Novel biallelic TRNTI mutations resulting in sideroblastic anemia, combined B and T cell defects, hypogammaglobulinemia, recurrent infections, hypertrophic cardiomyopathy and developmental delay

著录项

• 来源
  《Clinical immunology: The official journal of the Clinical Immunology Society》 |2018年第2018期|共3页
• 作者

  Lougaris Vassilios; Chou Janet; Baronio Manuela; Gazzurelli Luisa; Lorenzini Tiziana; Soresina Annarosa; Moratto Daniele; Badolato Raffaele; Seleman Michael; Bellettato Massimo; Geha Raif S.; Plebani Alessandro;

  展开▼
• 作者单位

  Univ Brescia ASST Spedali Civili Brescia Pediat Clin Brescia Italy;

  Harvard Med Sch Childrens Hosp Div Immunol Boston MA USA;

  Univ Brescia ASST Spedali Civili Brescia Pediat Clin Brescia Italy;

  Univ Brescia ASST Spedali Civili Brescia Pediat Clin Brescia Italy;

  Univ Brescia ASST Spedali Civili Brescia Pediat Clin Brescia Italy;

  ASST Spedali Civili Brescia Pediat Clin Brescia Italy;

  Univ Brescia Inst Mol Med A Nocivelli Dept Mol &

  Translat Med Dept Pathol Spedali Civili Brescia;

  Univ Brescia ASST Spedali Civili Brescia Pediat Clin Brescia Italy;

  Harvard Med Sch Childrens Hosp Div Immunol Boston MA USA;

  Osped San Bortolo Neonatal Intens Care Unit Vicenza Italy;

  Harvard Med Sch Childrens Hosp Div Immunol Boston MA USA;

  Univ Brescia ASST Spedali Civili Brescia Pediat Clin Brescia Italy;

  展开▼
• 收录信息
• 原文格式 PDF
• 正文语种 eng
• 中图分类 医学免疫学;
• 关键词

  TRNT1; B cells; T cells; Hypogammaglobulinemia;

  机译：trnt1;b细胞;t细胞;低氧紊乱;