Infections in patients with Shwachman-Diamond syndrome.
Shwachman-Diamond syndrome (OMIM 260400) is a multisystemic disorder characterized by pancreatic insufficiency, bone marrow dysfunction, skeletal abnormalities and immune dysfunction. Prompted by the case of a 13-year-old girl with Shwachman-Diamond syndrome who presented with pneumonia attributable to Pseudomonas aeruginosa, we review infectious complications of this disease. Pneumonia, recurrent otitis media and skin infections/abscesses constitute the majority of infections among these children.
Grinspan
Zachary M
ZM
General Pediatrics Division, Massachusetts General Hospital for Children, Children's Hospital Boston, Boston, MA 02115, USA.
Pikora
Cheryl A
CA
D000293:Adolescent; D001424:Bacterial Infections / Q000209:etiology; D001855:Bone Marrow Diseases / Q000150:complications* / Q000235:genetics; D010188:Exocrine Pancreatic Insufficiency / Q000150:complications* / Q000235:genetics; D005260:Female; D006801:Humans; D009894:Opportunistic Infections / Q000209:etiology*; D013577:Syndrome; D014777:Virus Diseases / Q000209:etiology