HAX1 mutation in an infant with severe congenital neutropenia

Turkish Journal of Pediatrics

Volumn 52, Issue 1, 2010, Pages 81-84

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

^a SHAHID BEHESHTI UNIVERSITY OF MEDICAL SCIENCES   (Iran)

^b TEHRAN UNIVERSITY OF MEDICAL SCIENCES   (Iran)

^c HANNOVER MEDICAL SCHOOL   (Germany)

Author keywords

Granulocyte colonystimulating factor; HAX1 mutation; Severe congenital neutropenia

Indexed keywords

ANTIBIOTIC AGENT; GENE PRODUCT; GRANULOCYTE COLONY STIMULATING FACTOR; HCLS1 ASSOCIATED PROTEIN X1; HEMOGLOBIN; IMMUNOGLOBULIN A; IMMUNOGLOBULIN G; IMMUNOGLOBULIN M; PROTEIN HAX1; UNCLASSIFIED DRUG;

ARTICLE; BLOOD CELL COUNT; BONE MARROW BIOPSY; BREATHING RATE; CASE REPORT; CELL CYCLE ARREST; CHRONIC DIARRHEA; DISEASE SEVERITY; DRUG RESPONSE; FEVER; GENE INSERTION; GENE MUTATION; HOMOZYGOSITY; HUMAN; IMMUNOGLOBULIN BLOOD LEVEL; INFANT; LEUKOCYTE DIFFERENTIAL COUNT; MALE; NEUTROPENIA; PEDIGREE; PREMATURE STOP CODON; PROMYELOCYTE; PULSE RATE; RECURRENT INFECTION; SEVERE CONGENITAL NEUTROPENIA; SINGLE NUCLEOTIDE POLYMORPHISM; SKIN ABSCESS; SKIN INFECTION; STOP CODON; THROMBOCYTE COUNT;

DIARRHEA; GRANULOCYTE COLONY-STIMULATING FACTOR; HUMANS; INFANT; MALE; NEUTROPENIA; PEDIGREE; PROTEINS; RECURRENCE; SKIN DISEASES, BACTERIAL;

EID: 77950411000     PISSN: 00414301     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (19)

1. Kostmann R. Infantile genetic agranulocytosis: a new recessive lethal disease in man. Acta Paediatr Scand 1956; 45: 1-78.
2. Wintergerst U, Rosenzweig SD, Abinun M, Malech HL, Holland SM, Rezaei N. Phagocytes defects. In: Rezaei N, Aghamohammadi A, Notarangelo LD (eds). Primary Immunodeficiency Diseases: Definition, Diagnosis and Management (1st ed). Heidelberg: Springer-Verlag Berlin; 2008: 131-166.
3. 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: 351-356.
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: 525-533.
5. Welte K, Zeidler C, Dale DC. Severe congenital neutropenia. Semin Hematol 2006; 43: 189-195.
6. Ward AC, Dale DC. Genetic and molecular diagnosis of severe congenital neutropenia. Curr Opin Hematol 2009; 16: 9-13.
7. Rezaei N, Chavoshzadeh Z, R Alaei O, Sandrock I, Klein C. Association of HAX1 deficiency with neurological disorder. Neuropediatrics 2007; 38: 261-263.
8. Dale DC, Person RE, Bolyard AA, et al. Mutations in the gene encoding neutrophil elastase in congenital and cyclic neutropenia. Blood 2000; 96: 2317-2322.
9. Salipante SJ, Benson KF, Luty J, et al. Double de novo mutations of ELA2 in cyclic and severe congenital neutropenia. Hum Mutat 2007; 28: 874-881.
10. Klein C, Grudzien M, Appaswamy G, et al. HAX1 deficiency causes autosomal recessive severe congenital neutropenia (Kostmann disease). Nat Genet 2007; 39: 86-92.
11. 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: 4954-4957.
12. Zeidler C, Germeshausen M, Klein C, Welte K. Clinical implications of ELA2-, HAX1-, and G-CSF-receptor (CSF3R) mutations in severe congenital neutropenia. Br J Haematol 2009; 144: 459-467.
13. Boztug K, Appaswamy G, Ashikov A, et al. A syndrome with congenital neutropenia and mutations in G6PC3. N Engl J Med 2009; 360: 32-43.
14. Devriendt K, Kim AS, Mathijs G, et al. Constitutively activating mutation in WASP causes X-linked severe congenital neutropenia. Nat Genet 2001; 27: 313-317.
15. Person RE, Li FQ, Duan Z, et al. Mutations in proto-oncogene GFI1 cause human neutropenia and target ELA2. Nat Genet 2003; 34: 308-312.
16. Rezaei N, Aghamohammadi A, Moin M, et al. Frequency and clinical manifestations of patients with primary immunodeficiency disorders in Iran: update from the Iranian Primary Immunodeficiency Registry. J Clin Immunol 2006; 26: 519-532.
17. 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: 145-151.
18. Fahimzad A, Chavoshzadeh Z, Abdollahpour H, Klein C, Rezaei N. 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: 469-472.
19. Mamishi S, Abdar Esfahani S, Parvaneh M, Diestelhorst J, Rezaei N. HAX1 deficiency in two siblings of a consanguineous family with severe congenital neutropenia. J Investig Allergol Clin Immunol 2009; 19: In press.