Leflunomide Is Safe and Effective for the Induction and Maintenance of Idiopathic Pulmonary Hemosiderosis Remission.

Objective: The present study was aimed to investigate the efficacy of leflunomide in idiopathic pulmonary hemosiderosis (IPH) disease control and glucocorticoid attenuation. Methods: The efficacy of leflunomide was determined based on disease control, safety, and glucocorticoid attenuation. Result: A total of 46 children with IPH were included in the present study. Of these 31 patients had been unsuccessfully treated with glucocorticoids before admission at our hospital and did not achieve complete remission; the other 15 patients had not previously received steroids. Leflunomide combined with glucocorticoid was administered to all patients, and all were followed up for a median duration of 3 years. The average hemoglobin level significantly increased and the median minimum steroid dose was significantly decreased after leflunomide administration. Conclusion: Leflunomide safely and effectively induced and maintained IPH remission and decreased IPH relapse and glucocorticoid dose.

Clinical outcome in pediatric refractory gastrointestinal Henoch-Schönlein purpura treated with mycophenolate mofetil.

The aim of the present study was to investigate the clinical outcome of mycophenolate mofetil in pediatric refractory gastrointestinal (GI) Henoch-Schönlein purpura (HSP). Most of the HSP patients with GI symptoms may benefit from early introduction of glucocorticoid; however, a number of patients still do not achieve remission following the administration of steroids. Therefore, the present study was to investigate the clinical features and the clinical outcome of mycophenolate mofetil in refractory GI HSP. A total of 110 HSP patients with a median onset age of 6.3 years were included. Sixty-one (55.5%) exhibited GI involvement, and 18 (18/61, 29.5%) presented with refractory GI involvement, with a median onset age of 6.3 years. Intractable abdominal pain, GI hemorrhage, intussusception, and chronic ulcers were common presentations of GI involvement. Of those refractory ones, Arthralgia was observed in 9 cases and renal involvement was observed in 13 cases. Glucocorticoids were administered in all 18 patients, but remission was not achieved. However, complete remission of abdominal pain was achieved in all patients within a median time of 3 days (1-14 days) after mycophenolate mofetil therapy. The infection rate of Epstein-Barr virus and cytomegalovirus in the refractory group was significantly higher compared with that in non-refractory group.Conclusion: GI symptoms in HSP patients with refractory GI involvement were more severe compared with non-refractory cases. Epstein-Barr virus and cytomegalovirus infection may be risk factors for refractory GI HSP. The efficacy of mycophenolate mofetil treatment was evident in these patients. What is Known: • Abdominal pain, gastrointestinal hemorrhage, intussusceptions, and intestinal perforation were the main presentations of gastrointestinal involvement in Henoch-Schönlein purpura. What is New: • Epstein-Barr virus and Cytomegalovirus infection may be the high risk factor of refractory GI. Refractory gastrointestinal Henoch-Schönlein purpura was associated with renal involvement. • Mycophenolate mofetil treatment was effective for refractory gastrointestinal Henoch-Schönlein purpura.

A Novel RAG1 Mutation in a Compound Heterozygous Status in a Child With Omenn Syndrome.

Omenn syndrome is a rare autosomal recessive disorder characterized by severe, combined immunodeficiency and autoimmune features. In this case study, we found Omenn syndrome in a 3-month-old boy with recurrent infection, erythroderma, axillary lymphadenopathy, and hepatosplenomegaly. The numbers of eosinophile granulocytes and the levels of immunoglobulin E in his blood were distinctly elevated. Circulating B cells were absent, and the numbers of activated T lymphocytes were present in his peripheral blood. The production of T cell cytokines was significantly higher in the patient compared to the control samples except for interferon gamma. Whole exome sequencing revealed that the patient carried compound heterozygous mutations in the RAG1 gene, which included a previously undescribed frameshift mutation (exon 2, 2491_2497del, p. K830fsX4) and a missense mutation (exon 2, 2923 C > T, p.R975W).

Corticosteroid in Combination with Leflunomide and Mesenchymal Stem Cells for Treatment of Pediatric Idiopathic Pulmonary Hemosiderosis.

Background: This study evaluated the efficiency of corticosteroid, leflunomide and mesenchymal stem cells (MSCs) in the treatment of pediatric idiopathic pulmonary hemosiderosis (IPH). Methods: Ten patients were included in the study. The diagnosis of IPH was based on clinical symptoms, laboratory examinations and pulmonary hemosiderosis. Induction therapy consisted of methylprednisolone pulse therapy, followed by prednisone plus leflunomide. Maintenance therapy consisted of low-dose prednisone, leflunomide and administration of MSCs. Results: All the patients achieved complete response after treatment with corticosteroid, leflunomide and MSCs. The median follow-up was 23 months (range: 4-34 months). Moreover, administration of MSCs induced an increase in the percentage of CD4+ CD25+ regulatory T cells but a decrease in the percentage of Th17 cells. Conclusion: Treatment with corticosteroid, leflunomide and MSCs for pediatric IPH was safe and effective.