title: Clinical course in a patient with neutrophil-specific granule deficiency and rapid detection of neutrophil granules as a screening test.
abstract: OBJECTIVE
  Neutrophil-specific granule deficiency (SGD) is a rare, congenital disorder characterized by atypical neutrophil structure and function that results in frequent and severe bacterial infections. However, the clinical course of patients with SGD have not been described in detail because of the scarcity of the disease. We present the clinical course of an adult patient with SGD and propose a method for making an early diagnosis of SGD.
  
  
  METHODS
  A32-year-old Japanese woman with SGD had a small impetigo lesion on her face and experienced the rapid spread of a facial abscess to a pulmonary abscess via the blood stream. We also analyzed the expression of neutrophil granule proteins in our patient compared with a healthy control by flow cytometry.
  
  
  RESULTS
  We confirmed defects of several neutrophil granule proteins in our patient by flow cytometry.
  
  
  CONCLUSIONS
  Severe bacterial infections sometimes occur and spread rapidly in SGD. Detection of neutrophil granules by flow cytometry is useful for a rapid diagnosis and a screening of SGD.
authors.affiliation: Department of Pediatrics, Shinshu University School of Medicine, Matsumoto, 390-8621, Japan.
authors.forename: Tomonari
authors.initials: T
authors.lastname: Shigemura
authors.forename: Takashi
authors.initials: T
authors.lastname: Yamazaki
authors.forename: Masaaki
authors.initials: M
authors.lastname: Shiohara
authors.forename: Norimoto
authors.initials: N
authors.lastname: Kobayashi
authors.forename: Kuniaki
authors.initials: K
authors.lastname: Naganuma
authors.forename: Kenich
authors.initials: K
authors.lastname: Koike
authors.forename: Kazunaga
authors.initials: K
authors.lastname: Agematsu
mesh_terms: D000209:Acute-Phase Proteins / Q000378:metabolism; D000328:Adult; D019072:Antibiotic Prophylaxis; D023181:Antimicrobial Cationic Peptides / Q000378:metabolism; D001798:Blood Proteins / Q000378:metabolism; D022762:CCAAT-Enhancer-Binding Proteins / Q000235:genetics; D003646:Debridement; D023082:Defensins / Q000378:metabolism; D005260:Female; D005434:Flow Cytometry; D006801:Humans; D007153:Immunologic Deficiency Syndromes / Q000175:diagnosis* / Q000235:genetics / Q000628:therapy; D007169:Impetigo / Q000175:diagnosis* / Q000235:genetics / Q000628:therapy; D007564:Japan; D007781:Lactoferrin / Q000378:metabolism; D000071068:Lipocalin-2; D054834:Lipocalins / Q000378:metabolism; D008169:Lung Abscess / Q000175:diagnosis* / Q000235:genetics / Q000628:therapy; D009154:Mutation / Q000235:genetics; D009504:Neutrophils / Q000378:metabolism* / Q000473:pathology; D009195:Peroxidase / Q000378:metabolism; D011518:Proto-Oncogene Proteins / Q000378:metabolism; D022142:Secretory Vesicles / Q000378:metabolism*; D054804:Cathelicidins
chemical_list: D000209:Acute-Phase Proteins; D023181:Antimicrobial Cationic Peptides; D001798:Blood Proteins; D022762:CCAAT-Enhancer-Binding Proteins; D023082:Defensins; C489506:LCN2 protein, human; D000071068:Lipocalin-2; D054834:Lipocalins; D011518:Proto-Oncogene Proteins; C053368:cationic antimicrobial protein 57, human; C070790:CEBPE protein, human; D009195:Peroxidase; D007781:Lactoferrin; D054804:Cathelicidins
references.citation: Blood. 1999 May 1;93(9):3096-105
references.pmid: 10216107
references.citation: Genomics. 1996 Jul 1;35(1):30-8
references.pmid: 8661101
references.citation: Blood. 1993 Jul 1;82(1):268-73
references.pmid: 8324226
references.citation: Blood. 1997 Oct 1;90(7):2591-600
references.pmid: 9326225
references.citation: N Engl J Med. 1974 Feb 28;290(9):478-84
references.pmid: 4129798
references.citation: J Clin Immunol. 1984 Jan;4(1):23-30
references.pmid: 6321538
references.citation: Gut. 2006 Feb;55(2):292-3
references.pmid: 16407388
references.citation: J Leukoc Biol. 2004 Feb;75(2):190-7
references.pmid: 14576362
references.citation: Blood. 1999 Nov 1;94(9):3141-50
references.pmid: 10556201
references.citation: Blood. 2001 May 1;97(9):2561-7
references.pmid: 11313242
references.citation: J Exp Med. 1999 Jun 7;189(11):1847-52
references.pmid: 10359588
references.citation: Blood. 1997 May 15;89(10):3503-21
references.pmid: 9160655
references.citation: J Pediatr. 1979 Jan;94(1):19-25
references.pmid: 758416
references.citation: N Engl J Med. 1982 Aug 12;307(7):404-10
references.pmid: 7088114
references.citation: Int J Hematol. 1994 Feb;59(2):137-42
references.pmid: 8018907