%0 Case Reports
%T Tocilizumab effectively reduces flares of hyperimmunoglobulin D syndrome in children: Three cases in China.
%A Li C
%A Chen X
%A Tang X
%A Zeng H
%A Zhou J
%J Mol Genet Metab Rep
%V 40
%N 0
%D 2024 Sep
%M 38983106
%F 2.082
%R 10.1016/j.ymgmr.2024.101105
%X 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.