficiency