{Reference Type}: Case Reports
{Title}: Tocilizumab effectively reduces flares of hyperimmunoglobulin D syndrome in children: Three cases in China.
{Author}: Li C;Chen X;Tang X;Zeng H;Zhou J;
{Journal}: Mol Genet Metab Rep
{Volume}: 40
{Issue}: 0
{Year}: 2024 Sep
{Factor}: 2.082
{DOI}: 10.1016/j.ymgmr.2024.101105
{Abstract}: 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.