A case of syndromic neutropenia and mutation in G6PC3

Journal of Pediatric Hematology/Oncology

Volumn 33, Issue 2, 2011, Pages 138-140

  Gatti, Simona ^a   Boztug, Kaan ^b   Pedini, Annalisa ^a   Pasqualini, Claudia ^a   Albano, Veronica ^a   Klein, Christoph ^b   Pierani, Paolo ^a  

^a UNIVERSITÀ POLITECNICA DELLE MARCHE   (Italy)

^b HANNOVER MEDICAL SCHOOL   (Germany)

Author keywords

congenital heart disease; congenital neutropenia; G CSF; G6PC3; glucose 6 phosphatase; hearing defects; recurrent infections; urogenital defects

Indexed keywords

ADENINE; ANTIBIOTIC AGENT; GLUCOSE 6 PHOSPHATASE; GLUCOSE 6 PHOSPHATASE CATALYTIC SUBUNIT 3; GUANINE; MEROPENEM; RECOMBINANT GRANULOCYTE COLONY STIMULATING FACTOR; UNCLASSIFIED DRUG;

ANEMIA; ARTICLE; BLOOD CELL COUNT; CASE REPORT; CELL HYPERPLASIA; CHILD; DISEASE SEVERITY; ECUADOR; ENZYME DEFICIENCY; FEVER; G6PC3 ENE; GASTROINTESTINAL INFECTION; GENE; GENE DELETION; GENE MUTATION; GLUCOSE 6 PHOSPHATASE CATALYTIC SUBUNIT 3 DEFICIENCY; HEPATOMEGALY; HUMAN; HUMAN CELL; INFECTION; LEUKOPENIA; MALE; MOUTH ULCER; NEUTROPENIA; PRIORITY JOURNAL; PROCTITIS; THROMBOCYTE TRANSFUSION; THROMBOCYTOPENIA;

ABNORMALITIES, MULTIPLE; CELL DIFFERENTIATION; CHILD; GLUCOSE-6-PHOSPHATASE; HUMANS; MALE; MUTATION; NEUTROPENIA; SYNDROME;

EID: 79952189099     PISSN: 10774114     EISSN: 15363678     Source Type: Journal    
DOI: 10.1097/MPH.0b013e3181f46bf4     Document Type: Article

References (8)

1. Dale DC, Link DC. The many causes of severe congenital neutropenia. N Engl J Med. 2009;360:3-5.
2. Boztug K, Appaswamy G, Ashikov A, et al. A syndrome with congenital neutropenia and mutations in G6PC3. N Engl JMed. 2009;360:32-43.
3. Kim SY, Jun HS, Mead PA, et al. Neutrophil stress and apoptosis underlie myeloid dysfunction in glycogen storage disease type Ib. Blood. 2008;111:5704-5711.
4. Bertrand Y, Maier-Redelsperger M, Micheau M, et al. French Severe Chronic Neutropenia Study Group: Analysis of risk factors for myelodysplasias, leukemias and death from infection among patients with congenital neutropenia. Experience of the French Severe Chronic Neutropenia Study Group. Haematologica. 2005;90:45-53. (Pubitemid 40193753)
5. Rosenberg PS, Alter BP, Bolyard AA, et al. Severe Chronic Neutropenia International Registry. The incidence of leukemia and mortality from sepsis in patients with severe congenital neutropenia receiving long-term G-CSF therapy. Blood. 2006; 107:4628-4635. (Pubitemid 43882607)
6. Rosenberg PS, Alter BP, Link DC, et al. Neutrophil elastase mutations and risk of leukaemia in severe congenital neutropenia. Br J Haematol. 2008;140:210-213. (Pubitemid 350265043)
7. Pinsk M, Burzynski J, Yhap M, et al. Acute myelogenous leukemia and glycogen storage disease 1b. J Pediatr Hematol Oncol. 2002;24:756-758. (Pubitemid 35448743)
8. Simmons PJ, Smithson WA, Gronert WA, et al. Acute myelogenous leukaemia and malignant hyperthermia in a patient with type 1b glycogen storage disease. J Pediatr. 1984; 105:428-431. (Pubitemid 14072128)