MedElevator
Войти в исследования Outcomes and Treatment Strategies for Autoimmunity and Hyperinflammation in Patients with RAG Deficiency.
Обработка статьи · этапы, ошибки и управление
Ошибки и ограничения
История · было → стало
Состояние обновляется каждые 5 секунд, пока блок открыт. Процент показывается только там, где известен объём работы. Пауза останавливает продолжение этапа; текущий запрос к источнику может завершиться.
Farmer Jocelyn R, Foldvari Zsofia, Ujhazi Boglarka, De Ravin Suk See, Chen Karin, Bleesing Jack J H, Schuetz Catharina, Al-Herz Waleed, Abraham Roshini S, Joshi Avni Y, Costa-Carvalho Beatriz T, Buchbinder David, Booth Claire, Reiff Andreas, Ferguson Polly J, Aghamohammadi Asghar, Abolhassani Hassan, Puck Jennifer M, Adeli Mehdi, Cancrini Caterina, Palma Paolo, Bertaina Alice, Locatelli Franco, Di Matteo Gigliola, Geha Raif S, Kanariou Maria G, Lycopoulou Lilia, Tzanoudaki Marianna, Sleasman John W, Parikh Suhag, Pinero Gloria, Fischer Bernard M, Dbaibo Ghassan, Unal Ekrem, Patiroglu Turkan, Karakukcu Musa, Al-Saad Khulood Khalifa, Dilley Meredith A, Pai Sung-Yun, Dutmer Cullen M, Gelfand Erwin W, Geier Christoph B, Eibl Martha M, Wolf Hermann M, Henderson Lauren A, Hazen Melissa M, Bonfim Carmem, Wolska-Kuśnierz Beata, Butte Manish J, Hernandez Joseph D, Nicholas Sarah K, Stepensky Polina, Chandrakasan Shanmuganathan, Miano Maurizio, Westermann-Clark Emma, Goda Vera, Kriván Gergely, Holland Steven M, Fadugba Olajumoke, Henrickson Sarah E, Ozen Ahmet, Karakoc-Aydiner Elif, Baris Safa, Kiykim Ayca, Bredius Robbert, Hoeger Birgit, Boztug Kaan, Pashchenko Olga, Neven Benedicte, Moshous Despina, Villartay Jean-Pierre de, Bousfiha Ahmed Aziz, Hill Harry R, Notarangelo Luigi D, Walter Jolan E
Аннотация
OBJECTIVE: Understand the frequency, severity, and treatment responsiveness of autoimmunity and hyperinflammation in RAG deficiency.
METHODS: In reviewing the literature and our own database, we identified 85 patients with RAG deficiency, reported between 2001 and 2016, and compiled the largest case series to date of 63 patients with prominent autoimmune and/or hyperinflammatory pathology.
RESULTS: Diagnosis of RAG deficiency was delayed a median of 5 years from the first clinical signs of immune dysregulation. Most patients (55.6%) presented with more than 1 autoimmune or hyperinflammatory complication, with the most common etiologies being cytopenias (84.1%), granulomas (23.8%), and inflammatory skin disorders (19.0%). Infections, including live viral vaccinations, closely preceded the onset of autoimmunity in 28.6% of cases. Autoimmune cytopenias had early onset (median, 1.9, 2.1, and 2.6 years for autoimmune hemolytic anemia, immune thrombocytopenia, and autoimmune neutropenia, respectively) and were refractory to intravenous immunoglobulin, steroids, and rituximab in most cases (64.7%, 73.7%, and 71.4% for autoimmune hemolytic anemia, immune thrombocytopenia, and autoimmune neutropenia, respectively). Evans syndrome specifically was associated with lack of response to first-line therapy. Treatment-refractory autoimmunity/hyperinflammation prompted hematopoietic stem cell transplantation in 20 patients.
CONCLUSIONS: Autoimmunity/hyperinflammation can be a presenting sign of RAG deficiency and should prompt further evaluation. Multilineage cytopenias are often refractory to immunosuppressive treatment and may require hematopoietic cell transplantation for definitive management.