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European Journal of Pediatrics

Volumn 169, Issue 6, 2010, Pages 759-762

Kostmann disease with developmental delay in three patients

(6) 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

Developmental delay; HAX1; Infection; Kostmann disease; Severe congenital neutropenia

Indexed keywords

GRANULOCYTE COLONY STIMULATING FACTOR; GRANULOCYTE COLONY STIMULATING FACTOR RECEPTOR; HAX1 PROTEIN; IMMUNOGLOBULIN A; IMMUNOGLOBULIN G; IMMUNOGLOBULIN M; MITOCHONDRIAL PROTEIN; UNCLASSIFIED DRUG;

ARTICLE; BONE MARROW BIOPSY; CASE REPORT; CHILD; CLINICAL FEATURE; CONSANGUINEOUS MARRIAGE; DEVELOPMENTAL DISORDER; DISEASE ASSOCIATION; DRUG DOSE INCREASE; FEMALE; GENE MUTATION; HOMOZYGOSITY; HUMAN; HUMAN TISSUE; INFANT; KOSTMANN DISEASE; LEUKOCYTE COUNT; MALE; NEUTROPENIA; NEUTROPHIL COUNT; PRESCHOOL CHILD; PRIORITY JOURNAL; PROMYELOCYTE; SIBLING; TREATMENT OUTCOME;

ADAPTOR PROTEINS, SIGNAL TRANSDUCING; AGE OF ONSET; CHILD, PRESCHOOL; CONSANGUINITY; DEVELOPMENTAL DISABILITIES; FEMALE; GRANULOCYTE COLONY-STIMULATING FACTOR; HUMANS; IMMUNOLOGIC DEFICIENCY SYNDROMES; INFANT; MALE; NEUTROPENIA; SYNDROME; TURKEY;

EID: 77952093915 PISSN: 03406199 EISSN: None Source Type: Journal
DOI: 10.1007/s00431-010-1151-5 Document Type: Article

Times cited : (11)

References (8)

1
- 77952096365
- Eponym: Kostmann disease
- doi: 10.1007/s00431-010-1149-z
- Aytekin C, Germeshausen M, Tuygun N et al (2010) Eponym: Kostmann disease. Eur J Pediatr. doi: 10.1007/s00431-010-1149-z
- (2010) Eur J Pediatr.
- Aytekin, C.¹ Germeshausen, M.² Al Et, T.N.³

2
- 42049090976
- Congenital neutropenia syndromes
- DOI 10.1016/j.iac.2008.01.007, PII S0889856108000027
- 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)
- (2008) Immunology and Allergy Clinics of North America , vol.28 , Issue.2 , pp. 259-275
- Boztug, K.¹ Welte, K.² Zeidler, C.³ Klein, C.⁴

3
- 51649124219
- Central nervous system involvement in severe congenital neutropenia: Neurological and neuropsychological abnormalities associated with specific HAX1 mutations
- 10.1111/j.1365-2796.2008.01982.x 1:CAS:528:DC%2BD1cXht1Omt7%2FL 18513342
- 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
- (2008) J Intern Med , vol.264 , pp. 388-400
- Carlsson, G.¹ Van'T Hooft, I.² Melin, M.³

4
- 33845972945
- Incidence of CSF3R mutations in severe congenital neutropenia and relevance for leukemogenesis: Results of a long-term survey
- DOI 10.1182/blood-2006-02-004275
- 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)
- (2007) Blood , vol.109 , Issue.1 , pp. 93-99
- Germeshausen, M.¹ Ballmaier, M.² Welte, K.³

5
- 42049117271
- Novel HAX1 mutations in patients with severe congenital neutropenia reveals isoform-dependent genotype- phenotype associations
- 10.1182/blood-2007-11-120667 1:CAS:528:DC%2BD1cXmtlaiurc%3D 18337561
- 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
- (2008) Blood , vol.111 , pp. 4954-4957
- Germeshausen, M.¹ Grudzien, M.² Zeidler, C.³

6
- 33845904894
- HAX1 deficiency causes autosomal recessive severe congenital neutropenia (Kostmann disease)
- DOI 10.1038/ng1940, PII NG1940
- 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)
- (2007) Nature Genetics , vol.39 , Issue.1 , pp. 86-92
- Klein, C.¹ Grudzien, M.² Appaswamy, G.³ Germeshausen, M.⁴ Sandrock, I.⁵ Schaffer, A.A.⁶ Rathinam, C.⁷ Boztug, K.⁸ Schwinzer, B.⁹ Rezaei, N.¹⁰ Bohn, G.¹¹ Melin, M.¹² Carlsson, G.¹³ Fadeel, B.¹⁴ Dahl, N.¹⁵ Palmblad, J.¹⁶ Henter, J.-I.¹⁷ Zeidler, C.¹⁸ Grimbacher, B.¹⁹ Welte, K.²⁰ more..

7
- 62949222908
- Severe congenital neutropenia
- 10.1016/j.hoc.2009.01.013 19327585
- K Welte C Zeidler 2009 Severe congenital neutropenia Hematol Oncol Clin North Am 23 307 320 10.1016/j.hoc.2009.01.013 19327585
- (2009) Hematol Oncol Clin North Am , vol.23 , pp. 307-320
- Welte, K.¹ Zeidler, C.²

8
- 58549087140
- Clinical implications of ELA2-, HAX1-, and G-CSF-receptor (CSF3R) mutations in severe congenital neutropenia
- 10.1111/j.1365-2141.2008.07425.x 1:CAS:528:DC%2BD1MXjtlehtr4%3D 19120359
- 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
- (2009) Br J Haematol , vol.144 , pp. 459-467
- Zeidler, C.¹ Germeshausen, M.² Klein, C.³ Welte, K.⁴

* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.