Case Report: STAT3 hyper-IgE syndrome in children: two cases report with uncommon complications of tuberculosis and lymphoma.

BACKGROUND: Hyper-IgE syndrome (HIES) is a rare primary immunodeficiency disorder distinguished by a triad of eczema, recurrent skin and pulmonary infections, and elevated serum IgE levels. The loss-of-function mutations in signal transducer and activator of transcription 3 (STAT3) result in STAT3-HIES, which is considered the prototype form of HIES. Patients with STAT3-HIES are susceptible to Staphylococcus aureus and Candida albicans, while Mycobacterium tuberculosis infection is rare, usually accompanied by multiple non-immunologic features including skeletal and connective tissue abnormalities, and the increasing risk of lymphoma. Owing to the diverse clinical manifestations of this disease and the lack of specific symptoms in its early stage, delayed diagnosis often occurs. CASE PRESENTATION: This report describes two cases of children with STAT3-HIES. One case was a 3-year-old child who presented with intestinal intussusception as the initial symptom and was considered to have probable intestinal tuberculosis and accompanied by miliary pulmonary tuberculosis, and tuberculosis was cured after one year of anti-infection treatment, HIES combined with intestinal tuberculosis presenting with intussusception as the clinical manifestation has never been reported. Second case was a 16-year-old child who was diagnosed with anaplastic lymphoma kinase-negative anaplastic large cell lymphoma because of swollen lymph nodes in the neck at the age of 10, he underwent allogeneic hematopoietic stem cell transplantation when he was 16 years old, unfortunately he died of lung infection after three months. CONCLUSION: The cases described in this article enhance our understanding of the manifestations, treatment and prognosis of this syndrome, highlighting the hazards of active tuberculosis and lymphoma in patients with HIES, as well as the importance of timely diagnosis, individualized treatment and follow-up.