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).

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10 Most Important Publications

1. C. Speckmann, 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. Göhring, 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, “Clinical and Molecular Heterogeneity of RTEL1 Deficiency.,” Front Immunol, vol. 8, p. 449, 2017.

2. C. Speckmann, 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, and S. Ehl, “A prospective study on the natural history of patients with profound combined immunodeficiency: An interim analysis.,” J Allergy Clin Immunol, vol. 139, no. 4, pp. 1302–1310.e4, Apr. 2017.

3. S. Ammann, R. Elling, M. Gyrd-Hansen, G. Duckers, R. Bredius, S. O. Burns, J. D. M. Edgar, A. Worth, H. Brandau, K. Warnatz, U. Zur Stadt, P. Hasselblatt, K. Schwarz, S. Ehl, and C. Speckmann, “A new functional assay for the diagnosis of X-linked inhibitor of apoptosis (XIAP) deficiency.,” Clin Exp Immunol, vol. 176, no. 3, pp. 394–400, Jun. 2014.

4. Speckmann and S. Ehl, “XIAP deficiency is a mendelian cause of late-onset IBD.,” Gut, vol. 63, no. 6, pp. 1031–1032, Jun. 2014.

5. C. Speckmann, 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, “X-linked inhibitor of apoptosis (XIAP) deficiency: the spectrum of presenting manifestations beyond hemophagocytic lymphohistiocytosis.,” Clin Immunol, vol. 149, no. 1, pp. 133–141, Oct. 2013.

6. A. Rensing-Ehl, A. Janda, M. R. Lorenz, B. P. Gladstone, I. Fuchs, M. Abinun, M. Albert, K. Butler, A. J. Cant, A.-M. Cseh, M. Ebinger, S. Goldacker, S. Hambleton, H. Hebart, L. Houet, K. Kentouche, I. Kühnle, K. Lehmberg, E. Mejstrikova, C. Niemeyer, M. Minkov, O. Neth, G. Dückers, S. Owens, J. Roesler, 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, “Sequential decisions on FAS sequencing guided by biomarkersin patients with lymphoproliferation and autoimmune cytopenia.,” Haematologica, Jul. 2013.

7. Speckmann, C. Neumann, S. Borte, G. la Marca, J. O. Sass, E. Wiech, P. Fisch, K. Schwarz, B. Buchholz, M. Schlesier, K. Felgentreff, B. Grimbacher, I. Santisteban, P. Bali, M. S. Hershfield, and S. Ehl, “Delayed-onset adenosine deaminase deficiency: strategies for an early diagnosis.,” J Allergy Clin Immunol, vol. 130, no. 4, pp. 991–994, Oct. 2012.

8. A. Rensing-Ehl, K. Warnatz, S. Fuchs, M. Schlesier, U. Salzer, R. Draeger, I. Bondzio, Y. Joos, A. Janda, M. Gomes, M. Abinun, S. Hambleton, A. J. Cant, F. Shackley, T. J. Flood, C. Waruiru, K. Beutel, K. Siepermann, G. Dueckers, T. Niehues, T. Wiesel, V. Schuster, M. G. Seidel, M. Minkov, K. Sirkiä, M. V. Kopp, M. Korhonen, K. Schwarz, S. Ehl, and C. Speckmann, “Clinical and immunological overlap between autoimmune lymphoproliferative syndrome and common variable immunodeficiency.,” Clin Immunol, vol. 137, no. 3, pp. 357–365, Dec. 2010.

9. Speckmann, 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, “Clinical and immunologic consequences of a somatic reversion in a patient with X-linked severe combined immunodeficiency.,” Blood, vol. 112, no. 10, pp. 4090–4097, Nov. 2008.

10. M. Schmidt*, D. A. Carbonaro*, C.Speckmann*, M. Wissler, J. Bohnsack, M. Elder, B. J. Aronow, J. A. Nolta, D. B. Kohn, and C. von Kalle, “Clonality analysis after retroviral-mediated gene transfer to CD34+ cells from the cord blood of ADA-deficient SCID neonates.,” Nat Med, vol. 9, no. 4, pp. 463–468, Apr. 2003.