Long-term outcome of LRBA deficiency in 76 patients after various treatment modalities as evaluated by the immune deficiency and dysregulation activity (IDDA) score

Background: Recent findings strongly support hematopoietic stem cell transplantation (HSCT) in patients with severe presentation of LPS-responsive beige-like anchor protein (LRBA) deficiency, but long-term follow-up and survival data beyond previous patient reports or meta-reviews are scarce for those patients who do not receive a transplant.Objective: This international retrospective study was conducted to elucidate the longitudinal clinical course of patients with LRBA deficiency who do and do not receive a transplant.Method: We assessed disease burden and treatment responses with a specially developed immune deficiency and dysregulation activity score, reflecting the sum and severity of organ involvement and infections, days of hospitalization, supportive care requirements, and performance indices.Results: Of 76 patients with LRBA deficiency from 29 centers (median follow-up, 10 years; range, 1-52), 24 underwent HSCT from 2005 to 2019. The overall survival rate after HSCT (median follow-up, 20 months) was 70.8% (17 of 24 patients); all deaths were due to nonspecific, early, transplant-related mortality. Currently, 82.7% of patients who did not receive a transplant (43 of 52; age range, 3-69 years) are alive. Of 17 HSCT survivors, 7 are in complete remission and 5 are in good partial remission without treatment (together, 12 of 17 [70.6%]). In contrast, only 5 of 43 patients who did not receive a transplant (11.6%) are without immunosuppression. Immune deficiency and dysregulation activity scores were significantly lower in patients who survived HSCT than in those receiving conventional treatment (P = .005) or in patients who received abatacept or sirolimus as compared with other therapies, and in patients with residual LRBA expression. Higher disease burden, longer duration before HSCT, and lung involvement were associated with poor outcome.Conclusion: The lifelong disease activity, implying a need for immunosuppression and risk of malignancy, must be weighed against the risks of HSCT.Transplantation and immunomodulatio

Registro ACESUR: atención de pacientes adultos con crisis epilépticas en servicios de urgencias: diferencias entre primer episodio y recurrencia

Objetivo. Describir las características y la atención recibida de pacientes adultos que consultan por crisis epiléptica (CE) en los servicios de urgencias hospitalarios (SUH), diferenciando entre primera crisis y recurrencia en epiléptico conocido. Método. ACESUR es un registro observacional de cohortes multipropósito, prospectivo y multicéntrico con un muestreo sistemático, los días pares de febrero y julio alternando con los impares de abril y octubre de 2017. Se incluyeron pacientes 18 años con diagnóstico de CE en los SUH. Se recogieron variables clínico-asistenciales de la visita índice de pacientes, distinguiendo entre primera CE y recurrencia en epiléptico. Resultados. El registro ACESUR recogió a 664 pacientes procedentes de 18 SUH españoles, 229 (34, 5%) con primera CE y 435 (65, 5%) con CE recurrentes. Los pacientes con primera CE fueron de mayor edad (p < 0, 001), presentaron motivos de consulta distintos (p < 0, 001) y requirieron más traslados en ambulancia (p < 0, 001). La atención recibida en el SUH fue diferente, en pacientes con primera CE se solicitó con mayor probabilidad una prueba complementaria específica (OR ajustada = 13, 94; IC95%:7, 29-26, 7; p < 0, 001) y se necesitó mayor hospitalización o estancia prolongada en el SUH (OR ajustada = 1, 69; IC95%:1, 11-2, 58; p = 0, 015). No hubo diferencias en cuanto al tratamiento farmacológico en fase aguda ni preventivo (OR ajustada = 1, 40; IC95%:0, 94-2, 09; p = 0, 096). Se inició tratamiento con fármacos antiepiépticos (FAE) en 100 pacientes (43, 7%) tras primera CE y se reinició o modificó añadiendo nuevo FAE en 142 pacientes (32, 6%) con CE recurrentes. Conclusiones. Las características clínicas y la atención recibida de pacientes adultos con primera CE en SUH en España difieren de las recurrencias en epiléptico conocido. Objective. To describe the characteristics of care received by patients who come to the emergency department with a first epileptic seizure versus a recurrent seizure in a patient with diagnosed epilepsy. Methods. ACESUR (Acute Epileptic Seizures in the Emergency Department) is a prospective multicenter, multipurpose registry of cases obtained by systematic sampling on even days in February and July 2017 and on odd days in April and October 2017. Patients were aged 18 years or older and had an emergency department diagnosis of epileptic seizure. We recorded clinical variables and details related to care given during each patient''s visit, including whether the event was a first or recurrent seizure. Results. A total of 664 patients attended by 18 Spanish emergency departments were entered into the ACESUR registry. Two hundred twenty-nine (34.5%) were first seizures and 435 (65.5%) were recurrences. Patients who were attended for first seizures were older, consulted for a wider variety of reasons, and were transported in ambulances (P<.001, all comparisons). Care received differed between patients with first seizures versus recurrent seizures. Specific complementary testing was more likely in patients with first seizures (adjusted odds ratio [aOR], 13.94; 95% CI, 29-26.7; P<.001), and they were more often hospitalized or stayed longer in the emergency department, (aOR, 1.69; 95% CI, 1.11-2.58; P=.015). Pharmacologic treatment did not differ between the groups, either in the acute phase or for prevention (aOR, 1.40; 95% CI, 0.94-2.09; P=.096). Antiepileptic drugs were given to 100 patients (43.7%) after a first seizure and were restarted or changed in 142 patients with recurrent seizure (32.6%). Conclusions. The clinical characteristics of adults attended for a first epileptic seizure differ from those of patients with diagnosed epilepsy who were attended for recurrent seizures in Spain. The care received also differs