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1. Diagnostic evaluation of paediatric autoimmune lymphoproliferative immunodeficiencies (ALPID): a prospective cohort study

Author

Abinun, Mario, Abrahamsen, Tore G., Albert, Michael H., Almalky, Mohamed, Altaf, Sadaf, Babayeva, Royala, Bakhtiar, Shahrzad, Baris, Safa, Baumann, Ulrich, Becker, Martina, Beier, Rita, Berger, Thomas, Biebl, Ariane, Bielack, Stefan S., Biskup, Saskia, Bode, Sebastian FN, Borchers, Regine, Boztug, Kaan, Brockmann, Knut, Bruwier, Annelyse, Buchholz, Bernd, Caballero-Oteyza, Andres, Cant, Andrew J., Castro, Carla N., Classen, Carl F., Claviez, Alexander, Crazzolara, Roman, Cuntz, Franziska, Dąbrowska-Leonik, Nel, Derichs, Ute, Dückers, Gregor, Eberl, Wolfgang, Ebetsberger-Dachs, Georg, Erlacher, Miriam, Fabre, Alexandre, Faletti, Laura, Farmand, Susan, Figueiredo, Antonio E., Fischer, Marco, Flaadt, Tim, Full, Hermann, Gambineri, Eleonora, Girschick, Hermann, Goldacker, Sigune, Grimbacher, Bodo, Groß, Miriam, Gruhn, Bernd, Haberfellner, Florian, Hague, Rosie, Hauch, Holger, Hauck, Fabian, Heine, Sabine, Huisman, Elise J., Jakovljevic, Gordana, James, Beki, Janda, Ales, Jones, Neil, Kaiser-Labusch, Petra, Kentouche, Karim, Knight, Julian C., Knirsch, Stephanie, Kontny, Udo, Körholz, Julia, Krenn, Thomas, Kuehnle, Ingrid, Kühne, Thomas, Lee-Dimroth, Jae-Yun, Lehmann, Hartwig, Leipold, Alfred, Meinhardt, Andrea, Minkov, Milen, Mönkemöller, Kirsten, Morbach, Henner, Mücke, Urs, Nathrath, Michaela, Naumann-Bartsch, Nora, Neth, Olaf, Niemeyer, Charlotte M., Olbrich, Peter, Ostró, Róbert, Owens, Stephen, Pac, Malgorzata, Pachlopnik Schmid, Jana, Page, Matthew J.T., Pekrun, Arnulf, Prader, Seraina, Proietti, Michele, Rajacic, Nada, Rothoeft, Tobias, Ryan, Clodagh, Salou, Sarah, Salzer, Elisabeth, Savic, Sinisa, Schilling, Freimut H., Schönberger, Stefan, Schuetz, Catharina, Schuez-Havupalo, Linnea, Schulte, Björn, Schulz, Ansgar, Schuster, Volker, Seidel, Markus G., Siepermann, Kathrin, Skomska-Pawliszak, Malgorzata, Smisek, Petr, Soomann, Maarja, Stiefel, Martina, Storck, Simone, Strahm, Brigitte, Streiter, Monika, Teltschik, Heiko-Manuel, Thalhammer, Julian, Tippelt, Stephan, Toskov, Vasil, Trück, Johannes, Vieth, Simon, von Bismarck, Philipp, Wegehaupt, Oliver, Wiesel, Thomas, Wittkowski, Helmut, Yalcin Gungoren, Ezgi, Hägele, Pauline, Staus, Paulina, Scheible, Raphael, Uhlmann, Annette, Heeg, Maximilian, Klemann, Christian, Maccari, Maria Elena, Ritterbusch, Henrike, Armstrong, Martin, Cutcutache, Ioana, Elliott, Katherine S, von Bernuth, Horst, Leahy, Timothy Ronan, Leyh, Jörg, Holzinger, Dirk, Lehmberg, Kai, Svec, Peter, Masjosthusmann, Katja, Hambleton, Sophie, Jakob, Marcus, Sparber-Sauer, Monika, Kager, Leo, Puzik, Alexander, Wolkewitz, Martin, Lorenz, Myriam Ricarda, Schwarz, Klaus, Speckmann, Carsten, Rensing-Ehl, Anne, and Ehl, Stephan

Published
2024
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2. Diagnostic evaluation of paediatric autoimmune lymphoproliferative immunodeficiencies (ALPID): a prospective cohort study

Author

Hägele, Pauline, primary, Staus, Paulina, additional, Scheible, Raphael, additional, Uhlmann, Annette, additional, Heeg, Maximilian, additional, Klemann, Christian, additional, Maccari, Maria Elena, additional, Ritterbusch, Henrike, additional, Armstrong, Martin, additional, Cutcutache, Ioana, additional, Elliott, Katherine S, additional, von Bernuth, Horst, additional, Leahy, Timothy Ronan, additional, Leyh, Jörg, additional, Holzinger, Dirk, additional, Lehmberg, Kai, additional, Svec, Peter, additional, Masjosthusmann, Katja, additional, Hambleton, Sophie, additional, Jakob, Marcus, additional, Sparber-Sauer, Monika, additional, Kager, Leo, additional, Puzik, Alexander, additional, Wolkewitz, Martin, additional, Lorenz, Myriam Ricarda, additional, Schwarz, Klaus, additional, Speckmann, Carsten, additional, Rensing-Ehl, Anne, additional, Ehl, Stephan, additional, Abinun, Mario, additional, Abrahamsen, Tore, additional, Albert, Michael, additional, Almalky, Mohamed, additional, Altaf, Sadaf, additional, Babayeva, Royala, additional, Bakhtiar, Shahrzad, additional, Baris, Safa, additional, Baumann, Ulrich, additional, Becker, Martina, additional, Berger, Thomas, additional, Biebl, Ariane, additional, Bielack, Stefan, additional, Biskup, Saskia, additional, Bismarck, Philipp, additional, Bode, Sebastian, additional, Borchers, Regine, additional, Boztug, Carl Friedrich, additional, Brockmann, Knut, additional, Bruwier, Annelyse, additional, Buchholz, Bernd, additional, Cant, Andrew, additional, Castro, Carla N, additional, Classen, Carl, additional, Claviez, Alexander, additional, Crazzolara, Roman, additional, Cuntz, Franziska, additional, Dąbrowska-Leonik, Nel, additional, Derichs, Ute, additional, Dückers, Gregor, additional, Eberl, Wolfgang, additional, Ebetsberger-Dachs, Georg, additional, Erlacher, Miriam, additional, Fabre, Alexandre, additional, Faletti, Laura, additional, Farmand, Susan, additional, Figueiredo, Antonio, additional, Fischer, Marco, additional, Flaadt, Tim, additional, Full, Hermann, additional, Gambineri, Eleonora, additional, Girschick, Hermann, additional, Goldacker, Sigune, additional, Grimbacher, Bodo, additional, Groß, Miriam, additional, Gruhn, Andrew J, additional, Gungoren, Ezgi, additional, Haberfellner, Florian, additional, Hague, Rosie, additional, Hauch, Holger, additional, Hauck, Fabian, additional, Heine, Sabine, additional, Huisman, Elise, additional, Jakovljevic, Gordana, additional, James, Beki, additional, Janda, Ales, additional, Janda, Małgorzata, additional, Jones, Neil, additional, Kaiser-Labusch, Petra, additional, Kentouche, Karim, additional, Knight, Julian, additional, Knirsch, Stephanie, additional, Kontny, Udo, additional, Körholz, Julia, additional, Krenn, Ezgi Yalcin, additional, Kuehnle, Ingrid, additional, Kühne, Thomas, additional, Lee-Dimroth, Jae-Yun, additional, Lehmann, Hartwig, additional, Leipold, Michael H., additional, Meinhardt, Andrea, additional, Mönkemöller, Kirsten, additional, Morbach, Henner, additional, Mücke, Urs, additional, Nathrath, Michaela, additional, Naumann-Bartsch, Nora, additional, Neth, Olaf, additional, Niemeyer, Charlotte, additional, Olbrich, Peter, additional, Ostró, Róbert, additional, Owens, Stephen, additional, Pac, Malgorzata, additional, Pachlopnik Schmid, Rita, additional, Page, Markus G., additional, Pekrun, Arnulf, additional, Prader, Seraina, additional, Proietti, Michele, additional, Rajacic, Nada, additional, Rothoeft, Tobias, additional, Ryan, Freimut H., additional, Salou, Sarah, additional, Salzer, Elisabeth, additional, Savic, Sinisa, additional, Schilling, Antonio E., additional, Schmid, Jana, additional, Schönberger, Stefan, additional, Schuetz, Catharina, additional, Schuez-Havupalo, Tore G., additional, Schulte, Björn, additional, Schulz, Ansgar, additional, Schuster, Volker, additional, Seidel, Markus, additional, Siepermann, Kathrin, additional, Smisek, Petr, additional, Soomann, Maarja, additional, Stiefel, Martina, additional, Storck, Simone, additional, Strahm, Brigitte, additional, Streiter, Elise J, additional, Teltschik, Charlotte M., additional, Thalhammer, Julian, additional, Tippelt, Stephan, additional, Toskov, Vasil, additional, Trück, Johannes, additional, Vieth, Simon, additional, Wegehaupt, Oliver, additional, and Wiesel, Thomas, additional

Published
2024
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6. Factors Influencing Change in MCV and Age at Transplantation in the Belgian Sickle Cell Disease Registry

Author

Bruwier Annelyse, Béatrice Gulbis, Philip Maes, Alina Ferster, Veerle Labarque, Sarah Wambacq, Anna Vanderfaeillie, André Efira, Laurence Dedeken, Phu Quoc Lê, Fleur Samantha Benghiat, Bénédicte Brichard, Catherine Heijmans, Pierre Philippet, Marie-Françoise Dresse, An Van Damme, and Bram De Wilde

Subjects
Transplantation, medicine.medical_specialty, Disease registry, medicine.anatomical_structure, business.industry, Internal medicine, Immunology, Cell, medicine, Cell Biology, Hematology, business, Biochemistry
Abstract

The Belgian sickle cell disease registry (BCR) was initiated in 2008 and aims to evaluate mortality, morbidity as well as clinicals practices in participating centers. The current analysis focuses on criteria influencing age at transplantation (HSCT) and on the management of Hydroxyurea (HU) therapy across centers. The methodology of the registry has already been published (Le PQ et al., Pediatric Blood and Cancer, 2015) . Data are recorded prospectively from neonatal screening or first contact until last annual follow-up (FU) or death. The data collected included diagnosis, demography, treatment and outcome data as well as a minimal set of biological values. Data were extracted from the database in May 2021. There are 1029 patients registered by 14 different centers (2 centers exclusively treating adult patients). The median FU is 9 y (1-53 y). Median age at last FU is 13 y (0-61 y). 890 patients (86,5%) have a severe phenotype (SS or Sβ°) and 52% are female. Among them, 561 (55%) are born in Belgium of whom 379 (68%) are diagnosed by neonatal screening. In the absence of neonatal screening, median age at diagnosis is 1 year (range 0-18). 131 patients have been transplanted (126 successfully), 68 HSCT were performed before 2005. At last FU, 646 patients (76%) received at least 1 disease-modifying treatment (DMT) : 598 patients receive HU, 65 are chronically transfused, 8 participate in a study with crizanlizumab. The prescribed HU dose is known for 572 patients. 179 patients (31.3%) receive less than 20 mg/kg/day, 217 (37.9%) less than 25 mg/kg/day, 148 (25.9%) less than 30 mg/kg/day and 28 (4.9%) were prescribed more than 30 mg/kg/day. The majority of HSCT were performed in two centers (68 and 59, respectively). Median age at HSCT was significantly different between both centers (8y (2-15) versus 5y (0-19); p=0.002) (figure 1). Variables associated with a lower age at HSCT are detailed in table 1. In a linear multivariate regression model, birth in Belgium (p=0.002), no treatment with HU (p=0.009) and shorter duration of FU (p Among not transplanted patients, the proportion of those receiving HU is different between centers (50% to 91%; p=0.050). The median age at which HU was initiated was also significantly different between centers (4y to 21y; p Twenty-seven (2.6%) patients died which accounted for a mortality rate of 0.24/100 patients-years (PY) which increases significantly with age (0.18/100PY 40 years; p=0.001). Conclusions: BSR has an excellent registration activity from participating centers and represents a reliable tool to evaluate the Belgian SCD population. Mortality remains low with a significant trend to increase with age. Regarding treatment practices, the age at start of HU is significantly different between centers as the approach to further HU treatment, evaluated by ΔMCV. A higher dose of HU resulted in a higher ΔMCV. However, the policy to increase HU to maximal tolerated dose seems not implemented in most centers, as 2/3 of the patients are prescribed less than 25 mg/kg/day. Being born in Belgium and no treatment with HU are associated with younger age at HSCT. Nevertheless since 2005, almost all patients were treated with HU prior HSCT, reflecting the wider implementation of HU in SCD patients living in Belgium. Figure 1 Figure 1. Disclosures Benghiat: Novartis: Consultancy; BMS: Consultancy. Labarque: Bayer: Consultancy; Sobi: Consultancy; NovoNordisk: Consultancy; Octapharma: Consultancy; Novartis: Consultancy.

Published
2021

8. Childhood-onset autoimmune cytopenia as the presenting feature of biallelic ACP5 mutations

Author

Sacri , Anne-Sylvia, Bruwier , Annelyse, Baujat , Genevieve, Breton, Sylvain, Blanche , Stéphane, Briggs, Tracy, and Bader-Meunier , Brigitte

Subjects
hemic and lymphatic diseases
Abstract

Childhood-onset chronic and refractory cytopenias are rare and may be genetic in etiology.We report three pediatric cases of severe autoimmune thrombocytopenia or anemia associated with growth retardation and spastic diplegia with intracranial calcification. The identification of platyspondyly and metaphyseal lesions suggested a potential diagnosis of spondyloenchondrodysplasia (SPENCD), which was confirmed with the identification of biallelic ACP5 mutations.Two patients demonstrated elevated serum interferon alpha levels. Our report highlights ACP5-associated disease as a cause of childhood-onset autoimmune cytopenia, particularly combined with growth retardation and/or spasticity. Furthermore, a role for type I interferon in the pathogenesis of autoimmune cytopenias is supported.

Published
2016

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