Carsten Speckmann

Overview

Best Publications

• Autosomal dominant immune dysregulation syndrome in humans with CTLA4 mutations.

  Desireé Schubert;Desireé Schubert;Claudia Bode;Rupert Kenefeck;Tie Zheng Hou

  894
  Citations

• Clinical spectrum and features of activated phosphoinositide 3-kinase δ syndrome: A large patient cohort study.

  Tanya I Coulter;Anita Chandra;Chris M Bacon;Judith Babar

  468
  Citations

• Phenotype, penetrance, and treatment of 133 cytotoxic T-lymphocyte antigen 4–insufficient subjects

  Charlotte Schwab;Annemarie Gabrysch;Peter Olbrich;Virginia Patiño

  443
  Citations

• The extended phenotype of LPS-responsive beige-like anchor protein (LRBA) deficiency

  Laura Gámez-Díaz;Dietrich August;Polina Stepensky;Shoshana Revel-Vilk

  315
  Citations

• Long-term follow-up of IPEX syndrome patients after different therapeutic strategies: An international multicenter retrospective study

  Federica Barzaghi;Laura Cristina Amaya Hernandez;Benedicte Neven;Silvia Ricci

  293
  Citations

• Lethal hemophagocytic lymphohistiocytosis in Hermansky-Pudlak syndrome type II

  Anselm Enders;Barbara Zieger;Klaus Schwarz;Ayami Yoshimi

  240
  Citations

• The syndrome of hemophagocytic lymphohistiocytosis in primary immunodeficiencies: implications for differential diagnosis and pathogenesis

  Sebastian Fn Bode;Sandra Ammann;Waleed Al-Herz;Mihaela Bataneant

  193
  Citations

• X-linked inhibitor of apoptosis (XIAP) deficiency: the spectrum of presenting manifestations beyond hemophagocytic lymphohistiocytosis.

  C. Speckmann;K. Lehmberg;M.H. Albert;R.B. Damgaard

  189
  Citations

• PGM3 mutations cause a congenital disorder of glycosylation with severe immunodeficiency and skeletal dysplasia.

  Asbjørg Stray-Pedersen;Paul H. Backe;Paul H. Backe;Hanne S. Sorte;Lars Mørkrid;Lars Mørkrid

  186
  Citations

• Clinical and immunological manifestations of patients with atypical severe combined immunodeficiency.

  Kerstin Felgentreff;Ruy Perez-Becker;Carsten Speckmann;Klaus Schwarz

  186
  Citations

• Antiviral and Regulatory T Cell Immunity in a Patient with Stromal Interaction Molecule 1 Deficiency

  Sebastian Fuchs;Anne Rensing-Ehl;Carsten Speckmann;Bertram Bengsch

  180
  Citations

• Outcome of hematopoietic stem cell transplantation for adenosine deaminase–deficient severe combined immunodeficiency

  Amel Hassan;Claire Booth;Alex Brightwell;Zoe Allwood

  177
  Citations

• Clonality analysis after retroviral-mediated gene transfer to CD34+ cells from the cord blood of ADA-deficient SCID neonates.

  Manfred Schmidt;Denise A Carbonaro;Carsten Speckmann;Manuela Wissler

  161
  Citations

• Initial presenting manifestations in 16,486 patients with inborn errors of immunity include infections and noninfectious manifestations.

  Julian Thalhammer;Gerhard Kindle;Alexandra Nieters;Stephan Rusch

  158
  Citations

• Disease-causing mutations in the XIAP BIR2 domain impair NOD2-dependent immune signalling.

  Rune Busk Damgaard;Berthe Katrine Fiil;Carsten Speckmann;Monica Yabal

  156
  Citations

• Long-term outcomes of 176 patients with X-linked hyper-IgM syndrome treated with or without hematopoietic cell transplantation

  M. Teresa de la Morena;David Leonard;Troy R. Torgerson;Otavio Cabral-Marques

  142
  Citations

• Atypical familial hemophagocytic lymphohistiocytosis due to mutations in UNC13D and STXBP2 overlaps with primary immunodeficiency diseases

  Jan Rohr;Karin Beutel;Andrea Maul-Pavicic;Thomas Vraetz

  140
  Citations

• The expansion of human T-bet high CD21 low B cells is T cell dependent

  Baerbel Keller;Valentina Strohmeier;Valentina Strohmeier;Ina Harder;Susanne Unger

  134
  Citations

• Pathogenic fungi regulate immunity by inducing neutrophilic myeloid-derived suppressor cells

  Nikolaus Rieber;Anurag Singh;Hasan Öz;Melanie Carevic

  128
  Citations

• Activating PI3Kδ mutations in a cohort of 669 patients with primary immunodeficiency.

  M Elgizouli;M Elgizouli;D M Lowe;C Speckmann;D Schubert;D Schubert

  108
  Citations

• Hyperactive mTOR pathway promotes lymphoproliferation and abnormal differentiation in autoimmune lymphoproliferative syndrome

  Simon Völkl;Anne Rensing-Ehl;Andrea Allgäuer;Elisabeth Schreiner

  107
  Citations