ライフサイエンスコーパス: hyper-IgM syndrome

1 nitive therapeutic options for patients with hyper IgM syndrome.

2 detection and carrier detection in X-linked hyper IgM syndrome.

3 and are responsible for the X-linked form of hyper IgM syndrome.

4 ion that is absent in patients with X-linked hyper-IgM syndrome.

5 cy, immunoglobulin A deficiency, or X-linked hyper-IgM syndrome.

6 variants with truncated E5 in patients with hyper-IgM syndrome 2 and establish that AID, through the

7 d clinical feature of patients with X-linked hyper-IgM syndrome, an inherited immune deficiency disor

8 unistic infections in patients with X-linked hyper IgM syndrome and in patients with human immunodefi

9 ibed to cause atypical SCID, Omenn syndrome, Hyper IgM syndrome and inflammatory bowel disease-all wi

10 ed primary immunodeficiency characterized by hyper-IgM syndrome and hypohydrotic ectodermal dysplasia

11 hese findings now explain cases of autosomal hyper-IgM syndrome and reveal that critical components f

12 an susceptibility to mycobacterial diseases, Hyper-IgM syndrome, autoimmune lymphoproliferative syndr

13 inguish X-linked disease from other forms of hyper IgM syndrome have been reported, nor are there tes

14 -linked anhidrotic ectodermal dysplasia with hyper-IgM syndrome (HED-ID) who have deficient expressio

15 cells from a patient (pt1) with non-X-linked hyper-IgM syndrome (HIGM) possess an atypical CD23(lo) p

16 initiate GC responses, patients with type 1 hyper-IgM syndrome (HIGM1) support populations of IgM(+)

17 Hyper-IgM syndrome (HIM) is a rare immunodeficiency diso

18 With genetic defects in the hyper IgM syndrome identified, it is possible to diagnos

19 To establish the underlying cause of hyper-IgM syndrome in one female patient, B cell functio

20 The hyper IgM syndrome is a rare, inherited immune deficienc

21 X-linked hyper-IgM syndrome is a rare immunodeficiency disorder r

22 ited deficiency of the CD40 ligand (X-linked hyper-IgM syndrome) is characterized by failure of immun

23 upts AID-G4 binding modeled the pathology of hyper-IgM syndrome patients with an orthologous mutation

24 Hyper-IgM syndromes result from mutations in CD40 ligand

25 ts with common variable immunodeficiency and hyper IgM syndrome, suggests a potential narrow target f

26 s in CD40L that induce immunodeficiency with hyper-IgM syndrome type 1 (HIGM1) are clustered in the i

27 rimer interface, at a site where four HIGM1 (hyper-IgM syndrome type 1) mutations are clustered.

28 Loss-of-function mutations in AID lead to hyper-IgM syndrome type 2 (HIGM2), a rare human primary

29 Although hyper-IgM syndrome type 2 is rare, the 23 missense mutat

30 Hyper-IgM syndrome type 2 stems from mutations in activa

31 duced by bacterial products in patients with hyper-IgM syndrome who lack CD40 ligand expression and i

32 ical autoimmune complications; patients with hyper-IgM syndromes who are deficient in activation-indu

33 ne cases of X-linked hyper-immunoglobulin M (hyper-IgM) syndrome who, due to a mutation in CD40 ligan

34 aB essential modulator (NEMO) cause X-linked hyper-IgM syndrome with ectodermal dysplasia (XHM-ED).

35 Patients with X-linked hyper-IgM syndrome (X-HIGM) due to CD40 ligand (CD40L) m

36 Subjects with X-linked hyper-IgM syndrome (X-HIgM) have a markedly reduced freq

37 nses in immunodeficiencies known as X-linked hyper-IgM syndrome (X-HIgM).

38 onic granulomatous disease (X-CGD), X-linked hyper IgM syndrome (XHIGM), and immune dysregulation, po

39 X-linked hyper-IgM syndrome (XHIGM) is a primary immunodeficiency

40 X-linked hyper IgM syndrome (XHIM) is a primary immunodeficiency

41 The X-linked hyper-IgM syndrome (XHIM) is a primary immunodeficiency

42 X-linked hyper-IgM syndrome (XHIM) results from mutations in the

43 ated, the clinical consequences are X-linked hyper-IgM syndrome (XHIM), a primary immunodeficiency di

44 Three patients with X-linked hyper-IgM syndrome (XHIM), who were all asymptomatic unt

45 X-linked hyper IgM syndrome (XHM) is a combined immune deficiency