Two cases of syndromic neutropenia with a report of novel mutation in G6PC3

Iranian Journal of Allergy, Asthma and Immunology

Volumn 10, Issue 3, 2011, Pages 227-230

  Alizadeh, Zahra ^a   Fazlollahi, Mohammad Reza ^a   Eshghi, Payman ^b   Hamidieh, Amir Ali ^c   Ghadami, Mohsen ^a   Pourpak, Zahra ^a  

^a TEHRAN UNIVERSITY OF MEDICAL SCIENCES   (Iran)

^b SHAHID BEHESHTI UNIVERSITY OF MEDICAL SCIENCES   (Iran)

^c TEHRAN UNIVERSITY OF MEDICAL SCIENCES   (Iran)

Author keywords

Cardiorascular urogenital malformations; G6PC3; Severe congenital neutropenia

Indexed keywords

GRANULOCYTE COLONY STIMULATING FACTOR;

ARTICLE; CASE REPORT; CELL MATURATION; CHILD; CODON; CONGENITAL HEART MALFORMATION; DNA SEQUENCE; EXON; FEVER; FOLLOW UP; G6PC3 GENE; GENE; GENE MUTATION; GENETIC VARIABILITY; HUMAN; INFANT; IRAN; LUNG INFECTION; MALE; NEUTROPHIL COUNT; PERSISTENT INFECTION; PHENOTYPE; PHYSICAL EXAMINATION; POLYMERASE CHAIN REACTION; PRESCHOOL CHILD; PROMYELOCYTE; RECURRENT DISEASE; RECURRENT INFECTION; SEQUENCE ANALYSIS; SEVERE CONGENITAL NEUTROPENIA; STEM CELL TRANSPLANTATION; UROGENITAL TRACT MALFORMATION;

ABNORMALITIES, MULTIPLE; AGE OF ONSET; BASE SEQUENCE; CHILD, PRESCHOOL; DNA MUTATIONAL ANALYSIS; GLUCOSE-6-PHOSPHATASE; HUMANS; INFANT; INFANT, NEWBORN; MALE; MOLECULAR SEQUENCE DATA; NEUTROPENIA; POINT MUTATION;

EID: 80052975093     PISSN: 17351502     EISSN: 17355249     Source Type: Journal    
DOI: None     Document Type: Article

References (10)

1. Boxer L.A. and Newburger PE. A molecular classification of congenital neutropenia syndromes. Pediatr Blood Cancer. 2007. 49(5):609-14. (Pubitemid 350194422)
2. Klein C. Molecular basis of congenital neutropenia. Haematologica 2009. 94(10):1333-6.
3. Klein C, Welte K. Genetic insights into congenital neutropenia. Clinical Reviews in Allergy and Immunology 2010. 38(1):68-74.
4. Boztug K, Appaswamy G, Ashikov A, Schaffer AA, Salzer U, Diestelhorst J, et al. A syndrome with congenital neutropenia and mutations in G6PC3. N Engl J Med 2009; 360(1):32-43.
5. Boztug K, Klein C. Novel genetic etiologies of severe congenital neutropenia. Curr Opin Immunol 2009; 21(5):472-80.
6. McDermott D, De Ravin SS, Jun HS, Liu Q, Long Priel DA, Noel P, et al. Severe congenital neutropenia resulting from G6PC3 deficiency with increased neutrophil CXCR4 expression and myelokathexis. Blood 2010; 116(115):2793-803.
7. Eghbali A, Eshghi P, Malek F, Rezaei N. Cardiac and Renal Malformation in a Patient with Sepsis and Severe Congenital Neutropenia. Iran J Pediatr 2010; 20(2):225-8.
8. Arostegui JI, De Toledo JS, Pascal M, García C, Yagüe J, Díaz de Heredia C. A novel G6PC3 homozygous 1-bp deletion as a cause of severe congenital neutropenia. Blood 2009; 114(8):1718-9.
9. Xia J, Boylard AA, Rodger E, Stein S, Aprikyan AA, Dale DC, et al. Prevalence of mutations in ELANE, GFI1, HAX1, SBDS, WAS and G6PC3 in patients with severe congenital neutropenia. Br J Haematol 2009; 147(4):535-42.
10. Gatti S, Boztug K, Pedini A, Pasqualini C, Albano V, Kline C, et al. A case of Syndromic Neutropenia and mutation in G6PC3. J Pediatr Hematol Oncol 2011; 33(2):138-40.