ライフサイエンスコーパス: congenital neutropenia

1 not increase the mutation burden in HSPCs in congenital neutropenia.

2 leukemic progression in patients with severe congenital neutropenia.

3 cyte differentiation and the pathogenesis of congenital neutropenia.

4 e in nearly half of all patients with severe congenital neutropenia.

5 acute myeloid leukemia evolving from severe congenital neutropenia.

6 ute myeloid leukemia in patients with severe congenital neutropenia.

7 wth, and elastase mutations cause cyclic and congenital neutropenia.

8 numbers are cyclic hematopoiesis and severe congenital neutropenia.

9 have been detected in many sporadic cases of congenital neutropenia.

10 ropenia and most of the patients with severe congenital neutropenia.

11 d progenitor cells in both cyclic and severe congenital neutropenia.

12 cute myeloid leukemia associated with severe congenital neutropenia.

13 -CSF may also be operative in the setting of congenital neutropenia.

14 ominantly affected by the mutations found in congenital neutropenia.

15 des novel insights on leukemia developing in congenital neutropenia.

16 enile periodontitis, cyclic neutropenia, and congenital neutropenia.

17 been reported in a minority of patients with congenital neutropenia and aplastic anemia (AA).

18 d to the development of monosomy 7 in severe congenital neutropenia and aplastic anemia.

19 ctions was confirmed in patients with severe congenital neutropenia and autoimmune neutropenia.

20 Congenital neutropenia and cyclic neutropenia are disord

21 yndrome should be suspected in patients with congenital neutropenia and lymphopenia despite the absen

22 sent in approximately 50% of cases of severe congenital neutropenia and nearly all cases of cyclic ne

23 neutrophil elastase, cause cyclic and severe congenital neutropenia, and recent evidence indicates th

24 Severe congenital neutropenia as well as primary myelofibrosis

25 re probably the most common cause for severe congenital neutropenia as well as the cause for sporadic

26 l of disease pathogenesis in cases of severe congenital neutropenia associated with ELA2 mutations an

27 Among other genes, severe congenital neutropenia can also result from mutations af

28 Certain patients with severe congenital neutropenia carry mutations in the GFI1 gene

29 Severe congenital neutropenia (CN) is a preleukemic bone marrow

30 ulated in granulocytic progenitors of severe congenital neutropenia (CN) patients.

31 oid cells and plasma of patients with severe congenital neutropenia (CN).

32 The mutations causing severe congenital neutropenia consist of amino acid missense su

33 Severe congenital neutropenia consists of static neutropenia an

34 RECENT FINDINGS: The category of severe congenital neutropenia continues to expand.

35 Patients with congenital neutropenia, cyclic neutropenia, or Shwachman

36 acute myeloid leukemia evolving from severe congenital neutropenia, disrupted Gfi-1 up-regulation by

37 mbocytopenia; intermittent thrombocytopenia; congenital neutropenia), for making diagnostic and progn

38 Twenty-two of 25 patients with congenital neutropenia had 18 different heterozygous mut

39 Some responders with congenital neutropenia have developed myelodysplastic sy

40 For 5 patients with congenital neutropenia having mutations predicted to alt

41 ociated with ELA2 mutations and place severe congenital neutropenia in a growing list of human diseas

42 scillate with a 21-day frequency, and severe congenital neutropenia, in which static neutropenia may

43 Congenital neutropenia is a group of genetic disorders t

44 Severe congenital neutropenia is a heritable human disorder cha

45 The authors hypothesized that congenital neutropenia is also due to mutations of neutr

46 Severe congenital neutropenia is an inborn disorder of granulop

47 utrophil defects of congenital origin (e.g., congenital neutropenia, leukocyte adhesion deficiency, a

48 These 3 patients shared congenital neutropenia linked with various other SDS phe

49 Improved survival of congenital neutropenia patients receiving G-CSF therapy

50 ine a syndrome with intellectual disability, congenital neutropenia, progressive brain atrophy, movem

51 cyclic neutropenia and most cases of severe congenital neutropenia result from heterozygous germline

52 ant, N382S, which was associated with severe congenital neutropenia, resulted in premature apoptosis

53 Besides congenital neutropenia, retinopathy and intellectual def

54 be involved in apoptotic processes in severe congenital neutropenia (SCN) 3 (Kostmann disease [caused

55 plex (chronic granulomatous disease), severe congenital neutropenia (SCN) and leukocyte adhesion defi

56 In patients with severe congenital neutropenia (SCN) and mice with growth factor

57 Severe congenital neutropenia (SCN) and Shwachman-Diamond syndr

58 eptor (G-CSFR) in the pathogenesis of severe congenital neutropenia (SCN) and the subsequent developm

59 Patients with severe congenital neutropenia (SCN) are at increased risk for t

60 SF receptor (G-CSFR) in patients with severe congenital neutropenia (SCN) are postulated to contribut

61 A subgroup of patients with severe congenital neutropenia (SCN) has been shown to harbor mu

62 Severe congenital neutropenia (SCN) is a BM failure syndrome wi

63 Severe congenital neutropenia (SCN) is a rare disease diagnosed

64 Severe congenital neutropenia (SCN) is a syndrome characterized

65 Severe congenital neutropenia (SCN) is an inborn disorder of gr

66 Severe congenital neutropenia (SCN) is an inborn disorder of gr

67 Severe congenital neutropenia (SCN) is characterized by a defic

68 Severe congenital neutropenia (SCN) is characterized by low num

69 Severe congenital neutropenia (SCN) is characterized by neutrop

70 Severe congenital neutropenia (SCN) is often associated with in

71 The analysis of individuals with severe congenital neutropenia (SCN) may shed light on the delic

72 Severe congenital neutropenia (SCN) was first described just ov

73 Severe congenital neutropenia (SCN) was originally described as

74 R) occur in a subset of patients with severe congenital neutropenia (SCN) who develop acute myelogeno

75 CT) is the only curative treatment of severe congenital neutropenia (SCN), but data on outcome are sc

76 reditary human leukemia syndromes are severe congenital neutropenia (SCN), caused by mutations in the

77 In patients with severe congenital neutropenia (SCN), sepsis mortality is reduce

78 locates to the nucleus and results in severe congenital neutropenia (SCN).

79 E, cause cyclic neutropenia (CyN) and severe congenital neutropenia (SCN).

80 nly curative option for patients with severe congenital neutropenia (SCN).

81 tions are found in some patients with severe congenital neutropenia (SCN).

82 fied in the majority of patients with severe congenital neutropenia (SCN).

83 y neutropenia, cyclic neutropenia and severe congenital neutropenia (SCN).

84 NE) are present in most patients with severe congenital neutropenia (SCN).

85 increased frequency in patients with severe congenital neutropenia (SCN).

86 than 15 genes are now known to cause severe congenital neutropenia (SCN); however, the pathologic me

87 st cases of the pre-leukemic disorder severe congenital neutropenia (SCN; ref. 3) in humans.

88 l elastase), the most common cause of severe congenital neutropenia (SCN; ref. 3).

89 a or G6PC3) deficiency, also known as severe congenital neutropenia syndrome 4, is characterized not

90 Kostmann disease is an inherited severe congenital neutropenia syndrome associated with loss-of-

91 esults show that immune deficiencies in this congenital neutropenia syndrome extend beyond neutrophil

92 e-6-phosphatase-beta) deficiency underlies a congenital neutropenia syndrome in which neutrophils exh

93 CN) and Shwachman-Diamond syndrome (SDS) are congenital neutropenia syndromes with a high rate of leu

94 CXCR2 frameshift mutation in a pedigree with congenital neutropenia that abolished ligand-induced CXC

95 g on a panel of 46 genes on 80 patients with congenital neutropenia to assess for clonal hematopoiesi

96 ietic colonies derived from 13 patients with congenital neutropenia to measure total mutation burden

97 openic patients, including 352 patients with congenital neutropenia, treated with G-CSF from 1987 to

98 or the different clinical phenotypes (severe congenital neutropenia versus cyclic neutropenia) and th

99 dies of the molecular pathogenesis of severe congenital neutropenia, with an emphasis on those cases