Cardiac and renal malformations in a patient with sepsis and severe congenital neutropenia

Iranian Journal of Pediatrics

Volumn 20, Issue 2, 2010, Pages 225-228

  Eghbali, Aziz ^a   Eshghi, Peyman ^a   Malek, Fatemeh ^a   Rezaei, Nima ^b,c  

^a SHAHID BEHESHTI UNIVERSITY OF MEDICAL SCIENCES   (Iran)

^b TEHRAN UNIVERSITY OF MEDICAL SCIENCES   (Iran)

^c TEHRAN UNIVERSITY OF MEDICAL SCIENCES   (Iran)

Author keywords

Cardiac malformation; G6PC3; Mutation; Renal malformation; Severe congenital neutropenia

Indexed keywords

ANTIBIOTIC AGENT; GLUCOSE 6 PHOSPHATASE; GLUCOSE 6 PHOSPHATASE CATALYTIC SUBUNIT 3; GRANULOCYTE COLONY STIMULATING FACTOR; UNCLASSIFIED DRUG;

ARTICLE; BIRTH; BONE MARROW BIOPSY; BRONCHIOLITIS; CASE REPORT; CELL CYCLE ARREST; CLINICAL FEATURE; CONGENITAL HEART MALFORMATION; DIAGNOSTIC ACCURACY; DIARRHEA; DISEASE SEVERITY; FAMILY HISTORY; GENE MUTATION; HEART ATRIUM SEPTUM DEFECT; HUMAN; HUMAN TISSUE; HYDRONEPHROSIS; KIDNEY MALFORMATION; MALE; NEUTROPENIA; NEUTROPHIL COUNT; NEWBORN; NEWBORN SEPSIS; PATENT DUCTUS ARTERIOSUS; PEDIGREE ANALYSIS; PROMYELOCYTE; QUALITY OF LIFE; SEVERE CONGENITAL NEUTROPENIA; URINARY TRACT INFECTION;

EID: 77953825604     PISSN: 10184406     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (13)

1. Schaffer AA, Klein C. Genetic heterogeneity in severe congenital neutropenia: how many aberrant pathways can kill a neutrophil? Curr Opin Allergy Clin Immunol. 2007;7(6):481-94.
2. Wintergerst U, Rosenzweig SD, Abinun M, et al.. Phagocytes Defects. Primary Immunodeficiency Diseases: Definition, Diagnosis, and Management. 1st ed. Heidelberg: Springer Verlag Berlin; 2008. Pp:131-66.
3. Boztug K, Welte K, Zeidler C, et al. Congenital neutropenia syndromes. Immunol Allergy Clin North Am. 2008; 28(2):259-75.
4. Rezaei N, Moin M, Pourpak Z, et al. The clinical, immunohematological, and molecular study of Iranian patients with severe congenital neutropenia. J Clin Immunol. 2007;27(5):525-33.
5. Rezaei N, Farhoudi A, Ramyar A, et al. Congenital neutropenia and primary immunodeficiency disorders: a survey of 26 Iranian patients. J Pediatr Hematol Oncol. 2005;27(7):351-6.
6. Rezaei N, Moazzami K, Aghamohammadi A, Klein C. Neutropenia and primary immunodeficiency diseases. Int Rev Immunol. 2009; 28(5): 335-66.
7. Fahimzad A, Chavoshzadeh Z, Abdollahpour H, et al. Necrosis of nasal cartilage due to mucormycosis in a patient with severe congenital neutropenia due to HAX1 deficiency. J Investig Allergol Clin Immunol. 2008;18(6):469-72.
8. Rezaei N, Chavoshzadeh Z, R Alaei O, et al. Association of HAX1 deficiency with neurological disorder. Neuropediatrics. 2007;38(5):261-3.
9. Klein C, Grudzien M, Appaswamy G, et al. HAX1 deficiency causes autosomal recessive severe congenital neutropenia (Kostmann disease). Nat Genet. 2007; 39(1):86-92.
10. Germeshausen M, Grudzien M, Zeidler C, et al. Novel HAX1 mutations in patients with severe congenital neutropenia reveal isoform-dependent genotype-phenotype associations. Blood. 2008;111(10):4954-7.
11. Boztug K, Appaswamy G, Ashikov A, et al. A syndrome with congenital neutropenia and mutations in G6PC3. N Engl J Med 2009;360(1):32-43.
12. Cohen P, Frame S. The renaissance of GSK3. Nat Rev Mol Cell Biol. 2001;2(10): 769-76.
13. Rezaei N, Pourpak Z, Aghamohammadi A, et al. Consanguinity in primary immunodeficiency disorders; the report from Iranian Primary Immunodeficiency Registry. Am J Reprod Immunol. 2006; 56(2):145-51.