A human non-XLA immunodeficiency disease characterized by blockage of B cell development at an early proB cell stage.
A human non-XLA immunodeficiency disease characterized by blockage of B cell development at an early proB cell stage.
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一种人类非 XLA 免疫缺陷疾病，其特征是早期 proB 细胞阶段 B 细胞发育受阻。
DOI：
10.1172/jci118943
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发表时间：
1996
期刊：
影响因子：
--
通讯作者：
Claudine Schiff
中科院分区：
文献类型：
--
作者：
Eric Meffre;F. Ledeist;G. Saint;A. Deville;M. Fougereau;Anne;Claudine Schiff
We report a detailed analysis of a B cell defect affecting a patient girl born from first cousin parents, characterized by a severe non-X-linked agammaglobulinemia with a total absence of CD19- cells in the periphery. In the bone marrow, CD19 expression was also highly impaired, resulting in the absence of both B and preB compartments. By contrast, CD34+CD10+, CD34psiL+, and some CD19+CD10+ mostly CD34+ early proB cells were present, although diminished. Semiquantitative RT-PCR analysis performed on mononuclear bone marrow cells indicated that lambda-like, VpreB, Rag-1, Rag-2, and TdT transcripts expressed during proB cell stages were found at normal levels whereas E2A, CD10, Syk, Pax-5, CD19, Igalpha, Igbeta, VH-Cmu, and Vkappa-Ckappa transcripts characteristic of later stages were severely depressed. This phenotype resembles that of Pax-5 knock-out mice, but since the coding sequence of the patient Pax-5 cDNA was shown to be normal, the defect might rather result from an altered regulation of this gene. All these data indicate that the patient suffers from a new genetic defect that results in an arrest of differentiation within the proB cell compartment, i.e., earlier than X-linked agammaglobulinemia, before the onset of Ig gene rearrangements.
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影响因子：
32.4
作者：
GRAWUNDER, U;LEU, TMJ;WINKLER, TH
通讯作者：
WINKLER, TH
影响因子：
4.4
作者：
M. Conley
通讯作者：
M. Conley
影响因子：
4.4
作者：
C. Nunez;N. Nishimoto;G. Gartland;L. Billips;P. Burrows;H. Kubagawa;M. Cooper;M. Cooper
通讯作者：
C. Nunez;N. Nishimoto;G. Gartland;L. Billips;P. Burrows;H. Kubagawa;M. Cooper;M. Cooper
DOI：
10.1073/pnas.88.14.6284
发表时间：
1991-07
影响因子：
11.1
作者：
N. Nishimoto;H. Kubagawa;T. Ohno;G. Gartland;A. Stanković;Max D. CooPE
通讯作者：
N. Nishimoto;H. Kubagawa;T. Ohno;G. Gartland;A. Stanković;Max D. CooPE
影响因子：
32.4
作者：
KERNER, JD;APPLEBY, MW;PERLMUTTER, RM
通讯作者：
PERLMUTTER, RM