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Page 1
Immunodeficiency with susceptibility to lymphoma with complex genotype affecting energy metabolism (FBP1, ACAD9) and vesicle trafficking (RAB27A).
Brauer N, Maruta Y, Lisci M, Strege K, Oschlies I, Nakamura H, Böhm S, Lehmberg K, Brandhoff L, Ehl S, Parvaneh N, Klapper W, Fukuda M, Griffiths GM, Hennies HC, Niehues T, Ammann S. Brauer N, et al. Among authors: lehmberg k. Front Immunol. 2023 Jun 14;14:1151166. doi: 10.3389/fimmu.2023.1151166. eCollection 2023. Front Immunol. 2023. PMID: 37388727 Free PMC article.
Prospective Newborn Screening for SCID in Germany: A First Analysis by the Pediatric Immunology Working Group (API).
Speckmann C, Nennstiel U, Hönig M, Albert MH, 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 JS, Klemann C, Kontny U, Holzer U, Meinhardt A, Morbach H, Naumann-Bartsch N, Rothoeft T, Kreins AY, Davies EG, Schneider DT, Bernuth HV, Klingebiel T, Hoffmann GF, Schulz A, Hauck F. Speckmann C, et al. Among authors: lehmberg k. J Clin Immunol. 2023 Jul;43(5):965-978. doi: 10.1007/s10875-023-01450-6. Epub 2023 Feb 27. J Clin Immunol. 2023. PMID: 36843153 Free PMC article.
Activated phosphoinositide 3-kinase δ syndrome: Update from the ESID Registry and comparison with other autoimmune-lymphoproliferative inborn errors of immunity.
Maccari ME, Wolkewitz M, Schwab C, Lorenzini T, Leiding JW, Aladjdi N, Abolhassani H, Abou-Chahla W, Aiuti A, Azarnoush S, Baris S, Barlogis V, Barzaghi F, Baumann U, Bloomfield M, Bohynikova N, Bodet D, Boutboul D, Bucciol G, Buckland MS, Burns SO, Cancrini C, Cathébras P, Cavazzana M, Cheminant M, Chinello M, Ciznar P, Coulter TI, D'Aveni M, Ekwall O, Eric Z, Eren E, Fasth A, Frange P, Fournier B, Garcia-Prat M, Gardembas M, Geier C, Ghosh S, Goda V, Hammarström L, Hauck F, Heeg M, Heropolitanska-Pliszka E, Hilfanova A, Jolles S, Karakoc-Aydiner E, Kindle GR, Kiykim A, Klemann C, Koletsi P, Koltan S, Kondratenko I, Körholz J, Krüger R, Jeziorski E, Levy R, Le Guenno G, Lefevre G, Lougaris V, Marzollo A, Mahlaoui N, Malphettes M, Meinhardt A, Merlin E, Meyts I, Milota T, Moreira F, Moshous D, Mukhina A, Neth O, Neubert J, Neven B, Nieters A, Nove-Josserand R, Oksenhendler E, Ozen A, Olbrich P, Perlat A, Pac M, Schmid JP, Pacillo L, Parra-Martinez A, Paschenko O, Pellier I, Sefer AP, Plebani A, Plantaz D, Prader S, Raffray L, Ritterbusch H, Riviere JG, Rivalta B, Rusch S, Sakovich I, Savic S, Scheible R, Schleinitz N, Schuetz C, Schulz A, Sediva A, Semeraro M, Sharapova SO, Shcher… See abstract for full author list ➔ Maccari ME, et al. J Allergy Clin Immunol. 2023 Oct;152(4):984-996.e10. doi: 10.1016/j.jaci.2023.06.015. Epub 2023 Jun 28. J Allergy Clin Immunol. 2023. PMID: 37390899 Free article.
Patients and mice with deficiency in the SNARE protein SYNTAXIN-11 have a secondary B cell defect.
Kögl T, Chang HF, Staniek J, Chiang SCC, Thoulass G, Lao J, Weißert K, Dettmer-Monaco V, Geiger K, Manna PT, Beziat V, Momenilandi M, Tu SM, Keppler SJ, Pattu V, Wolf P, Kupferschmid L, Tholen S, Covill LE, Ebert K, Straub T, Groß M, Gather R, Engel H, Salzer U, Schell C, Maier S, Lehmberg K, Cornu TI, Pircher H, Shahrooei M, Parvaneh N, Elling R, Rizzi M, Bryceson YT, Ehl S, Aichele P, Ammann S. Kögl T, et al. Among authors: lehmberg k. J Exp Med. 2024 Jul 1;221(7):e20221122. doi: 10.1084/jem.20221122. Epub 2024 May 9. J Exp Med. 2024. PMID: 38722309 Free PMC article.
Abnormal biomarkers predict complex FAS or FADD defects missed by exome sequencing.
Rensing-Ehl A, Lorenz MR, Führer M, Willenbacher W, Willenbacher E, Sopper S, Abinun M, Maccari ME, König C, Haegele P, Fuchs S, Castro C, Kury P, Pelle O, Klemann C, Heeg M, Thalhammer J, Wegehaupt O, Fischer M, Goldacker S, Schulte B, Biskup S, Chatelain P, Schuster V, Warnatz K, Grimbacher B, Meinhardt A, Holzinger D, Oommen PT, Hinze T, Hebart H, Seeger K, Lehmberg K, Leahy TR, Claviez A, Vieth S, Schilling FH, Fuchs I, Groß M, Rieux-Laucat F, Magerus A, Speckmann C, Schwarz K, Ehl S; ALPS Study Group. Rensing-Ehl A, et al. Among authors: lehmberg k. J Allergy Clin Immunol. 2024 Jan;153(1):297-308.e12. doi: 10.1016/j.jaci.2023.11.006. Epub 2023 Nov 17. J Allergy Clin Immunol. 2024. PMID: 37979702
Survival in primary hemophagocytic lymphohistiocytosis, 2016 to 2021: etoposide is better than its reputation.
Böhm S, Wustrau K, Pachlopnik Schmid J, Prader S, Ahlmann M, Yacobovich J, Beier R, Speckmann C, Behnisch W, Ifversen M, Jordan M, Marsh R, Naumann-Bartsch N, Mauz-Körholz C, Hönig M, Schulz A, Malinowska I, Hines M, Nichols KE, Gil-Herrera J, Talano JA, Crooks B, Formankova R, Jorch N, Bakhtiar S, Kühnle I, Streiter M, Nathrath M, Russo A, Dürken M, Lang P, Lindemans C, Henter JI, Lehmberg K, Ehl S. Böhm S, et al. Among authors: lehmberg k. Blood. 2024 Mar 7;143(10):872-881. doi: 10.1182/blood.2023022281. Blood. 2024. PMID: 37992218
Risk factors for early death in children with haemophagocytic lymphohistiocytosis.
Trottestam H, Berglöf E, Horne A, Onelöv E, Beutel K, Lehmberg K, Sieni E, Silfverberg T, Aricò M, Janka G, Henter JI. Trottestam H, et al. Among authors: lehmberg k. Acta Paediatr. 2012 Mar;101(3):313-8. doi: 10.1111/j.1651-2227.2011.02501.x. Epub 2011 Nov 17. Acta Paediatr. 2012. PMID: 22017632
Distinct mutations in STXBP2 are associated with variable clinical presentations in patients with familial hemophagocytic lymphohistiocytosis type 5 (FHL5).
Pagel J, Beutel K, Lehmberg K, Koch F, Maul-Pavicic A, Rohlfs AK, Al-Jefri A, Beier R, Bomme Ousager L, Ehlert K, Gross-Wieltsch U, Jorch N, Kremens B, Pekrun A, Sparber-Sauer M, Mejstrikova E, Wawer A, Ehl S, zur Stadt U, Janka G. Pagel J, et al. Among authors: lehmberg k. Blood. 2012 Jun 21;119(25):6016-24. doi: 10.1182/blood-2011-12-398958. Epub 2012 Mar 26. Blood. 2012. PMID: 22451424 Free article.
98 results