对依那西普反应良好的儿科患者中罕见的自身炎症性疾病 : 伴有 B 细胞免疫缺陷的铁粒幼细胞贫血 ,周期性狂热,和发育延迟综合症。
关键词: TRNT1 growth hormone deficiency immunodeficiency periodic fever sideroblastic anemia TRNT1 growth hormone deficiency immunodeficiency periodic fever sideroblastic anemia
Mesh : Agammaglobulinemia / complications drug therapy genetics Amyloidosis / complications Anemia, Sideroblastic / complications drug therapy genetics Arthritis / complications Child Colchicine Etanercept / therapeutic use Fever / complications drug therapy Growth Hormone Humans Immunoglobulins, Intravenous Immunologic Deficiency Syndromes / complications genetics Infant Male Nucleotidyltransferases / genetics RNA, Transfer Agammaglobulinemia / complications drug therapy genetics Amyloidosis / complications Anemia, Sideroblastic / complications drug therapy genetics Arthritis / complications Child Colchicine Etanercept / therapeutic use Fever / complications drug therapy Growth Hormone Humans Immunoglobulins, Intravenous Immunologic Deficiency Syndromes / complications genetics Infant Male Nucleotidyltransferases / genetics RNA, Transfer
来 源: DOI:10.1089/ped.2022.0090