Infantile genetic agranulocytosis, morbus Kostmann: presentation of six cases from the original "Kostmann family" and a review.
about
Human adenylate kinase 2 deficiency causes a profound hematopoietic defect associated with sensorineural deafnessHAX1 deficiency causes autosomal recessive severe congenital neutropenia (Kostmann disease)Congenital neutropenia: diagnosis, molecular bases and patient management.TCIRG1-associated congenital neutropenia.In vitro studies on the antimicrobial peptide human beta-defensin 9 (HBD9): signalling pathways and pathogen-related response (an American Ophthalmological Society thesis).Systemic disease and periodontitis: manifestations of neutrophil dysfunction.Leukemia in severe congenital neutropenia: defective proteolysis suggests new pathways to malignancy and opportunities for therapy.Mutations in the ELANE gene are associated with development of periodontitis in patients with severe congenital neutropeniaNeutrophil elastase in cyclic and severe congenital neutropenia.Endogenous pulmonary antibiotics.ELANE mutations in cyclic and severe congenital neutropenia: genetics and pathophysiologyHuman antimicrobial proteins effectors of innate immunity.HAX1 deletion impairs BCR internalization and leads to delayed BCR-mediated apoptosis.Assignment of the gene locus for severe congenital neutropenia to chromosome 1q22 in the original Kostmann family from Northern Sweden.Chronic hyperglycemia predisposes to exaggerated inflammatory response and leukocyte dysfunction in Akita mice.Neurological findings and genetic alterations in patients with Kostmann syndrome and HAX1 mutations.Aggressive forms of periodontitis secondary to systemic disorders.Risk factors that may modify the innate and adaptive immune responses in periodontal diseases.Kostmann's Disease and HCLS1-Associated Protein X-1 (HAX1).Essential role for cyclin D3 in granulocyte colony-stimulating factor-driven expansion of neutrophil granulocytesOvarian failure in HAX1-deficient patients: is there a gender-specific difference in pubertal development in severe congenital neutropenia or Kostmann disease?Periodontal disease in patients from the original Kostmann family with severe congenital neutropenia.Vitamin D3 induces pro-LL-37 expression in myeloid precursors from patients with severe congenital neutropenia.Congenital and acquired neutropenias consensus guidelines on therapy and follow-up in childhood from the Neutropenia Committee of the Marrow Failure Syndrome Group of the AIEOP (Associazione Italiana Emato-Oncologia Pediatrica).Periodontal status in two siblings with severe congenital neutropenia: diagnosis and mutational analysis of the cases.Efficacy and safety of two different rG-CSF preparations in the treatment of patients with severe congenital neutropenia.Hematopoietic stem cell transplantation in severe congenital neutropenia: experience of the French SCN registerHAX1 deletion impairs BCR internalization and leads to delayed BCR-mediated apoptosisIncidence of severe congenital neutropenia in Sweden and risk of evolution to myelodysplastic syndrome/leukaemia
P2860
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P2860
Infantile genetic agranulocytosis, morbus Kostmann: presentation of six cases from the original "Kostmann family" and a review.
description
2001 nî lūn-bûn
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2001 թուականի Յուլիսին հրատարակուած գիտական յօդուած
@hyw
2001 թվականի հուլիսին հրատարակված գիտական հոդված
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2001年の論文
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2001年論文
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2001年論文
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2001年論文
@zh-hk
2001年論文
@zh-mo
2001年論文
@zh-tw
2001年论文
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name
Infantile genetic agranulocyto ...... Kostmann family" and a review.
@ast
Infantile genetic agranulocyto ...... Kostmann family" and a review.
@en
Infantile genetic agranulocyto ...... Kostmann family" and a review.
@nl
type
label
Infantile genetic agranulocyto ...... Kostmann family" and a review.
@ast
Infantile genetic agranulocyto ...... Kostmann family" and a review.
@en
Infantile genetic agranulocyto ...... Kostmann family" and a review.
@nl
prefLabel
Infantile genetic agranulocyto ...... Kostmann family" and a review.
@ast
Infantile genetic agranulocyto ...... Kostmann family" and a review.
@en
Infantile genetic agranulocyto ...... Kostmann family" and a review.
@nl
P1433
P1476
Infantile genetic agranulocyto ...... Kostmann family" and a review.
@en
P2093
P304
P356
10.1080/080352501750315663
P407
P577
2001-07-01T00:00:00Z