Identification of a heterozygous pathogenic variant in IRAK4 in an adult patient with pneumococcal sepsis, monoclonal gammopathy of uncertain significance, and idiopathic systemic capillary leak syndrome.
Identification of a heterozygous pathogenic variant in IRAK4 in an adult patient with pneumococcal sepsis, monoclonal gammopathy of uncertain significance, and idiopathic systemic capillary leak syndrome.
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在患有肺炎球菌败血症、意义不明的单克隆丙种球蛋白病和特发性全身性毛细血管渗漏综合征的成年患者中鉴定 IRAK4 杂合致病性变异。
DOI:
10.1016/j.jacig.2023.100116
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发表时间:
2023
期刊:
影响因子:
--
通讯作者:
Alam,Rafeul
中科院分区:
文献类型:
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作者:
Galant-Swafford,Jessica;Druey,KirkM;Verma,Divya;Alam,Rafeul