title: Neutrophil functions in patients with inherited bone marrow failure syndromes.
abstract: BACKGROUND
  The inherited bone marrow failure syndromes (IBMFS) include Fanconi anemia, dyskeratosis congenita, Diamond-Blackfan anemia, and Shwachman-Diamond syndrome (SDS). Previous studies reported decreased neutrophil chemotaxis in patients with SDS; there are no reports of neutrophil function in other IBMFS. In this study we examined neutrophil respiratory burst function in IBMFS patients.
  
  
  METHODS
  Samples from 43 IBMFS patients and 61 healthy family members were collected, shipped, and analyzed within 24 hr. We also studied samples from 12 healthy control persons immediately after collection. Neutrophils were stimulated with phorbol 12-myristate acetate (PMA) and N-formyl-methyonyl-leucyl-phenylalanine (fMLP), and respiratory burst analyzed by reduction of dihydro-rhodamine and cytochrome c.
  
  
  RESULTS
  There was no significant difference in the degree of fMLP or PMA-driven respiratory burst activity between each of the IBMFS subgroups and their respective family members. There was also no difference in respiratory burst activity between any IBMFS, pooled group of all healthy family members and healthy controls.
  
  
  CONCLUSIONS
  Neutrophil respiratory burst activity from IBMFS patients does not differ from that of healthy family members and controls.
authors.affiliation: Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Department of Health and Human Services, Bethesda, Maryland 20852-7231, USA.
authors.forename: Andrzej
authors.initials: A
authors.lastname: Rochowski
authors.forename: Chunxiang
authors.initials: C
authors.lastname: Sun
authors.forename: Michael
authors.initials: M
authors.lastname: Glogauer
authors.forename: Blanche P
authors.initials: BP
authors.lastname: Alter
mesh_terms: D029502:Anemia, Hypoplastic, Congenital / Q000276:immunology*; D001855:Bone Marrow Diseases / Q000276:immunology; D016022:Case-Control Studies; D019871:Dyskeratosis Congenita / Q000276:immunology*; D010188:Exocrine Pancreatic Insufficiency / Q000276:immunology; D006801:Humans; D008068:Lipomatosis; D009504:Neutrophils / Q000378:metabolism*; D016897:Respiratory Burst; D000081003:Shwachman-Diamond Syndrome