Hemophagocytic lymphohistiocytosis in a patient with deletion of 22q11.2.
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.
Aricò
M
M
Clinica Pediatrica, IRCCS Policlinico S. Matteo, Pavia, Italy.
Bettinelli
A
A
Maccario
R
R
Clementi
R
R
Bossi
G
G
Danesino
C
C
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