Eponym: Kostmann disease

European Journal of Pediatrics

Volumn 169, Issue 6, 2010, Pages 657-660

  Aytekin, Caner ^a   Germeshausen, Manuela ^b   Tuygun, Nilden ^a   Tanir, Gonul ^a   Dogu, Figen ^c   Ikinciogullari, Aydan ^c  

^a DR SAMI ULUS CHILDREN S HOSPITAL   (Turkey)

^b HANNOVER MEDICAL SCHOOL   (Germany)

^c ANKARA UNIVERSITY   (Turkey)

Author keywords

HAX1; Kostmann disease; Severe congenital neutropenia

Indexed keywords

CCAAT ENHANCER BINDING PROTEIN ALPHA; ELASTASE; GRANULOCYTE COLONY STIMULATING FACTOR RECEPTOR; GROWTH FACTOR; GROWTH FACTOR INDEPENDENT 1; HAX1 PROTEIN; LYMPHOID ENHANCER FACTOR 1; MITOCHONDRIAL PROTEIN; NICOTINAMIDE ADENINE DINUCLEOTIDE; NICOTINAMIDE PHOSPHORIBOSYLTRANSFERASE; RECOMBINANT GRANULOCYTE COLONY STIMULATING FACTOR; SIRTUIN; UNCLASSIFIED DRUG; WISKOTT ALDRICH SYNDROME PROTEIN;

AGRANULOCYTOSIS; ALLOGENEIC HEMATOPOIETIC STEM CELL TRANSPLANTATION; CLINICAL FEATURE; DISEASE ASSOCIATION; GENE IDENTIFICATION; GENE MUTATION; GENOTYPE PHENOTYPE CORRELATION; HOMOZYGOSITY; HUMAN; INHERITANCE; KOSTMANN DISEASE; LEUKEMIA; LEUKOCYTE DIFFERENTIAL COUNT; NEUTROPENIA; NEUTROPHIL COUNT; PRIORITY JOURNAL; PROGNOSIS; PUBLICATION; QUALITY OF LIFE; REVIEW;

ADAPTOR PROTEINS, SIGNAL TRANSDUCING; EPONYMS; HISTORY, 20TH CENTURY; HUMANS; MUTATION; NEUTROPENIA; PORTRAITS AS TOPIC; SYNDROME;

EID: 77952096365     PISSN: 03406199     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00431-010-1149-z     Document Type: Review

References (28)

1. PJ Ancliff MP Blundell GO Cory, et al. 2006 Two novel activating mutations in the Wiskott-Aldrich syndrome protein result in congenital neutropenia Blood 108 2182 2189 10.1182/blood-2006-01-010249 1:CAS:528:DC%2BD28XhtVCgtbfK 16804117 (Pubitemid 44497498)
2. MA Bonilla AP Gillio M Ruggeiro, et al. 1989 Effects of recombinant human granulocyte colony-stimulating factor on neutropenia in patients with congenital agranulocytosis N Engl J Med 320 1574 1580 1:STN:280: DyaL1M3mtF2lsA%3D%3D 2471075
3. LA Boxer PE Newburger 2007 A molecular classification of congenital neutropenia syndromes Pediatr Blood Cancer 49 609 614 10.1002/pbc.21282 17584878 (Pubitemid 350194422)
4. K Boztug G Appaswamy A Ashikov, et al. 2009 A syndrome with congenital neutropenia and mutations in G6PC3 N Engl J Med 360 32 43 10.1056/NEJMoa0805051 1:CAS:528:DC%2BD1MXhvFOgsw%3D%3D 19118303
5. K Boztug K Welte C Zeidler C Klein 2008 Congenital neutropenia syndromes Immunol Allergy Clin North Am 28 259 275 10.1016/j.iac.2008.01.007 18424332 (Pubitemid 351522409)
6. G Carlsson M Andersson K Pütsep, et al. 2006 Kostmann syndrome or infantile genetic agranulocytosis, part one: celebrating 50 years of clinical and basic research on severe congenital neutropenia Acta Paediatr 95 1526 1532 10.1080/08035250601087607 17129957 (Pubitemid 44863801)
7. G Carlsson A Fasth 2001 Infantile genetic agranulocytosis, morbus Kostmann: presentation of six cases from the original "Kostmann family" and a review Acta Paediatr 90 757 764 10.1080/080352501750315663 1:STN:280:DC%2BD3Mvns1Orsg%3D%3D 11519978
8. G Carlsson I van't Hooft M Melin, et al. 2008 Central nervous system involvement in severe congenital neutropenia: neurological and neuropsychological abnormalities associated with specific HAX1 mutations J Intern Med 264 388 400 10.1111/j.1365-2796.2008.01982.x 1:CAS:528: DC%2BD1cXht1Omt7%2FL 18513342
9. G Carlsson YB Wahlin A Johansson, et al. 2006 Periodontal disease in patients from the original Kostmann family with severe congenital neutropenia J Periodontol 77 744 751 10.1902/jop.2006.050191 16584360 (Pubitemid 44725064)
10. DC Dale RE Person AA Bolyard 2000 Mutations in the gene encoding neutrophil elastase in congenital and cyclic neutropenia Blood 96 2317 2322 1:CAS:528:DC%2BD3cXntVartb0%3D 11001877
11. M Donini S Fontana G Savoldi, et al. 2007 G-CSF treatment of severe congenital neutropenia reverses neutropenia but does not correct the underlying functional deficiency of the neutrophil in defending against microorganisms Blood 109 4716 4723 10.1182/blood-2006-09-045427 1:CAS:528:DC%2BD2sXmt1Ogtb4%3D 17311988 (Pubitemid 46827763)
12. C Ferry M Ouachée T Leblanc, et al. 2005 Hematopoietic stem cell transplantation in severe congenital neutropenia: experience of the French SCN register Bone Marrow Transplant 35 45 50 10.1038/sj.bmt.1704718 1:STN:280:DC%2BD2cnisFCrtA%3D%3D 15489867 (Pubitemid 40090055)
13. M Germeshausen M Ballmaier K Welte 2007 Incidence of CSF3R mutations in severe congenital neutropenia and relevance for leukemogenesis: results of a long-term survey Blood 109 93 99 10.1182/blood-2006-02-004275 1:CAS:528:DC%2BD2sXivVyrtLg%3D 16985178 (Pubitemid 46053048)
14. M Germeshausen M Grudzien C Zeidler, et al. 2008 Novel HAX1 mutations in patients with severe congenital neutropenia reveals isoform-dependent genotype-phenotype associations Blood 111 4954 4957 10.1182/blood-2007-11-120667 1:CAS:528:DC%2BD1cXmtlaiurc%3D 18337561
15. M Germeshausen J Skokowa M Ballmaier, et al. 2008 G-CSF receptor mutations in patients with congenital neutropenia Curr Opin Hematol 15 332 337 10.1097/MOH.0b013e328303b9f6 1:CAS:528:DC%2BD1cXnvFehuro%3D 18536571
16. C Klein M Grudzien G Appaswamy, et al. 2007 HAX1 deficiency causes autosomal recessive severe congenital neutropenia (Kostmann disease) Nat Genet 39 86 92 10.1038/ng1940 1:CAS:528:DC%2BD28XhtlGktLjJ 17187068 (Pubitemid 46026506)
17. C Klein K Welte 2010 Genetic insights into congenital neutropenia Clin Rev Allergy Immunol 38 68 74 10.1007/s12016-009-8130-5 1:CAS:528: DC%2BC3cXps1Wlsg%3D%3D 19440858
18. R Kostmann 1956 Infantile genetic agranulocytosis (agranulocytosis infantilis herediteria). A new recessive lethal disease in man Acta Paediatrica (suppl.) 105 1 78
19. J Skokowa JP Fobiwe L Dan, et al. 2009 Neutrophil elastase is severely downregulated in severe congenital neutropenia (CN) independent of ELA2 or HAX1 mutations but dependent on LEF-1 Blood 114 3044 3051 10.1182/blood-2008-11- 188755 1:CAS:528:DC%2BD1MXht12qurzE 19620402
20. J Skokowa M Germeshausen C Zeidler K Welte 2007 Severe congenital neutropenia: inheritance and pathophysiology Curr Opin Hematol 14 22 28 10.1097/00062752-200701000-00006 17133096
21. J Skokowa K Welte 2009 Dysregulation of myeloid-specific transcription factors in congenital neutropenia Ann N Y Acad Sci 1176 94 100 10.1111/j.1749-6632.2009.04963.x 1:CAS:528:DC%2BD1MXhtlKqt7bJ 19796237
22. OP Smith J Cox 1999 Historical review. Inherited bone marrow failure: the men behind the empty space Br J Haematol 107 242 246 10.1046/j.1365-2141.1999. 01720.x 1:STN:280:DC%2BD3c%2FltFWgtQ%3D%3D 10583208
23. K Welte C Zeidler 2009 Severe congenital neutropenia Hematol Oncol Clin North Am 23 307 320 10.1016/j.hoc.2009.01.013 19327585
24. K Welte C Zeidler DC Dale 2006 Severe congenital neutropenia Semin Hematol 43 189 195 10.1053/j.seminhematol.2006.04.004 1:CAS:528: DC%2BD28XotFaktbg%3D 16822461 (Pubitemid 43963504)
25. E Yakisan E Schirg C Zeidler, et al. 1997 High incidence of significant bone loss in patients with severe congenital neutropenia (Kostmann's syndrome) J Pediatr 131 592 597 10.1016/S0022-3476(97)70068-4 1:STN:280: DyaK1c%2FkslyqtA%3D%3D 9386665 (Pubitemid 28006935)
26. A Zarebski CS Velu AM Baktula, et al. 2008 Mutations in growth factor independent-1 associated with human neutropenia block murine granulopoiesis through colony stimulating factor-1 Immunity 28 370 380 10.1016/j.immuni.2007. 12.020 1:CAS:528:DC%2BD1cXjvFeksLk%3D 18328744
27. C Zeidler M Germeshausen C Klein K Welte 2009 Clinical implications of ELA2-, HAX1-, and G-CSF-receptor (CSF3R) mutations in severe congenital neutropenia Br J Haematol 144 459 467 10.1111/j.1365-2141.2008.07425.x 1:CAS:528:DC%2BD1MXjtlehtr4%3D 19120359
28. C Zeidler K Welte Y Barak, et al. 2000 Stem cell transplantation in patients with severe CN without evidence of leukemic transformation Blood 95 1195 1198 1:CAS:528:DC%2BD3cXhtFKisbk%3D 10666190