ライフサイエンスコーパス: hyper-IgE syndrome

1 inactivating STAT3 mutations that result in hyper IgE syndrome.

2 Mutations in STAT3 cause autosomal dominant hyper-IgE syndrome.

3 inct clinical features of autosomal dominant hyper-IgE syndrome.

4 using localized candidiasis in patients with hyper-IgE syndrome.

5 AT3 in 50 familial and sporadic cases of the hyper-IgE syndrome.

6 h autoimmune disorders, or patients with the hyper-IgE syndrome.

7 ologic, dental, and skeletal features of the hyper-IgE syndrome.

8 s leading to symptoms of autosomal-recessive hyper-IgE syndrome.

9 ficiencies of the IL-6 receptor suffer from "hyper IgE syndrome."

10 the 27 relatives at risk for inheriting the hyper-IgE syndrome, 10 were fully affected, 11 were unaf

11 ie the only known autosomal dominant form of hyper IgE syndrome (AD HIES).

12 Patients with autosomal-dominant hyper-IgE syndrome (AD-HIES) carry dominant-negative STA

13 Most patients with autosomal dominant hyper-IgE syndrome (AD-HIES) carry rare heterozygous STA

14 distinct human diseases: autosomal-dominant hyper-IgE syndrome (AD-HIES) caused by STAT3 loss-of-fun

15 Nearly every patient with autosomal-dominant hyper-IgE syndrome (AD-HIES) due to signal transducer an

16 Autosomal dominant hyper-IgE syndrome (AD-HIES) is caused by dominant-negat

17 Autosomal dominant hyper-IgE syndrome (AD-HIES) is caused by mutations in s

18 Autosomal dominant hyper-IgE syndrome (AD-HIES) is typically caused by domi

19 cells from patients with autosomal dominant hyper-IgE syndrome (AD-HIES) resist such EBV oncogene-dr

20 syndrome is a disease of autosomal dominant hyper-IgE syndrome (AD-HIES).

21 Autosomal-dominant hyper-IgE syndrome (AD-HIES, also known as Job's syndrom

22 tion 3 (STAT3) mutations (autosomal dominant hyper-IgE syndrome [AD-HIES]) are partially protected fr

23 underlie sporadic and dominant forms of the hyper-IgE syndrome, an immunodeficiency syndrome involvi

24 disorders (found in 3 of 3 patients with the hyper-IgE syndrome and 4 of 7 patients with severe atopi

25 We studied 30 patients with the hyper-IgE syndrome and 70 of their relatives.

26 gitudinal clinical data on patients with the hyper-IgE syndrome and their families and assayed the le

27 Hyper-IgE syndromes and atopic dermatitis patients showe

28 and mononuclear cells from patients with the hyper-IgE syndrome, as compared with levels in control c

29 Similar to other hyper-IgE syndromes, but distinct from CRSwNP, AFRS pati

30 ation among patients with autosomal dominant hyper-IgE syndrome carrying heterozygous signal transduc

31 ciency with phenotypic similarities to STAT3 hyper-IgE syndrome caused by loss of function of GP130.

32 c health concern and a major complication of hyper-IgE syndrome, caused by mutations in STAT3.

33 8) gene cause an autosomal recessive form of hyper-IgE syndrome, characterized by chronic immunodefic

34 eactions in patients with autosomal dominant hyper-IgE syndrome compared with that seen in atopic sub

35 Patients with autosomal-dominant hyper-IgE syndrome due to STAT3 deficiency are particula

36 n contrast, the cells from patients with the hyper-IgE syndrome generated lower levels of monocyte ch

37 The autosomal recessive hyper-IgE syndrome (HIES) caused by dedicator of cytokin

38 T, encoding GP130, cause a recessive form of hyper-IgE syndrome (HIES) characterized by high IgE leve

39 The hyper-IgE syndrome (HIES) is a rare primary immunodefici

40 is the main cause of the autosomal recessive hyper-IgE syndrome (HIES).

41 also classified as autosomal recessive (AR) hyper-IgE syndrome (HIES).

42 um IgE levels characterize patients with the hyper-IgE syndrome (HIES).

43 The autosomal dominant hyper-IgE syndrome (HIES, 'Job's syndrome') is character

44 Hyper-IgE syndromes (HIES) are a clinically overlapping,

45 The hyper-IgE syndromes (HIES) are primary immunodeficiencie

46 severe atopic dermatitis (AD) overlaps with hyper-IgE syndromes (HIES) regarding eczema, eosinophili

47 The hyper-IgE syndrome is a multisystem disorder that affect

48 ncy is unknown, and the genetic basis of the hyper-IgE syndrome is poorly understood.

49 Hyperimmunoglobulinemia E syndrome (hyper-IgE syndrome, Job syndrome, HIES) is a complex imm

50 cell, collagen, and goblet cell hyperplasia; hyper IgE syndrome; mucus plugging; and extensive induci

51 The hyper-IgE syndrome (or Job's syndrome) is a rare disorde

52 The clinical diagnosis of hyper-IgE syndrome (P < .001), onset of disease at great

53 transducer and activator of transcription 3 hyper-IgE syndrome (STAT3-HIES) is caused by heterozygou

54 STAT3 hyper-IgE syndrome (STAT3-HIES) patients presented with

55 Rationale: Hyper-IgE syndrome (STAT3-HIES), also known as Job's syn

56 ith the rare immunodeficiency disorder STAT3 hyper-IgE syndrome (STAT3-HIES).

57 Autosomal dominant transmission of the hyper-IgE syndrome was found, but with variable expressi

58 Nonimmunologic features of the hyper-IgE syndrome were present in all patients older th

59 cells from patients with autosomal dominant hyper-IgE syndrome, which is caused by STAT3 deficiency,

60 mory B cells were described in patients with hyper-IgE syndrome, which is consistent with defective a

61 Recently, patients with hyper-IgE syndrome, who often present with S. aureus inf

62 d agammaglobulinemia, Ataxia Telangiectasia, Hyper-IgE syndrome, Wiskott Aldrich syndrome, Mendelian

63 The hyper-IgE syndrome with recurrent infections is a rare i