Centrum für Chronische Immundefizienz - CCI

Primary immunodeficiencies (PID) with clinical presentation in early childhood are life-threatening conditions. Fortunately, hematopoietic stem cell transplantation (HSCT) is a promising treatment option, offering the potential for definite cure in many PID conditions. However, the procedure also entails significant risks. The group of Carsten Speckmann has a particular focus on natural history studies on indication and outcome of PIDs requiring HSCT (i.e. combined immunodeficiencies, XIAP deficiency). More recent activities additionally focus on newborn screening for severe combined immunodeficiency (SCID).

CV

10 Most Important Publications

1. Fischer, M., P. Olbrich, J. Hadjadj, V. Aumann, S. Bakhtiar, V. Barlogis, P. von Bismarck, M. Bloomfield, C. Booth, E.P. Buddingh, D. Cagdas, M. Castelle, A.Y. Chan, S. Chandrakasan, K. Chetty, P. Cougoul, E. Crickx, J. Dara, A. Deya-Martinez, S. Farmand, R. Formankova, A.R. Gennery, L.I. Gonzalez-Granado, D. Hagin, L.G. Hanitsch, J. Hanzlikova, F. Hauck, J. Ivorra-Cortes, K. Kisand, A. Kiykim, J. Korholz, T.R. Leahy, J. van Montfrans, Z. Nademi, B. Nelken, S. Parikh, S. Plado, J. Ramakers, A. Redlich, F. Rieux-Laucat, J.G. Riviere, Y. Rodina, P.R. Junior, S. Salou, C. Schuetz, A. Shcherbina, M.A. Slatter, F. Touzot, E. Unal, A.C. Lankester, S. Burns, M.R.J. Seppanen, O. Neth, M.H. Albert, S. Ehl, B. Neven, and C. Speckmann. 2024. JAK inhibitor treatment for inborn errors of JAK/STAT signaling: An ESID/EBMT-IEWP retrospective study. J Allergy Clin Immunol 153:275-286 e218. doi:10.1016/j.jaci.2023.10.018.

2. Speckmann, C., U. Nennstiel, M. Honig, M.H. Albert, S. Ghosh, C. Schuetz, I. Brockow, F. Horster, T. Niehues, S. Ehl, V. Wahn, S. Borte, K. Lehmberg, U. Baumann, R. Beier, R. Kruger, S. Bakhtiar, J.S. Kuehl, C. Klemann, U. Kontny, U. Holzer, A. Meinhardt, H. Morbach, N. Naumann-Bartsch, T. Rothoeft, A.Y. Kreins, E.G. Davies, D.T. Schneider, H.V. Bernuth, T. Klingebiel, G.F. Hoffmann, A. Schulz, and F. Hauck. 2023. Prospective Newborn Screening for SCID in Germany: A First Analysis by the Pediatric Immunology Working Group (API). J Clin Immunol 43:965-978. doi:10.1007/s10875-023-01450-6.

3. Speckmann, C., S. Doerken, A. Aiuti, M.H. Albert, W. Al-Herz, L.M. Allende, A. Scarselli, T. Avcin, R. Perez-Becker, C. Cancrini, A. Cant, S. Di Cesare, A. Finocchi, A. Fischer, H.B. Gaspar, S. Ghosh, A. Gennery, K. Gilmour, L.I. Gonzalez-Granado, M. Martinez-Gallo, S. Hambleton, F. Hauck, M. Hoenig, D. Moshous, B. Neven, T. Niehues, L. Notarangelo, C. Picard, N. Rieber, A. Schulz, K. Schwarz, M.G. Seidel, P. Soler-Palacin, P. Stepensky, B. Strahm, T. Vraetz, K. Warnatz, C. Winterhalter, A. Worth, S. Fuchs, A. Uhlmann, S. Ehl, and P.C.s.o.t.I.E.W.P.o.t. EBMT. 2017a. A prospective study on the natural history of patients with profound combined immunodeficiency: An interim analysis. J Allergy Clin Immunol 139:1302-1310 e1304. doi:10.1016/j.jaci.2016.07.040.

4. Speckmann, C., S.S. Sahoo, M. Rizzi, S. Hirabayashi, A. Karow, N.K. Serwas, M. Hoemberg, N. Damatova, D. Schindler, J.B. Vannier, S.J. Boulton, U. Pannicke, G. Gohring, K. Thomay, J.J. Verdu-Amoros, H. Hauch, W. Woessmann, G. Escherich, E. Laack, L. Rindle, M. Seidl, A. Rensing-Ehl, E. Lausch, C. Jandrasits, B. Strahm, K. Schwarz, S.R. Ehl, C. Niemeyer, K. Boztug, and M.W. Wlodarski. 2017b. Clinical and Molecular Heterogeneity of RTEL1 Deficiency. Front Immunol 8:449. doi:10.3389/fimmu.2017.00449.

5. Ammann, S., R. Elling, M. Gyrd-Hansen, G. Duckers, R. Bredius, S.O. Burns, J.D. Edgar, A. Worth, H. Brandau, K. Warnatz, U. Zur Stadt, P. Hasselblatt, K. Schwarz, S. Ehl, and C. Speckmann. 2014. A new functional assay for the diagnosis of X-linked inhibitor of apoptosis (XIAP) deficiency. Clin Exp Immunol 176:394-400. doi:10.1111/cei.12306.

6. Speckmann, C., and S. Ehl. 2014. XIAP deficiency is a mendelian cause of late-onset IBD. Gut 63:1031-1032. doi:10.1136/gutjnl-2013-306474.

7. Rensing-Ehl, A., A. Janda, M.R. Lorenz, B.P. Gladstone, I. Fuchs, M. Abinun, M. Albert, K. Butler, A. Cant, A.M. Cseh, M. Ebinger, S. Goldacker, S. Hambleton, H. Hebart, L. Houet, K. Kentouche, I. Kuhnle, K. Lehmberg, E. Mejstrikova, C. Niemeyer, M. Minkov, O. Neth, G. Duckers, S. Owens, J. Rosler, F.H. Schilling, V. Schuster, M.G. Seidel, P. Smisek, M. Sukova, P. Svec, T. Wiesel, B. Gathmann, K. Schwarz, W. Vach, S. Ehl, and C. Speckmann. 2013. Sequential decisions on FAS sequencing guided by biomarkers in patients with lymphoproliferation and autoimmune cytopenia. Haematologica 98:1948-1955. doi:10.3324/haematol.2012.081901.

8. Speckmann, C., K. Lehmberg, M.H. Albert, R.B. Damgaard, M. Fritsch, M. Gyrd-Hansen, A. Rensing-Ehl, T. Vraetz, B. Grimbacher, U. Salzer, I. Fuchs, H. Ufheil, B.H. Belohradsky, A. Hassan, C.M. Cale, M. Elawad, B. Strahm, S. Schibli, M. Lauten, M. Kohl, J.J. Meerpohl, B. Rodeck, R. Kolb, W. Eberl, J. Soerensen, H. von Bernuth, M. Lorenz, K. Schwarz, U. Zur Stadt, and S. Ehl. 2013. X-linked inhibitor of apoptosis (XIAP) deficiency: the spectrum of presenting manifestations beyond hemophagocytic lymphohistiocytosis. Clin Immunol 149:133-141. doi:10.1016/j.clim.2013.07.004.

9. Speckmann, C., U. Pannicke, E. Wiech, K. Schwarz, P. Fisch, W. Friedrich, T. Niehues, K. Gilmour, K. Buiting, M. Schlesier, H. Eibel, J. Rohr, A. Superti-Furga, U. Gross-Wieltsch, and S. Ehl. 2008. Clinical and immunologic consequences of a somatic reversion in a patient with X-linked severe combined immunodeficiency. Blood 112:4090-4097. doi:10.1182/blood-2008-04-153361.

10. Schmidt, M., D.A. Carbonaro, C. Speckmann, M. Wissler, J. Bohnsack, M. Elder, B.J. Aronow, J.A. Nolta, D.B. Kohn, and C. von Kalle. 2003. Clonality analysis after retroviral-mediated gene transfer to CD34+ cells from the cord blood of ADA-deficient SCID neonates. Nat Med 9:463-468. doi:10.1038/nm844.

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