Molecular Genetics and Metabolism Reports (Sep 2024)

Tocilizumab effectively reduces flares of hyperimmunoglobulin D syndrome in children: Three cases in China

  • Chenxi Li,
  • Xiangyuan Chen,
  • Xilong Tang,
  • Huasong Zeng,
  • Juan Zhou

Journal volume & issue
Vol. 40
p. 101105

Abstract

Read online

Hyperimmunoglobulin D syndrome (HIDS) is a rare but severe autoinflammatory disease with a poor prognosis if not diagnosed and treated early. Here, we report three cases of HIDS in children with typical clinical manifestations and a clear genetic diagnosis. Patient 1 experienced recurrent fever flares with a maculo-papular skin rash. Patient 2 presented with periodic fever, cholestasis, lymphadenopathy, aphthous stomatitis, arthralgia, and abdominal pain and underwent surgery for intestinal obstruction. Patient 3, a sibling of patient 2, presented with periodic fever and underwent a surgical procedure for intussusception. All three patients were administered interleukin (IL)-6 receptor antagonist (tocilizumab). The results showed that tocilizumab effectively reduced inflammatory flares. Early diagnosis and tocilizumab treatment are effective at improving the prognosis of HIDS patients.

Keywords