title: Hemophagocytic lymphohistiocytosis in a patient with deletion of 22q11.2.
abstract: We report on a new patient with deletion of 22q11 associated with hemophagocytic lymphohistiocytosis and a fatal outcome. She had minor facial anomalies and cardiac malformation corresponding to those described in del (22q11) syndrome, normal T and B cell function and NK activity; bone marrow aspiration showed active erythrophagocytosis. Our case in addition to two other children reported previously suggest that such a rare association between lymphocyte-macrophage activation and deletion of 22q11 may be more frequent than previously recognized.
authors.affiliation: Clinica Pediatrica, IRCCS Policlinico S. Matteo, Pavia, Italy.
authors.forename: M
authors.initials: M
authors.lastname: Aricò
authors.forename: A
authors.initials: A
authors.lastname: Bettinelli
authors.forename: R
authors.initials: R
authors.lastname: Maccario
authors.forename: R
authors.initials: R
authors.lastname: Clementi
authors.forename: G
authors.initials: G
authors.lastname: Bossi
authors.forename: C
authors.initials: C
authors.lastname: Danesino
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics; D002648:Child; D002675:Child, Preschool; D002872:Chromosome Deletion; D002892:Chromosomes, Human, Pair 22 / Q000235:genetics*; D005145:Face / Q000002:abnormalities; D017809:Fatal Outcome; D005260:Female; D005500:Follow-Up Studies; D006330:Heart Defects, Congenital / Q000150:complications / Q000235:genetics; D015616:Histiocytosis, Non-Langerhans-Cell / Q000150:complications / Q000473:pathology*; D006801:Humans; D007011:Hypoparathyroidism / Q000150:complications / Q000235:genetics; D007223:Infant; D007231:Infant, Newborn