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1 asplenia, and 2 of Bruton disease (X-linked agammaglobulinemia).
2 her than common variable immunodeficiency or agammaglobulinemia.
3 volve the neighboring gene BTK, resulting in agammaglobulinemia.
4 d was 1.3:100,000, almost double of X-linked agammaglobulinemia.
5 evels; prior anti-CD20 therapy, and X-linked agammaglobulinemia.
6 and represent an autosomal dominant form of agammaglobulinemia.
7 mal in BTK, the gene that underlies X-linked agammaglobulinemia.
8 ion might play a role in X chromosome-linked agammaglobulinemia.
9 aling culminate in X-linked and non-X-linked agammaglobulinemia.
10 y immunodeficiency diseases characterized by agammaglobulinemia.
11 in human B-cell ontogeny leading to X-linked agammaglobulinemia.
12 that mutations in Igalpha can be a cause of agammaglobulinemia.
13 ions in BTK cause a severe B-cell defect and agammaglobulinemia.
14 results in a clinical phenotype of X-linked agammaglobulinemia.
15 versus BTK-deficient patients with X-linked agammaglobulinemia.
16 MSD or MUD HSCT for treatment of congenital agammaglobulinemia.
17 the human btk gene are the cause of X-linked agammaglobulinemia, a male immune deficiency disorder ch
18 s in a variety of genes can cause congenital agammaglobulinemia and a failure of B cell development.
19 terminal LRRs was reported in a patient with agammaglobulinemia and absent B cells and was demonstrat
20 ive disease characterized by absent B cells, agammaglobulinemia and early onset infections in five un
21 Approximately 90% of patients with isolated agammaglobulinemia and failure of B cell development hav
23 ponse was detected in patients with X-linked agammaglobulinemia and in patients with CVID with noninf
29 tyrosine kinase (Btk) causes human X-linked agammaglobulinemia and murine X-linked immunodeficiency
30 he novel entity of SCID was characterized by agammaglobulinemia and profoundly deficient T-cell funct
31 indings molecularly describe a novel form of agammaglobulinemia and underscore PU.1's critical, dose-
32 logical conditions such as myeloma, X-linked agammaglobulinemia, and HIV infection may provide insigh
33 The patients had hypogammaglobulinemia or agammaglobulinemia, and their peripheral-blood B cells a
34 iciency, leukocyte adhesion defect, X-linked agammaglobulinemia, Ataxia Telangiectasia, Hyper-IgE syn
35 ommon variable immunodeficiency and X-linked agammaglobulinemia, bacterial organisms are the most com
36 is standard-of-care treatment for congenital agammaglobulinemia but accrues high annual costs ($30 00
37 hoproliferative disease (XLP) is progressive agammaglobulinemia, caused by the absence of a functiona
38 or undefined antibody deficiencies, X-linked agammaglobulinemia, combined B- and T-cell immunodeficie
39 mice recapitulate a central feature of human agammaglobulinemia: CVB establishes chronic infection in
41 s study reports a disease entity termed ENDI-agammaglobulinemia (ENDI-A) syndrome and establishes an
42 the case of a 34-year-old man with X-linked agammaglobulinemia from Australia suffering from 3 years
43 ich is mutated in the human disease X-linked agammaglobulinemia, has been shown to interact with PI(3
44 n the PH-TH domain (R28H) linked to X-linked agammaglobulinemia impairs BTK activation at the membran
45 ts in the immunodeficiency diseases X-linked agammaglobulinemia in humans and X-linked immunodeficien
49 ted by the primary immune disorder, X-linked agammaglobulinemia in which patients are prone to chroni
50 se (Btk) result in a disease called X-linked agammaglobulinemia, in which there is a profound decreas
53 nomic evaluation of patients with congenital agammaglobulinemia, lifelong IRT cost more than HSCT ($1
54 deficiencies from early-onset diseases like agammaglobulinemia or more expansively dysfunctional com
56 R signaling deficiencies, including X-linked agammaglobulinemia, our findings suggest that CD22 may c
57 tyrosine kinase (Btk) is mutated in X-linked agammaglobulinemia patients and plays an essential role
60 y the X-linked immunodeficiency and X-linked agammaglobulinemia phenotypes of mice and men that expre
61 of a patient aged 12 months with congenital agammaglobulinemia receiving lifelong IRT vs MSD or MUD
62 st known adult, from unrelated families with agammaglobulinemia, recurrent infections, and hypertroph
64 T cell deficiencies, but not with congenital agammaglobulinemia, suggesting the importance of T cell
66 ment of gene therapy strategies for X-linked agammaglobulinemia, the immunodeficiency associated with
68 nfrequent, and acquired resistance to Bruton agammaglobulinemia tyrosine kinase (BTK) inhibition is b
69 b resistance to acquired mutations in Bruton agammaglobulinemia tyrosine kinase (BTK), the target of
70 ation was reported in patients with X-linked agammaglobulinemia, underscoring the important role of B
72 se (BTK) mutations as the cause for X-linked agammaglobulinemia was a milestone in understanding the
73 patient previously thought to have X-linked agammaglobulinemia was found to have an amino acid subst
75 of the Btk PH domain, which causes X-linked agammaglobulinemia, was introduced into the fluorescent
76 n individuals with the diagnosis of X-linked agammaglobulinemia were analyzed for mutations in Bruton
77 h chronic meningoencephalitis and underlying agammaglobulinemia were examined to determine enterovira
78 n the bone marrow present early in life with agammaglobulinemia, whereas incomplete antibody deficien
79 a and absent B cells are males with X-linked agammaglobulinemia, which is caused by mutations in the
80 l of N addition appears aberrant in X-linked agammaglobulinemia, which may exacerbate the block in B
81 elopment and patients with presumed X-linked agammaglobulinemia who did not have mutations in Btk.
82 ed immune deficiency, X-linked and autosomal agammaglobulinemia, Wiskott-Aldrich syndrome, and other
83 port spontaneous emergence of non-sex-linked agammaglobulinemia with B-cell deficiency and cutaneous
84 nfancy (ENDI) syndromes, but infantile-onset agammaglobulinemia with no mature B cells, resulting in
86 ombined immunodeficiency (SCID) and X-linked agammaglobulinemia (XLA) are inborn errors of immune fun
88 rited lack of mature B cells, i.e., X-linked agammaglobulinemia (XLA) displayed highly functional spi
90 ice or monocytes from patients with X-linked agammaglobulinemia (XLA) exhibited increased NLRP3 infla
93 's tyrosine kinase (btk) gene cause X-linked agammaglobulinemia (XLA) in humans and X-linked immune d
94 utations in Btk are responsible for X-linked agammaglobulinemia (XLA) in humans and X-linked immunode
95 uton's tyrosine kinase (Btk) causes X-linked agammaglobulinemia (XLA) in humans and X-linked immunode
96 n's tyrosine kinase (Btk) result in X-linked agammaglobulinemia (XLA) in humans and X-linked immunode
97 ause the B cell deficiency diseases X-linked agammaglobulinemia (XLA) in humans and X-linked immunode
98 lt in the B cell immunodeficiencies X-linked agammaglobulinemia (XLA) in humans and X-linked immunode
99 lt in the B cell immunodeficiencies X-linked agammaglobulinemia (XLA) in humans and X-linked immunode
108 id lines derived from patients with X-linked agammaglobulinemia (XLA) lacking Btk expression, as well
109 d cultured cells from patients with X-linked agammaglobulinemia (XLA) suggested defective TLR-driven
110 In 1993, two groups showed that X-linked agammaglobulinemia (XLA) was due to mutations in a tyros
111 ith wortmannin and in patients with X-linked agammaglobulinemia (XLA), a condition caused by a lack o
113 issues in gene therapy strategies: X-linked agammaglobulinemia (XLA), X-linked chronic granulomatous
121 mbined immune deficiency (SCID) and X-linked agammaglobulinemia (XLA); however, gain-of-function muta