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1. Hypomorphic RAG deficiency: impact of disease burden on survival and thymic recovery argues for early diagnosis and HSCT

Author

Schuetz, C., Gerke, J., Ege, M., Walter, J., Kusters, M., Worth, A., Kanakry, J. A., Dimitrova, D., Wolska-Kuśnierz, B., Chen, K., Unal, E., Karakukcu, M., Pashchenko, O., Leiding, J., Kawai, T., Amrolia, P. J., Berghuis, D., Buechner, J., Buchbinder, D., Cowan, M. J., Gennery, A. R., Güngör, T., Heimall, J., Miano, M., Meyts, I., Morris, E. C., Rivière, J., Sharapova, S. O., Shaw, P. J., Slatter, M., Honig, M., Veys, P., Fischer, A., Cavazzana, M., Moshous, D., Schulz, A., Albert, M. H., Puck, J. M., Lankester, A. C., Notarangelo, L. D., and Neven, B.

Published
2023
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2. Wiskott-Aldrich syndrome: a study of 577 patients defines the genotype as a biomarker for disease severity and survival

Author

Vallée, T, Glasmacher, J, Buchner, H, Arkwright, P, Behrends, U, Bondarenko, A, Browning, M, Buchbinder, D, Cattoni, A, Chernyshova, L, Ciznar, P, Cole, T, Czogala, W, Dueckers, G, Edgar, J, Erbey, F, Fasth, A, Ferrua, F, Formankova, R, Gambineri, E, Gennery, A, Goldman, F, Gonzalez-Granado, L, Heilmann, C, Heiskanen-Kosma, T, Juntti, H, Kainulainen, L, Kanegane, H, Karaca, N, Sebnem Kilic, S, Klein, C, Koltan, S, Kondratenko, I, Meyts, I, Nasrullayeva, G, Notarangelo, L, Pasic, S, Pellier, I, Pignata, C, Misbah, S, Schulz, A, Segundo, G, Shcherbina, A, Slatter, M, Sokolic, R, Soler-Palacin, P, Stepensky, P, van Montfrans, J, Ryhänen, S, Wolska-Kuśnierz, B, Ziegler, J, Zhao, X, Aiuti, A, Ochs, H, Albert, M, Vallée, Tanja C, Glasmacher, Jannik S, Buchner, Hannes, Arkwright, Peter D, Behrends, Uta, Bondarenko, Anastasia, Browning, Michael J, Buchbinder, David K, Cattoni, Alessandro, Chernyshova, Liudmyla, Ciznar, Peter, Cole, Theresa, Czogala, Wojciech, Dueckers, Gregor, Edgar, John David M, Erbey, Fatih, Fasth, Anders, Ferrua, Francesca, Formankova, Renata, Gambineri, Eleonora, Gennery, Andrew R, Goldman, Frederick D, Gonzalez-Granado, Luis Ignacio, Heilmann, Carsten, Heiskanen-Kosma, Tarja, Juntti, Hanna, Kainulainen, Leena, Kanegane, Hirokazu, Karaca, Neslihan E., Sebnem Kilic, Sara, Klein, Christoph, Koltan, Sylwia, Kondratenko, Irina, Meyts, Isabelle, Nasrullayeva, Gulnara M, Notarangelo, Lucia Dora, Pasic, Srdjan, Pellier, Isabelle, Pignata, Claudio, Misbah, Siraj Ahmed, Schulz, Ansgar S, Segundo, Gesmar RS, Shcherbina, Anna, Slatter, Mary A, Sokolic, Robert, Soler-Palacin, Pere, Stepensky, Polina, van Montfrans, Joris M., Ryhänen, Samppa, Wolska-Kuśnierz, Beata, Ziegler, John B, Zhao, Xiaodong, Aiuti, Alessandro, Ochs, Hans D, Albert, Michael H, Vallée, T, Glasmacher, J, Buchner, H, Arkwright, P, Behrends, U, Bondarenko, A, Browning, M, Buchbinder, D, Cattoni, A, Chernyshova, L, Ciznar, P, Cole, T, Czogala, W, Dueckers, G, Edgar, J, Erbey, F, Fasth, A, Ferrua, F, Formankova, R, Gambineri, E, Gennery, A, Goldman, F, Gonzalez-Granado, L, Heilmann, C, Heiskanen-Kosma, T, Juntti, H, Kainulainen, L, Kanegane, H, Karaca, N, Sebnem Kilic, S, Klein, C, Koltan, S, Kondratenko, I, Meyts, I, Nasrullayeva, G, Notarangelo, L, Pasic, S, Pellier, I, Pignata, C, Misbah, S, Schulz, A, Segundo, G, Shcherbina, A, Slatter, M, Sokolic, R, Soler-Palacin, P, Stepensky, P, van Montfrans, J, Ryhänen, S, Wolska-Kuśnierz, B, Ziegler, J, Zhao, X, Aiuti, A, Ochs, H, Albert, M, Vallée, Tanja C, Glasmacher, Jannik S, Buchner, Hannes, Arkwright, Peter D, Behrends, Uta, Bondarenko, Anastasia, Browning, Michael J, Buchbinder, David K, Cattoni, Alessandro, Chernyshova, Liudmyla, Ciznar, Peter, Cole, Theresa, Czogala, Wojciech, Dueckers, Gregor, Edgar, John David M, Erbey, Fatih, Fasth, Anders, Ferrua, Francesca, Formankova, Renata, Gambineri, Eleonora, Gennery, Andrew R, Goldman, Frederick D, Gonzalez-Granado, Luis Ignacio, Heilmann, Carsten, Heiskanen-Kosma, Tarja, Juntti, Hanna, Kainulainen, Leena, Kanegane, Hirokazu, Karaca, Neslihan E., Sebnem Kilic, Sara, Klein, Christoph, Koltan, Sylwia, Kondratenko, Irina, Meyts, Isabelle, Nasrullayeva, Gulnara M, Notarangelo, Lucia Dora, Pasic, Srdjan, Pellier, Isabelle, Pignata, Claudio, Misbah, Siraj Ahmed, Schulz, Ansgar S, Segundo, Gesmar RS, Shcherbina, Anna, Slatter, Mary A, Sokolic, Robert, Soler-Palacin, Pere, Stepensky, Polina, van Montfrans, Joris M., Ryhänen, Samppa, Wolska-Kuśnierz, Beata, Ziegler, John B, Zhao, Xiaodong, Aiuti, Alessandro, Ochs, Hans D, and Albert, Michael H

Abstract

Wiskott-Aldrich syndrome (WAS) is a multifaceted monogenic disorder with a broad disease spectrum and variable disease severity and a variety of treatment options including allogeneic hematopoietic stem cell transplantation (HSCT) and gene therapy (GT). No reliable biomarker exists to predict disease course and outcome for individual patients. A total of 577 patients with a WAS variant from 26 countries and a median follow-up of 8.9 years (range, 0.3-71.1), totaling 6118 patient-years, were included in this international retrospective study. Overall survival (OS) of the cohort (censored at HSCT or GT) was 82% (95% confidence interval, 78-87) at age 15 years and 70% (61-80) at 30 years. The type of variant was predictive of outcome: patients with a missense variant in exons 1 or 2 or with the intronic hot spot variant c.559+5G>A (class I variants) had a 15-year OS of 93% (89-98) and a 30-year OS of 91% (86-97), compared with 71% (62-81) and 48% (34-68) in patients with any other variant (class II; P < .0001). The cumulative incidence rates of disease-related complications such as severe bleeding (P = .007), life-threatening infection (P < .0001), and autoimmunity (P = .004) occurred significantly later in patients with a class I variant. The cumulative incidence of malignancy (P = .6) was not different between classes I and II. It confirms the spectrum of disease severity and quantifies the risk for specific disease-related complications. The class of the variant is a biomarker to predict the outcome for patients with WAS.

Published
2024

7. Hematopoietic stem cell transplantation for Wiskott-Aldrich syndrome: an EBMT Inborn Errors Working Party analysis

Author

Albert, M. H., Slatter, M. A., Gennery, A. R., Gungor, T., Bakunina, K., Markovitch, B., Hazelaar, S., Sirait, T., Courteille, V., Aiuti, A., Aleinikova, O. V., Balashov, D., Bernardo, M. E., Bodova, I., Bruno, B., Cavazzana, M., Chiesa, R., Fischer, A., Hauck, F., Ifversen, M., Kalwak, K., Klein, C., Kulagin, A., Kupesiz, A., Kuskonmaz, B., Lindemans, C. A., Locatelli, Franco, Lum, S. H., Maschan, A., Meisel, R., Moshous, D., Porta, F., Sauer, M. G., Sedlacek, P., Schulz, A., Suarez, F., Vallee, T. C., Winiarski, J. H., Zecca, M., Neven, B., Veys, P., Lankester, A. C., Locatelli F. (ORCID:0000-0002-7976-3654), Albert, M. H., Slatter, M. A., Gennery, A. R., Gungor, T., Bakunina, K., Markovitch, B., Hazelaar, S., Sirait, T., Courteille, V., Aiuti, A., Aleinikova, O. V., Balashov, D., Bernardo, M. E., Bodova, I., Bruno, B., Cavazzana, M., Chiesa, R., Fischer, A., Hauck, F., Ifversen, M., Kalwak, K., Klein, C., Kulagin, A., Kupesiz, A., Kuskonmaz, B., Lindemans, C. A., Locatelli, Franco, Lum, S. H., Maschan, A., Meisel, R., Moshous, D., Porta, F., Sauer, M. G., Sedlacek, P., Schulz, A., Suarez, F., Vallee, T. C., Winiarski, J. H., Zecca, M., Neven, B., Veys, P., Lankester, A. C., and Locatelli F. (ORCID:0000-0002-7976-3654)

Abstract

Allogeneic hematopoietic stem cell transplantation (HSCT) is a potentially curative treatment for patients affected by Wiskott-Aldrich syndrome (WAS). Reported HSCT outcomes have improved over time with respect to overall survival, but some studies have identified older age and HSCT from alternative donors as risk factors predicting poorer outcome. We analyzed 197 patients undergoing transplant at European Society for Blood and Marrow Transplantation centers between 2006 and 2017 who received conditioning as recommended by the Inborn Errors Working Party (IEWP): either busulfan (n = 103) or treosulfan (n = 94) combined with fludarabine ± thiotepa. After a median follow-up post-HSCT of 44.9 months, 176 patients were alive, resulting in a 3-year overall survival of 88.7% and chronic graft-versus-host disease (GVHD)-free survival (events include death, graft failure, and severe chronic GVHD) of 81.7%. Overall survival and chronic GVHD-free survival were not significantly affected by conditioning regimen (busulfan- vs treosulfan-based), donor type (matched sibling donor/matched family donor vs matched unrelated donor/mismatched unrelated donor vs mismatched family donor), or period of HSCT (2006-2013 vs 2014-2017). Patients aged <5 years at HSCT had a significantly better overall survival. The overall cumulative incidences of grade III to IV acute GVHD and extensive/moderate/severe chronic GVHD were 6.6% and 2.1%, respectively. Patients receiving treosulfan-based conditioning had a higher incidence of graft failure and mixed donor chimerism and more frequently underwent secondary procedures (second HSCT, unconditioned stem cell boost, donor lymphocyte infusion, or splenectomy). In summary, HSCT for WAS with conditioning regimens currently recommended by IEWP results in excellent survival and low rates of GVHD, regardless of donor or stem cell source, but age ≥5 years remains a risk factor for overall survival.

Published
2022

8. Hematopoietic stem cell transplantation for adolescents and adults with inborn errors of immunity: an EBMT IEWP study

Author

Albert, M. H., Sirait, T., Eikema, D. -J., Bakunina, K., Wehr, C., Suarez, F., Fox, M. L., Mahlaoui, N., Gennery, A. R., Lankester, A. C., Beier, R., Bernardo, M. E., Bigley, V., Lindemans, C. A., Burns, S. O., Carpenter, B., Dybko, J., Gungor, T., Hauck, F., Lum, S. H., Balashov, D., Meisel, R., Moshous, D., Schulz, A., Speckmann, C., Slatter, M. A., Strahm, B., Uckan-Cetinkaya, D., Meyts, I., Vallee, T. C., Wynn, R., Neven, B., Morris, E. C., Aiuti, A., Maschan, A., Aljurf, M., Gedde-Dahl, T., Gurman, G., Bordon, V., Krivan, G., Locatelli, Franco, Porta, F., Valcarcel, D., Beguin, Y., Faraci, M., Kroger, N., Kulagin, A., Shaw, P. J., Veelken, J. H., Diaz de Heredia, C., Fagioli, F., Felber, M., Gruhn, B., Holter, W., Rossig, C., Sedlacek, P., Apperley, J., Ayas, M., Bodova, I., Choi, G., Cornelissen, J. J., Sirvent, A., Khan, A., Kupesiz, A., Lenhoff, S., Ozdogu, H., von der Weid, N., Rovira, M., Schots, R., Vinh, D. C., Locatelli F. (ORCID:0000-0002-7976-3654), Albert, M. H., Sirait, T., Eikema, D. -J., Bakunina, K., Wehr, C., Suarez, F., Fox, M. L., Mahlaoui, N., Gennery, A. R., Lankester, A. C., Beier, R., Bernardo, M. E., Bigley, V., Lindemans, C. A., Burns, S. O., Carpenter, B., Dybko, J., Gungor, T., Hauck, F., Lum, S. H., Balashov, D., Meisel, R., Moshous, D., Schulz, A., Speckmann, C., Slatter, M. A., Strahm, B., Uckan-Cetinkaya, D., Meyts, I., Vallee, T. C., Wynn, R., Neven, B., Morris, E. C., Aiuti, A., Maschan, A., Aljurf, M., Gedde-Dahl, T., Gurman, G., Bordon, V., Krivan, G., Locatelli, Franco, Porta, F., Valcarcel, D., Beguin, Y., Faraci, M., Kroger, N., Kulagin, A., Shaw, P. J., Veelken, J. H., Diaz de Heredia, C., Fagioli, F., Felber, M., Gruhn, B., Holter, W., Rossig, C., Sedlacek, P., Apperley, J., Ayas, M., Bodova, I., Choi, G., Cornelissen, J. J., Sirvent, A., Khan, A., Kupesiz, A., Lenhoff, S., Ozdogu, H., von der Weid, N., Rovira, M., Schots, R., Vinh, D. C., and Locatelli F. (ORCID:0000-0002-7976-3654)

Abstract

Allogeneic hematopoietic stem cell transplantation (HSCT) is the gold standard curative therapy for infants and children with many inborn errors of immunity (IEI), but adolescents and adults with IEI are rarely referred for transplant. Lack of published HSCT outcome data outside small, single-center studies and perceived high risk of transplant-related mortality have delayed the adoption of HSCT for IEI patients presenting or developing significant organ damage later in life. This large retrospective, multicenter HSCT outcome study reports on 329 IEI patients (age range, 15-62.5 years at HSCT). Patients underwent first HSCT between 2000 and 2019. Primary endpoints were overall survival (OS) and event-free survival (EFS). We also evaluated the influence of IEI-subgroup and IEI-specific risk factors at HSCT, including infections, bronchiectasis, colitis, malignancy, inflammatory lung disease, splenectomy, hepatic dysfunction, and systemic immunosuppression. At a median follow-up of 44.3 months, the estimated OS at 1 and 5 years post-HSCT for all patients was 78% and 71%, and EFS was 65% and 62%, respectively, with low rates of severe acute (8%) or extensive chronic (7%) graft-versus-host disease. On univariate analysis, OS and EFS were inferior in patients with primary antibody deficiency, bronchiectasis, prior splenectomy, hepatic comorbidity, and higher hematopoietic cell transplant comorbidity index scores. On multivariable analysis, EFS was inferior in those with a higher number of IEI-associated complications. Neither age nor donor had a significant effect on OS or EFS. We have identified age-independent risk factors for adverse outcome, providing much needed evidence to identify which patients are most likely to benefit from HSCT.

Published
2022

11. Allogeneic hematopoietic stem cell transplantation in leukocyte adhesion deficiency type I and III

Author

Bakhtiar, S., Salzmann-Manrique, E., Blok, H.J., Eikema, D.J., Hazelaar, S., Ayas, M., Toren, A., Goldstein, G., Moshous, D., Locatelli, F., Merli, P., Michel, G., Ozturk, G., Schulz, A., Heilmann, C., Ifversen, M., Wynn, R.F., Aleinikova, O., Bertrand, Y., Tbakhi, A., Veys, P., Karakukcu, M., Kupesiz, A., Ghavamzadeh, A., Handgretinger, R., Unal, E., Perez-Martinez, A., Gokce, M., Porta, F., Aksu, T., Karasu, G., Badell, I., Ljungman, P., Skorobogatova, E., Yesilipek, A., Zuckerman, T., Bredius, R.R.G., Stepensky, P., Shadur, B., Slatter, M., Gennery, A.R., Albert, M.H., Bader, P., Lankester, A., Pediat Dis Working Party, and Inborn Errors Working Party EBMT

Subjects
surgical procedures, operative
Abstract

Type I and III leukocyte adhesion deficiencies (LADs) are primary immunodeficiency disorders resulting in early death due to infections and additional bleeding tendency in LAD-III. The curative treatment of LAD-I and LAD-III is allogeneic hematopoietic stem cell transplantation (allo-HSCT). In this retrospective multicenter study, data were collected using the European Society for Blood and Marrow Transplantation registry; we analyzed data from 84 LAD patients from 33 centers, all receiving an allo-HSCT from 2007 to 2017. The 3-year overall survival estimate (95% confidence interval [CI]) was 83% (74-92) for the entire cohort: 84% (75-94) and 75% (50-100) for LAD-I and LAD-III, respectively. We observed cumulative incidences (95% CI) of graft failure (GF) at 3 years of 17% (9%-26%) and grade II to IV acute graft-versus-host disease (aGVHD) at 100 days of 24% (15%-34%). The estimate (95% CI) at 3 years for GF- and GVHD-II to IV-free survival as event-free survival (EFS) was 56% (46-69) for the entire cohort; 58% (46-72) and 56% (23-88) for LAD-I and LAD-III, respectively. Grade II to IV acute GVHD was a relevant risk factor for death (hazard ratio 3.6; 95% CI 1.4-9.1; P = .006). Patients' age at transplant >= 13 months, transplantation from a nonsibling donor, and any serological cytomegalovirus mismatch in donor-recipient pairs were significantly associated with severe acute GVHD and inferior EFS. The choice of busulfan- or treosulfan-based conditioning, type of GVHD prophylaxis, and serotherapy did not impact overall survival, EFS, or aGVHD. An intrinsic inflammatory component of LAD may contribute to inflammatory complications during allo-HSCT, thus providing the rationale for considering anti-inflammatory therapy pretreatment.

Published
2021

12. Simple Measurement of IgA Predicts Immunity and Mortality in Ataxia-Telangiectasia

Author

Zielen, S., Duecker, R.P., Woelke, S., Donath, H., Bakhtiar, S., Buecker, A., Kreyenberg, H., Huenecke, S., Bader, P., Mahlaoui, N., Ehl, S., El-Helou, S.M., Pietrucha, B., Plebani, A., Flier, M. van der, Aerde, K.J. van, Kilic, S.S., Reda, S.M., Kostyuchenko, L., McDermott, E., Galal, N., Pignata, C., Pérez, J.L.S., Laws, H.J., Niehues, T., Kutukculer, N., Seidel, M.G., Marques, L., Ciznar, P., Edgar, J.D.M., Soler-Palacín, P., Bernuth, H. von, Krueger, R., Meyts, I., Baumann, U., Kanariou, M., Grimbacher, B., Hauck, F., Graf, D., Granado, L.I.G., Prader, S., Reisli, I., Slatter, M., Rodríguez-Gallego, C., Arkwright, P.D., Bethune, C., Deripapa, E., Sharapova, S.O., Lehmberg, K., Davies, E.G., Schuetz, C., Kindle, G., Schubert, R., Zielen, S., Duecker, R.P., Woelke, S., Donath, H., Bakhtiar, S., Buecker, A., Kreyenberg, H., Huenecke, S., Bader, P., Mahlaoui, N., Ehl, S., El-Helou, S.M., Pietrucha, B., Plebani, A., Flier, M. van der, Aerde, K.J. van, Kilic, S.S., Reda, S.M., Kostyuchenko, L., McDermott, E., Galal, N., Pignata, C., Pérez, J.L.S., Laws, H.J., Niehues, T., Kutukculer, N., Seidel, M.G., Marques, L., Ciznar, P., Edgar, J.D.M., Soler-Palacín, P., Bernuth, H. von, Krueger, R., Meyts, I., Baumann, U., Kanariou, M., Grimbacher, B., Hauck, F., Graf, D., Granado, L.I.G., Prader, S., Reisli, I., Slatter, M., Rodríguez-Gallego, C., Arkwright, P.D., Bethune, C., Deripapa, E., Sharapova, S.O., Lehmberg, K., Davies, E.G., Schuetz, C., Kindle, G., and Schubert, R.

Abstract

Item does not contain fulltext, Patients with ataxia-telangiectasia (A-T) suffer from progressive cerebellar ataxia, immunodeficiency, respiratory failure, and cancer susceptibility. From a clinical point of view, A-T patients with IgA deficiency show more symptoms and may have a poorer prognosis. In this study, we analyzed mortality and immunity data of 659 A-T patients with regard to IgA deficiency collected from the European Society for Immunodeficiencies (ESID) registry and from 66 patients with classical A-T who attended at the Frankfurt Goethe-University between 2012 and 2018. We studied peripheral B- and T-cell subsets and T-cell repertoire of the Frankfurt cohort and survival rates of all A-T patients in the ESID registry. Patients with A-T have significant alterations in their lymphocyte phenotypes. All subsets (CD3, CD4, CD8, CD19, CD4/CD45RA, and CD8/CD45RA) were significantly diminished compared to standard values. Patients with IgA deficiency (n = 35) had significantly lower lymphocyte counts compared to A-T patients without IgA deficiency (n = 31) due to a further decrease of naïve CD4 T-cells, central memory CD4 cells, and regulatory T-cells. Although both patient groups showed affected TCR-ß repertoires compared to controls, no differences could be detected between patients with and without IgA deficiency. Overall survival of patients with IgA deficiency was significantly diminished. For the first time, our data show that patients with IgA deficiency have significantly lower lymphocyte counts and subsets, which are accompanied with reduced survival, compared to A-T patients without IgA deficiency. IgA, a simple surrogate marker, is indicating the poorest prognosis for classical A-T patients. Both non-interventional clinical trials were registered at clinicaltrials.gov 2012 (Susceptibility to infections in ataxia-telangiectasia; NCT02345135) and 2017 (Susceptibility to Infections, tumor risk and liver disease in patients with ataxia-telangiectasia; NCT03357978).

Published
2021

24. The United Kingdom Primary Immune Deficiency (UKPID) Registry: report of the first 4 yearsʼ activity 2008-2012

Author

Edgar, J. D. M., Buckland, M., Guzman, D., Conlon, N. P., Knerr, V., Bangs, C., Reiser, V., Panahloo, Z., Workman, S., Slatter, M., Gennery, A. R., Davies, E. G., Allwood, Z., Arkwright, P. D., Helbert, M., Longhurst, H. J., Grigoriadou, S., Devlin, L. A., Huissoon, A., Krishna, M. T., Hackett, S., Kumararatne, D. S., Condliffe, A. M., Baxendale, H., Henderson, K., Bethune, C., Symons, C., Wood, P., Ford, K., Patel, S., Jain, R., Jolles, S., El-Shanawany, T., Alachkar, H., Herwadkar, A., Sargur, R., Shrimpton, A., Hayman, G., Abuzakouk, M., Spickett, G., Darroch, C. J., Paulus, S., Marshall, S. E., McDermott, E. M., Heath, P. T., Herriot, R., Noorani, S., Turner, M., Khan, S., and Grimbacher, B.

Published
2014
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27. Hematopoietic cell transplantation in chronic granulomatous disease: a study of 712 children and adults

Author

Chiesa, R., Wang, J., Blok, H. -J., Hazelaar, S., Neven, B., Moshous, D., Schulz, A., Hoenig, M., Hauck, F., Seraihy, A. A., Gozdzik, J., Ljungman, P., Lindemans, C. A., Fernandes, J. F., Kalwak, K., Strahm, B., Schanz, U., Sedlacek, P., Sykora, K. -W., Aksoylar, S., Locatelli, Franco, Stepensky, P., Wynn, R., Lum, S. H., Zecca, M., Porta, F., Taskinen, M., Gibson, B., Matthes, S., Karakukcu, M., Hauri-Hohl, M., Veys, P., Gennery, A. R., Lucchini, G., Felber, M., Albert, M. H., Balashov, D., Lankester, A., Gungor, T., Slatter, M. A., Locatelli F. (ORCID:0000-0002-7976-3654), Chiesa, R., Wang, J., Blok, H. -J., Hazelaar, S., Neven, B., Moshous, D., Schulz, A., Hoenig, M., Hauck, F., Seraihy, A. A., Gozdzik, J., Ljungman, P., Lindemans, C. A., Fernandes, J. F., Kalwak, K., Strahm, B., Schanz, U., Sedlacek, P., Sykora, K. -W., Aksoylar, S., Locatelli, Franco, Stepensky, P., Wynn, R., Lum, S. H., Zecca, M., Porta, F., Taskinen, M., Gibson, B., Matthes, S., Karakukcu, M., Hauri-Hohl, M., Veys, P., Gennery, A. R., Lucchini, G., Felber, M., Albert, M. H., Balashov, D., Lankester, A., Gungor, T., Slatter, M. A., and Locatelli F. (ORCID:0000-0002-7976-3654)

Abstract

Chronic granulomatous disease (CGD) is a primary immunodeficiency resulting in life-threatening infections and inflammatory complications. Allogeneic hematopoietic cell transplantation (allo-HCT) can cure the disease, but the indication to transplant remains controversial. We performed a retrospective multicenter study of 712 patients with CGD who underwent allo-HCT transplantation from March 1993 through December 2018. We studied 635 children (aged <18 years) and 77 adults. Median follow-up was 45 months. Median age at transplantation was 7 years (range, 0.1-48.6). Kaplan-Meier estimates of overall survival (OS) and event-free survival (EFS) at 3 years were 85.7% and 75.8%, respectively. In multivariate analysis, older age was associated with reduced survival and increased chronic graft-versus-host disease. Nevertheless, OS and EFS at 3 years for patients ‡18 years were 76% and 69%, respectively. Use of 1-antigen-mismatched donors was associated with reduced OS and EFS . No significant difference was found in OS, but a significantly reduced EFS was noted in the small group of patients who received a transplant from a donor with a >1 antigen mismatch. Choice of conditioning regimen did not influence OS or EFS. In summary, we report an excellent outcome after allo-HCT in CGD, with low incidence of graft failure and mortality in all ages. Older patients and recipients of 1-antigen-mismatched grafts had a less favorable outcome. Transplantation should be strongly considered at a younger age and particularly in the presence of a well-matched donor.

Published
2020

44. Clinical spectrum of immunodeficiency, centromeric instability and facial dysmorphism (ICF syndrome)

Author

Hagleitner, M M, Lankester, A, Maraschio, P, Hultén, M, Fryns, J P, Schuetz, C, Gimelli, G, Davies, E G, Gennery, A, Belohradsky, B H, de Groot, R, Gerritsen, E J A, Mattina, T, Howard, P J, Fasth, A, Reisli, I, Furthner, D, Slatter, M A, Cant, A J, Cazzola, G, van Dijken, P J, van Deuren, M, de Greef, J C, van der Maarel, S M, and Weemaes, C M R

Published
2008
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