Research

2023

Wolf, C., Fischer, H., Kühl, J-S., Koss, S., Abou Jamra, R., Starke, S., Schultz, J., Ehl, S., Neumann, K., Schuetz, C.,
Huber, R., Hornung, V., & Lee-Kirsch, M. A. (2023). Hemophagocytic lymphohistiocytosis-like hyperinflammation due to a de novo mutation in DPP9. Journal of Allergy and Clinical Immunology, 152(5), 1336-1344.e5.
https://doi.org/10.1016/j.jaci.2023.07.013

Le Voyer, T., Parent, A.V., Liu, X., ..., Schuetz C. ... et al. Autoantibodies against type I IFNs in humans with alternative NF-κB pathway deficiency. Nature623, 803–813 (2023). https://doi.org/10.1038/s41586-023-06717-x

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., … Neven, B. (2023). Hypomorphic RAG deficiency: Impact of disease burden on survival and thymic recovery argues for early diagnosis and HSCT. Blood, 141(7), 713–724. https://doi.org/10.1182/blood.2022017667

Körholz, J., Gabrielyan, A., Sczakiel, H. L., Schulze, L., Rejzek, M., Laass, M. W., Leuchten, N., Tiebel, O., Aust, D., Conrad, K., Röber, N., Jacobsen, E.-M., Ehmke, N., Berner, R., Lucas, N., Lee-Kirsch, M. A., Wiedemuth, R., Roesler, J., Roers, A., … Schuetz, C. (2023). Novel mutation and expanding phenotype in IRF2BP2 deficiency. Rheumatology (Oxford, England), 62(4), 1699–1705. https://doi.org/10.1093/rheumatology/keac575

Carmody LC, Gargano MA, Toro S, Vasilevsky NA, Schuetz C, Robinson PN, et al.. The Medical Action Ontology: A Tool for Annotating and Analyzing Treatments and Clinical Management of Human Disease. medRxiv [Preprint]. 2023 Jul 13:2023.07.13.23292612. doi: 10.1101/2023.07.13.23292612. Update in: Med. 2023 Nov 9;: PMID: 37503136; PMCID: PMC10370244.

Maccari, M. E., Schneider, P., Smulski, C. R., Meinhardt, A., Pinto, F., Gonzalez-Granado, L. I., Schuetz, C., Sica, M. P., Gross, M., Fuchs, I., Kury, P., Heeg, M., Vocat, T., Willen, L., Thomas, C., Hühn, R., Magerus, A., Lorenz, M., Schwarz, K., … Rensing-Ehl, A. (2023). Revisiting autoimmune lymphoproliferative syndrome caused by Fas ligand mutations. The Journal of Allergy and Clinical Immunology, 151(5), 1391-1401.e7. https://doi.org/10.1016/j.jaci.2022.11.028

Fischer M, Olbrich P, Hadjadj J, Aumann V, Körholz J,  Schuetz C, Speckmann C., et al. JAK inhibitor treatment for inborn errors of JAK/STAT signaling: An ESID/EBMT-IEWP retrospective study. J Allergy Clin Immunol. 2024 Jan;153(1):275-286.e18. doi: 10.1016/j.jaci.2023.10.018. Epub 2023 Nov 5. PMID: 37935260.

Groff, E., Orzechowski, M., Schuetz, C., & Steger, F. (2022). Ethical Aspects of Personalized Research and Management of Systemic Inflammatory Response Syndrome (SIRS) in Children. International Journal of Environmental Research and Public Health, 20(1), 470. https://doi.org/10.3390/ijerph20010470

Heinen, A., Hammermann, J., Smitka, M., Lee-Kirsch, M. A., Berner, R., Schuetz, C., & von der Hagen, M. (2023). Neue Therapien – neue Zukunft? Ein Blick auf die Pädiatrie und darüber hinaus. Pädiatrische Praxis : Zeitschrift für Kinder- und Jugendmedizin in Klinik und Praxis, 1-17.

Knopf, N-C., Speckmann, C., & Schütz, C. (2023). Angeborene Störungen der Immunität. Neonatologie Scan, 12(03), 211-227. https://doi.org/10.1055/a-1687-4068.

Knopf, N.C., Stamos, K., Höger, P.H. et al. Säugling mit multiplen Hämatomen/Purpura-ähnlichen Läsionen. Monatsschr Kinderheilkd (2023). https://doi.org/10.1007/s00112-023-01713-x

Lalia, J. K., Schild, R., Lütgehetmann, M., Dunay, G. A., Kallinich, T., Kobbe, R., Massoud, M., Oh, J., Pietzsch, L.,
Schulze-Sturm, U., Schuetz, C., Sibbertsen, F., Speth, F., Thieme, S., Witkowski, M., Berner, R., Muntau, A. C., Gersting, S. W., Toepfner, N., ... Paul, K. (2023). Reduced Humoral and Cellular Immune Response to Primary COVID-19 mRNA Vaccination in Kidney Transplanted Children Aged 5–11 Years. Viruses, 15(7), Artikel 1553.
https://doi.org/10.3390/v15071553

Orchestra Working Group, COVID Clinicians, & Schuetz, C. (2023). Rare predicted loss-of-function variants of type I IFN immunity genes are associated with life-threatening COVID-19. Genome medicine, 15(2023), 1-25. Artikel 22. https://doi.org/10.1186/s13073-023-01173-8

Rao, V. K., Kulm, E., Šedivá, A., Plebani, A., Schuetz, C., Shcherbina, A., Dalm, V. A., Trizzino, A., Zharankova, Y.,
Webster, S., Orpia, A., Körholz, J., Lougaris, V., Rodina, Y., Radford, K., Bradt, J., Relan, A., Holland, S. M., Lenardo, M. J., & Uzel, G. (2023). Interim analysis: Open-label extension study of leniolisib for patients with APDS. Journal of allergy and clinical immunology. https://doi.org/10.1016/j.jaci.2023.09.032

Rao, V. K., Webster, S., Šedivá, A., Plebani, A., Schuetz, C., Shcherbina, A., Conlon, N., Coulter, T., Dalm, V. A., Trizzino, A., Zharankova, Y., Kulm, E., Körholz, J., Lougaris, V., Rodina, Y., Radford, K., Bradt, J., Kucher, K., Relan, A., … Uzel, G. (2023). A randomized, placebo-controlled phase 3 trial of the PI3Kδ inhibitor leniolisib for activated PI3Kδ syndrome. Blood, 141(9), 971–983. https://doi.org/10.1182/blood.2022018546

Speckmann, C., Nennstiel, U., Hönig, M., Albert, M. H., Ghosh, S., Schuetz, C., Brockow, I., Hörster, F., Niehues, T., Ehl, S., Wahn, V., Borte, S., Lehmberg, K., Baumann, U., Beier, R., Krüger, R., Bakhtiar, S., Kuehl, J.-S., Klemann, C., Schuetz, C., … Hauck, F. (2023). Prospective Newborn Screening for SCID in Germany: A First Analysis by the Pediatric Immunology Working Group (API). Journal of Clinical Immunology, 1–14. https://doi.org/10.1007/s10875-023-01450-6

Staudacher, O., Klein, J., Thee, S., Ullrich, J., Wahn, V., Unterwalder, N., Kölsch, U., Lankes, E., Stittrich, A., Dedieu, C., Dinges, S., Völler, M., Schuetz, C., Schulte, J., Boztug, K., Meisel, C., Kuehl, J. S., Krüger, R., Blankenstein, O., & von Bernuth, H. (2023). Screening Newborns for Low T Cell Receptor Excision Circles (TRECs) Fails to Detect
Immunodeficiency, Centromeric Instability, and Facial Anomalies Syndrome. Journal of Allergy and Clinical Immunology: In Practice, 11(9), 2872-2883. https://doi.org/10.1016/j.jaip.2023.06.006

Tsilifis, C., Torppa, T., Williams, E. J., Albert, M. H., Hauck, F., Soncini, E., Kang, E., Malech, H., Schuetz, C., von
Bernuth, H., Slatter, M. A., & Gennery, A. R. (2023). Allogeneic HSCT for Symptomatic Female X-linked Chronic
Granulomatous Disease Carriers. Journal of clinical immunology, 43(8), 1964-1973. https://doi.org/10.1007/s10875-023-01570-z

Vanselow, S., Hanitsch, L., Hauck, F., Körholz, J., Maccari, M. E., Meinhardt, A., Sogkas, G., Schuetz, C., & Grimbacher, B. (2023). Future Directions in the Diagnosis and Treatment of APDS and IEI: a Survey of German IEI Centers. Frontiers in immunology, 14, Artikel 1279652. https://doi.org/10.3389/fimmu.2023.1279652

Vanselow, S., Wahn, V., & Schuetz, C. (2023). Activated PI3Kδ syndrome – reviewing challenges in diagnosis and
treatment. Frontiers in immunology, 14, Artikel 1208567. https://doi.org/10.3389/fimmu.2023.1208567

Heinen, A., Hammermann, J., Smitka, M., Lee-Kirsch, M. A., Berner, R., Schuetz, C., & von der Hagen, M. (2023). Neue Therapien – neue Zukunft? Ein Blick auf die Pädiatrie und darüber hinaus. Pädiatrische Praxis : Zeitschrift für Kinder- und Jugendmedizin in Klinik und Praxis, 1-17.

Knopf, N-C., Speckmann, C., & Schütz, C. (2023). Angeborene Störungen der Immunität. Neonatologie Scan, 12(03), 211-227. https://doi.org/10.1055/a-1687-4068.

Knopf, N.C., Stamos, K., Höger, P.H. et al. Säugling mit multiplen Hämatomen/Purpura-ähnlichen Läsionen. Monatsschr Kinderheilkd (2023). https://doi.org/10.1007/s00112-023-01713-x

2022

Chen, J. W., Schickel, J.-N., Tsakiris, N., Sng, J., Arbogast, F., Bouis, D., Parisi, D., Gera, R., Boeckers, J. M., Delmotte, F. R., Veselits, M., Schuetz, C., Jacobsen, E.-M., Posovszky, C., Schulz, A. S., Schwarz, K., Clark, M. R., Menard, L., & Meffre, E. (2022). Positive and negative selection shape the human naive B cell repertoire. The Journal of Clinical Investigation, 132(2), e150985. https://doi.org/10.1172/JCI150985

Cocchi, N., Jacobsen, E.-M., Hoenig, M., Schulz, A., & Schuetz, C. (2022). BCG Disease in SCID: Three Decades of Experience in a Pediatric Transplant Center. Journal of Clinical Immunology, 42(1), 195–198. https://doi.org/10.1007/s10875-021-01143-y

Felgentreff, K., Baumann, U., Klemann, C., Schuetz, C., Viemann, D., Wetzke, M., Pannicke, U., von Hardenberg, S., Auber, B., Debatin, K.-M., Jacobsen, E.-M., Hoenig, M., Schulz, A., & Schwarz, K. (2022). Biomarkers of DNA Damage Response Enable Flow Cytometry-Based Diagnostic to Identify Inborn DNA Repair Defects in Primary Immunodeficiencies. Journal of Clinical Immunology, 42(2), 286–298. https://doi.org/10.1007/s10875-021-01156-7

Geier, C. B., Ellison, M., Cruz, R., Pawar, S., Leiss-Piller, A., Zmajkovicova, K., McNulty, S. M., Yilmaz, M., Evans, M. O., Gordon, S., Ujhazi, B., Wiest, I., Abolhassani, H., Aghamohammadi, A., Barmettler, S., Bhar, S., Bondarenko, A., Bolyard, A. A., Buchbinder, D., Schuetz, C., … Walter, J. E. (2022). Disease Progression of WHIM Syndrome in an International Cohort of 66 Pediatric and Adult Patients. Journal of Clinical Immunology, 42(8), 1748–1765. https://doi.org/10.1007/s10875-022-01312-7

Haimel, M., Pazmandi, J., Heredia, R. J., Dmytrus, J., Bal, S. K., Zoghi, S., van Daele, P., Briggs, T. A., Wouters, C., Bader-Meunier, B., Aeschlimann, F. A., Caorsi, R., Eleftheriou, D., Hoppenreijs, E., Salzer, E., Bakhtiar, S., Derfalvi, B., Saettini, F., Kusters, M. A. A., Schuetz, C., … Boztug, K. (2022). Curation and expansion of Human Phenotype Ontology for defined groups of inborn errors of immunity. The Journal of Allergy and Clinical Immunology, 149(1), 369–378. https://doi.org/10.1016/j.jaci.2021.04.033

Link-Rachner, C. S., Sockel, K., & Schuetz, C. (2022). Established and Emerging Treatments of Skin GvHD. Frontiers in Immunology, 13, 838494. https://doi.org/10.3389/fimmu.2022.838494

Oommen, P. T., Strauss, T., Baltruschat, K., Foeldvari, I., Deuter, C., Ganser, G., Haas, J.-P., Hinze, C., Holzinger, D., Hospach, A., Huppertz, H.-I., Illhardt, A., Jung, M., Kallinich, T., Klein, A., Minden, K., Mönkemöller, K., Mrusek, S., Neudorf, U., … Schuetz, C. (2022). Update of evidence- and consensus-based guidelines for the treatment of juvenile idiopathic arthritis (JIA) by the German Society of Pediatric and Juvenile Rheumatic Diseases (GKJR): New perspectives on interdisciplinary care. Clinical Immunology (Orlando, Fla.), 245, 109143. https://doi.org/10.1016/j.clim.2022.109143

Park, C., Miranda-Garcia, M., Berendes, R., Horneff, G., Kuemmerle-Deschner, J., Ganser, G., Huppertz, H.-I., Minden, K., Haas, J.-P., Jansson, A. F., Borte, M., Schuetz, C., Oommen, P., Frosch, M., Schlueter, B., Richter-Unruh, A., Kessel, C., Hinze, C., Wittkowski, H., … Holzinger, D. (2022). MRP8/14 serum levels as diagnostic markers for systemic juvenile idiopathic arthritis in children with prolonged fever. Rheumatology (Oxford, England), 61(7), 3082–3092. https://doi.org/10.1093/rheumatology/keab729

Pietzsch, L., Körholz, J., Boschann, F., Sergon, M., Dorjbal, B., Yee, D., Gilly, V., Kämmerer, E., Paul, D., Kastl, C., Laass, M. W., Berner, R., Jacobsen, E. M., Roesler, J., Aust, D., Lee-Kirsch, M. A., Snow, A. L., & Schuetz, C. (2022). Hyper-IgE and Carcinoma in CADINS Disease. Frontiers in Immunology, 13, 878989. https://doi.org/10.3389/fimmu.2022.878989

Vollbach, K., Schuetz, C., Hedrich, C. M., Speth, F., Mönkemöller, K., Brunner, J., Neudorf, U., Rietschel, C., Hospach, A., Kallinich, T., Hinze, C., Wagner, N., Tönshoff, B., Weber, L. T., Latta, K., Thumfart, J., Bald, M., Wiemann, D., Zappel, H., … Haffner, D. (2022). Working Towards a Treat-to-Target Protocol in Juvenile Proliferative Lupus Nephritis—A Survey of Pediatric Rheumatologists and Nephrologists in Germany and Austria. Frontiers in Pediatrics, 10, 851998. https://doi.org/10.3389/fped.2022.851998

Wang, W., Min, Q., Lai, N., Csomos, K., Wang, Y., Liu, L., Meng, X., Sun, J., Hou, J., Ying, W., Zhou, Q., Sun, B., Hui, X., Ujhazi, B., Gordon, S., Buchbinder, D., Schuetz, C., Butte, M., Walter, J. E., … Wang, J.-Y. (2022). Cellular Mechanisms Underlying B Cell Abnormalities in Patients With Gain-of-Function Mutations in the PIK3CD Gene. Frontiers in Immunology, 13, 890073. https://doi.org/10.3389/fimmu.2022.890073

Weber, K., Zeißig, Y., Haag, C., Schmelz, R., Pazmandi, J., Kalinichenko, A., Boztug, K., Zeißig, S., Aust, D., Laass, M. W., & Schuetz, C. (2022). [Chronic or severe enteropathy and immunodeficiency: Be prepared for a rara avis]. Zeitschrift Fur Gastroenterologie, 60(11), 1668–1677. https://doi.org/10.1055/a-1709-5024

Zinngrebe, J., Moepps, B., Monecke, T., Gierschik, P., Schlichtig, F., Barth, T. F. E., Strauß, G., Boldrin, E., Posovszky, C., Schulz, A., Beringer, O., Rieser, E., Jacobsen, E.-M., Lorenz, M. R., Schwarz, K., Pannicke, U., Walczak, H., Niessing, D., Schuetz, C., … Debatin, K.-M. (2022). Compound heterozygous variants in OTULIN are associated with fulminant atypical late-onset ORAS. EMBO Molecular Medicine, 14(3), e14901. https://doi.org/10.15252/emmm.202114901

2021

Albert, M. H., Sirin, M., Hoenig, M., Hauck, F., Schuetz, C., Bhattacharyya, R., Stepensky, P., Jacoby, E., Güngör, T., Beier, R., & Schulz, A. (2021). Salvage HLA-haploidentical hematopoietic stem cell transplantation with post-transplant cyclophosphamide for graft failure in non-malignant disorders. Bone Marrow Transplantation, 56(9), 2248–2258. https://doi.org/10.1038/s41409-021-01323-9

Bienias, M., Gabrielyan, A., Geberzahn, L., Rösen-Wolff, A., Huebner, A., Jacobsen, E.-M., Toepfner, N., Fang, M., Lee-Kirsch, M. A., Roesler, J., & Schuetz, C. (2021). More severe than CVID: Combined immunodeficiency due to a novel NFKB2 mutation. Pediatric Allergy and Immunology: Official Publication of the European Society of Pediatric Allergy and Immunology, 32(4), 793–797. https://doi.org/10.1111/pai.13441

Felgentreff, K., Schuetz, C., Baumann, U., Klemann, C., Viemann, D., Ursu, S., Jacobsen, E.-M., Debatin, K.-M., Schulz, A., Hoenig, M., & Schwarz, K. (2021). Differential DNA Damage Response of Peripheral Blood Lymphocyte Populations. Frontiers in Immunology, 12, 739675. https://doi.org/10.3389/fimmu.2021.739675

Ferrua, F., Bortolomai, I., Fontana, E., Di Silvestre, D., Rigoni, R., Marcovecchio, G. E., Draghici, E., Brambilla, F., Castiello, M. C., Delfanti, G., Moshous, D., Picard, C., Taghon, T., Bordon, V., Schulz, A. S., Schuetz, C., Giliani, S., Soresina, A., Gennery, A. R., … Bosticardo, M. (2021). Thymic Epithelial Cell Alterations and Defective Thymopoiesis Lead to Central and Peripheral Tolerance Perturbation in MHCII Deficiency. Frontiers in Immunology, 12, 669943. https://doi.org/10.3389/fimmu.2021.669943

Heinen, A., Schnabel, A., Brück, N., Smitka, M., Wolf, C., Lucas, N., Dollinger, S., Hahn, G., Günther, C., Berner, R., Lee-Kirsch, M. A., & Schuetz, C. (2021). Interferon signature guiding therapeutic decision making: Ruxolitinib as first-line therapy for severe juvenile dermatomyositis? Rheumatology (Oxford, England), 60(4), e136–e138. https://doi.org/10.1093/rheumatology/keaa657

Hoenig, M., Roesler, J., Seidel, M. G., Albert, M. H., Hauck, F., Maecker-Kolhoff, B., Eiz-Vesper, B., Kleinschmidt, K., Debatin, K.-M., Jacobsen, E.-M., Furlan, I., Suttorp, M., Schuetz, C., & Schulz, A. S. (2021). Matched Family Donor Lymphocyte Infusions as First Cellular Therapy for Patients with Severe Primary T Cell Deficiencies. Transplantation and Cellular Therapy, 27(1), 93.e1-93.e8. https://doi.org/10.1016/j.bbmt.2020.09.037

Janda, A., Schuetz, C., Canna, S., Gorelik, M., Heeg, M., Minden, K., Hinze, C., Schulz, A., Debatin, K.-M., Hedrich, C. M., & Speth, F. (2021). Therapeutic approaches to pediatric COVID-19: An online survey of pediatric rheumatologists. Rheumatology International, 41(5), 911–920. https://doi.org/10.1007/s00296-021-04824-4

Körholz, J., Gabrielyan, A., Sowerby, J. M., Boschann, F., Chen, L.-S., Paul, D., Brandt, D., Kleymann, J., Kolditz, M., Toepfner, N., Knöfler, R., Jacobsen, E.-M., Wolf, C., Conrad, K., Röber, N., Lee-Kirsch, M. A., Smith, K. G. C., Mundlos, S., Berner, R., Schuetz, C., … Rae, W. (2021). One Gene, Many Facets: Multiple Immune Pathway Dysregulation in SOCS1 Haploinsufficiency. Frontiers in Immunology, 12, 680334. https://doi.org/10.3389/fimmu.2021.680334

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., van der Flier, M., van Aerde, K., Kilic, S. S., Reda, S. M., Kostyuchenko, L., Schuetz, C., … Schubert, R. (2021). Simple Measurement of IgA Predicts Immunity and Mortality in Ataxia-Telangiectasia. Journal of Clinical Immunology, 41(8), 1878–1892. https://doi.org/10.1007/s10875-021-01090-8

2020

Janda, A., Schuetz, C., Heeg, M., Minden, K., Hedrich, C. M., Kallinich, T., Hinze, C., Schulz, A., & Speth, F. (2020). [COVID-19: Treatment strategies of German-speaking pediatric rheumatologists : Results of an online survey]. Zeitschrift Fur Rheumatologie, 79(7), 710–717. https://doi.org/10.1007/s00393-020-00854-8

Körholz, J., Richter, N., Schäfer, J., Schuetz, C., & Roesler, J. (2020). A case of recurrent herpes simplex 2 encephalitis, VZV reactivations, and dominant partial interferon-gamma-receptor-1 deficiency supports relevance of IFNgamma for antiviral defense in humans. Molecular and Cellular Pediatrics, 7(1), 14. https://doi.org/10.1186/s40348-020-00106-4

Kreins, A. Y., Junghanns, F., Mifsud, W., Somana, K., Sebire, N., Rampling, D., Worth, A., Sirin, M., Schuetz, C., Schulz, A., Hoenig, M., Thrasher, A. J., & Davies, E. G. (2020). Correction of both immunodeficiency and hypoparathyroidism by thymus transplantation in complete DiGeorge syndrome. American Journal of Transplantation: Official Journal of the American Society of Transplantation and the American Society of Transplant Surgeons, 20(5), 1447–1450. https://doi.org/10.1111/ajt.15668

Rigoni, R., Fontana, E., Dobbs, K., Marrella, V., Taverniti, V., Maina, V., Facoetti, A., D’Amico, G., Al-Herz, W., Cruz-Munoz, M. E., Schuetz, C., Gennery, A. R., Garabedian, E. K., Giliani, S., Draper, D., Dbaibo, G., Geha, R. S., Meyts, I., Tousseyn, T., … Cassani, B. (2020). Cutaneous barrier leakage and gut inflammation drive skin disease in Omenn syndrome. The Journal of Allergy and Clinical Immunology, 146(5), 1165-1179.e11. https://doi.org/10.1016/j.jaci.2020.04.005

Thaventhiran, J. E. D., Lango Allen, H., Burren, O. S., Rae, W., Greene, D., Staples, E., Zhang, Z., Farmery, J. H. R., Simeoni, I., Rivers, E., Maimaris, J., Penkett, C. J., Stephens, J., Deevi, S. V. V., Sanchis-Juan, A., Gleadall, N. S., Thomas, M. J., Sargur, R. B., Gordins, P., Schuetz, C., … Smith, K. G. C. (2020). Whole-genome sequencing of a sporadic primary immunodeficiency cohort. Nature, 583(7814), 90–95. https://doi.org/10.1038/s41586-020-2265-1

2019

Bulkhi, A. A., Dasso, J. F., Schuetz, C., & Walter, J. E. (2019). Approaches to patients with variants in RAG genes: From diagnosis to timely treatment. Expert Review of Clinical Immunology, 15(10), 1033–1046. https://doi.org/10.1080/1744666X.2020.1670060

Ege, M. J., Schuetz, C., Jacobsen, E.-M., Müller-Langer, S. M., Furlan, I., Sirin, M., Pannicke, U., Schwarz, K., Debatin, K.-M., Hönig, M., Schulz, A., & Friedrich, W. (2019). Late thymic deficiency after HLA-haploidentical hematopoietic stem cell transplantation for severe combined immunodeficiency. The Journal of Allergy and Clinical Immunology, 143(4), 1623-1626.e13. https://doi.org/10.1016/j.jaci.2018.11.027

Farmer, J. R., Foldvari, Z., Ujhazi, B., De Ravin, S. S., Chen, K., Bleesing, J. J. H., Schuetz, C., Al-Herz, W., Abraham, R. S., Joshi, A. Y., Costa-Carvalho, B. T., Buchbinder, D., Booth, C., Reiff, A., Ferguson, P. J., Aghamohammadi, A., Abolhassani, H., Puck, J. M., Adeli, M., … Walter, J. E. (2019). Outcomes and Treatment Strategies for Autoimmunity and Hyperinflammation in Patients with RAG Deficiency. The Journal of Allergy and Clinical Immunology. In Practice, 7(6), 1970-1985.e4. https://doi.org/10.1016/j.jaip.2019.02.038

Ferrua, F., Galimberti, S., Courteille, V., Slatter, M. A., Booth, C., Moshous, D., Neven, B., Blanche, S., Cavazzana, M., Laberko, A., Shcherbina, A., Balashov, D., Soncini, E., Porta, F., Al-Mousa, H., Al-Saud, B., Al-Dhekri, H., Arnaout, R., Formankova, R., Schuetz, C., … SCETIDE, PIDTC, EBMT & ESID IEWP. (2019). Hematopoietic stem cell transplantation for CD40 ligand deficiency: Results from an EBMT/ESID-IEWP-SCETIDE-PIDTC study. The Journal of Allergy and Clinical Immunology, 143(6), 2238–2253. https://doi.org/10.1016/j.jaci.2018.12.1010

Posovszky, C., Sirin, M., Jacobsen, E., Lorenz, M., Schwarz, K., Schmidt-Choudhury, A., Rothoeft, T., Schuetz, C., Hönig, M., Debatin, K.-M., Schulz, A., Möller, P., & Barth, T. F. (2019). Persisting enteropathy and disturbed adaptive mucosal immunity due to MHC class II deficiency. Clinical Immunology (Orlando, Fla.), 203, 125–133. https://doi.org/10.1016/j.clim.2019.04.012

Stepensky, P., Grisariu, S., Avni, B., Zaidman, I., Shadur, B., Elpeleg, O., Sirin, M., Hoenig, M., Schuetz, C., Furlan, I., Beer, M., von Harsdorf, S., Bunjes, D., Debatin, K.-M., & Schulz, A. S. (2019). Stem cell transplantation for osteopetrosis in patients beyond the age of 5 years. Blood Advances, 3(6), 862–868. https://doi.org/10.1182/bloodadvances.2018025890

2018

Delmonte, O. M., Schuetz, C., & Notarangelo, L. D. (2018). RAG Deficiency: Two Genes, Many Diseases. Journal of Clinical Immunology, 38(6), 646–655. https://doi.org/10.1007/s10875-018-0537-4

Lawless, D., Geier, C. B., Farmer, J. R., Lango Allen, H., Thwaites, D., Atschekzei, F., Brown, M., Buchbinder, D., Burns, S. O., Butte, M. J., Csomos, K., Deevi, S. V. V., Egner, W., Ehl, S., Eibl, M. M., Fadugba, O., Foldvari, Z., Green, D. M., Henrickson, S. E., Schuetz, C., … Savic, S. (2018). Prevalence and clinical challenges among adults with primary immunodeficiency and recombination-activating gene deficiency. The Journal of Allergy and Clinical Immunology, 141(6), 2303–2306. https://doi.org/10.1016/j.jaci.2018.02.007

Schuetz, C., Hoenig, M., Moshous, D., Weinstock, C., Castelle, M., Bendavid, M., Shimano, K., Tolbert, V., Schulz, A. S., & Dvorak, C. C. (2018). Daratumumab in life-threatening autoimmune hemolytic anemia following hematopoietic stem cell transplantation. Blood Advances, 2(19), 2550–2553. https://doi.org/10.1182/bloodadvances.2018020883

Slack, J., Albert, M. H., Balashov, D., Belohradsky, B. H., Bertaina, A., Bleesing, J., Booth, C., Buechner, J., Buckley, R. H., Ouachée-Chardin, M., Deripapa, E., Drabko, K., Eapen, M., Feuchtinger, T., Finocchi, A., Gaspar, H. B., Ghosh, S., Gillio, A., Gonzalez-Granado, L. I., Schuetz, C., … Primary Immunodeficiency Treatment Consortium. (2018). Outcome of hematopoietic cell transplantation for DNA double-strand break repair disorders. The Journal of Allergy and Clinical Immunology, 141(1), 322-328.e10. https://doi.org/10.1016/j.jaci.2017.02.036