ライフサイエンスコーパス: congenital neutropenia

1 CSF (G-CSF, the standard of care for severe congenital neutropenia).

2 enile periodontitis, cyclic neutropenia, and congenital neutropenia.

3 onsidered in the evaluation of patients with congenital neutropenia.

4 h retardation, facial dysmorphism and severe congenital neutropenia.

5 leukemic progression in patients with severe congenital neutropenia.

6 cyte differentiation and the pathogenesis of congenital neutropenia.

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

8 acute myeloid leukemia evolving from severe congenital neutropenia.

9 ute myeloid leukemia in patients with severe congenital neutropenia.

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

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

12 numbers are cyclic hematopoiesis and severe congenital neutropenia.

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

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

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

16 cute myeloid leukemia associated with severe congenital neutropenia.

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

18 ominantly affected by the mutations found in congenital neutropenia.

19 des novel insights on leukemia developing in congenital neutropenia.

20 LANE mutation (Elastase deficiency or Severe Congenital Neutropenia 1), and C5 deficiency Forty child

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

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

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

24 Congenital neutropenia and cyclic neutropenia are disord

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

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

27 nts are a new and relatively common cause of congenital neutropenia and should be considered in the e

28 aimed to characterize a patient with severe congenital neutropenia and syndromic features without a

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

30 Severe congenital neutropenia as well as primary myelofibrosis

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

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

33 PS45 deficiency in human patients results in congenital neutropenia, bone marrow fibrosis, and extram

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

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

36 CLPB (caseinolytic peptidase B) in 5 severe congenital neutropenia cases, with 5 more cases identifi

37 ted bone marrow failure syndrome with severe congenital neutropenia (CN) caused by autosomal recessiv

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

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

40 54 were recently identified in patients with congenital neutropenia (CN) who display symptoms that ov

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

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

43 Severe congenital neutropenia consists of static neutropenia an

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

45 Patients with congenital neutropenia, cyclic neutropenia, or Shwachman

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

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

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

49 Some responders with congenital neutropenia have developed myelodysplastic sy

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

51 Exome sequencing of 104 persons with congenital neutropenia identified heterozygous missense

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

53 olecular and metabolic mechanisms underlying congenital neutropenia in patients with HAX1 deficiency

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

55 Congenital neutropenia is a group of genetic disorders t

56 Severe congenital neutropenia is a heritable human disorder cha

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

58 Severe congenital neutropenia is an inborn disorder of granulop

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

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

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

62 Severe congenital neutropenia presents with recurrent infection

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

64 ni anemia, GATA2-deficiency syndrome, severe congenital neutropenia, RASopathy, and Diamond-Blackfan

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

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

67 Besides congenital neutropenia, retinopathy and intellectual def

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

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

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

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

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

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

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

75 Severe congenital neutropenia (SCN) evolves to secondary myelod

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

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

78 Severe congenital neutropenia (SCN) is a life-threatening disor

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

80 Severe congenital neutropenia (SCN) is a syndrome characterized

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

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

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

84 Severe congenital neutropenia (SCN) is characterized by a near

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

86 Severe congenital neutropenia (SCN) is characterized by neutrop

87 Severe congenital neutropenia (SCN) is frequently associated wi

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

89 The molecular cause of severe congenital neutropenia (SCN) is unknown in 30% to 50% of

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

91 ere we generate mouse models of human severe congenital neutropenia (SCN) using patient-derived mutat

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

93 Severe congenital neutropenia (SCN) was originally described as

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

114 ion, nutritional deficiency, malignancy, and congenital neutropenia syndromes.

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

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

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

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

119 arly in mutant SRP54(G226E) linked to severe congenital neutropenia, uncouples the SRP/SR GTPase cycl

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

121 4 mutation causes autosomal-recessive severe congenital neutropenia with syndromic features.

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