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A congenital mutation of the novel gene LRRC8 causes agammaglobulinemia in humans
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Agammaglobulinemia and absent B lineage cells in a patient lacking the p85α subunit of PI3K
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This paper shows that the absence of p85α in human results in an early and severe defect in B-cell development. The characteristic of p85α deficiency is decreased Pro-B-cells. It is different from the other genetic defects causing agammaglobulinemia.
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84857800335
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•], describe the novel genetic defects that cause CD27 deficiency. It provides a diagnostic strategy for patients with immunodeficiency and severe EBV infection.
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