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Items: 8

1.

CD56 as a marker of an ILC1-like population with NK cell properties that is functionally impaired in AML.

Salomé B, Gomez-Cadena A, Loyon R, Suffiotti M, Salvestrini V, Wyss T, Vanoni G, Ruan DF, Rossi M, Tozzo A, Tentorio P, Bruni E, Riether C, Jacobsen EM, Jandus P, Conrad C, Hoenig M, Schulz A, Michaud K, Della Porta MG, Salvatore S, Ho PC, Gfeller D, Ochsenbein A, Mavilio D, Curti A, Marcenaro E, Steinle A, Horowitz A, Romero P, Trabanelli S, Jandus C.

Blood Adv. 2019 Nov 26;3(22):3674-3687. doi: 10.1182/bloodadvances.2018030478.

2.

NK Cells from RAG- or DCLRE1C-Deficient Patients Inhibit HCMV.

Wu Z, Subramanian N, Jacobsen EM, Laib Sampaio K, van der Merwe J, Hönig M, Mertens T.

Microorganisms. 2019 Nov 10;7(11). pii: E546. doi: 10.3390/microorganisms7110546.

3.

A combined immunodeficiency with severe infections, inflammation, and allergy caused by ARPC1B deficiency.

Volpi S, Cicalese MP, Tuijnenburg P, Tool ATJ, Cuadrado E, Abu-Halaweh M, Ahanchian H, Alzyoud R, Akdemir ZC, Barzaghi F, Blank A, Boisson B, Bottino C, Brigida I, Caorsi R, Casanova JL, Chiesa S, Chinn IK, Dückers G, Enders A, Erichsen HC, Forbes LR, Gambin T, Gattorno M, Karimiani EG, Giliani S, Gold MS, Jacobsen EM, Jansen MH, King JR, Laxer RM, Lupski JR, Mace E, Marcenaro S, Maroofian R, Meijer AB, Niehues T, Notarangelo LD, Orange J, Pannicke U, Pearson C, Picco P, Quinn PJ, Schulz A, Seeborg F, Stray-Pedersen A, Tawamie H, van Leeuwen EMM, Aiuti A, Yeung R, Schwarz K, Kuijpers TW.

J Allergy Clin Immunol. 2019 Jun;143(6):2296-2299. doi: 10.1016/j.jaci.2019.02.003. Epub 2019 Feb 13. No abstract available.

4.

Late thymic deficiency after HLA-haploidentical hematopoietic stem cell transplantation for severe combined immunodeficiency.

Ege MJ, Schuetz C, Jacobsen EM, Müller-Langer SM, Furlan I, Sirin M, Pannicke U, Schwarz K, Debatin KM, Hönig M, Schulz A, Friedrich W.

J Allergy Clin Immunol. 2019 Apr;143(4):1623-1626.e13. doi: 10.1016/j.jaci.2018.11.027. Epub 2018 Dec 7. No abstract available.

PMID:
30529243
5.

Preserved in vitro immunoreactivity in children receiving long-term immunosuppressive therapy due to inflammatory bowel disease or autoimmune hepatitis.

Schleker T, Jacobsen EM, Mayer B, Strauss G, Debatin KM, Posovszky C.

Mol Cell Pediatr. 2018 Jan 19;5(1):1. doi: 10.1186/s40348-018-0079-0.

6.

Reticular dysgenesis: international survey on clinical presentation, transplantation, and outcome.

Hoenig M, Lagresle-Peyrou C, Pannicke U, Notarangelo LD, Porta F, Gennery AR, Slatter M, Cowan MJ, Stepensky P, Al-Mousa H, Al-Zahrani D, Pai SY, Al Herz W, Gaspar HB, Veys P, Oshima K, Imai K, Yabe H, Noroski LM, Wulffraat NM, Sykora KW, Soler-Palacin P, Muramatsu H, Al Hilali M, Moshous D, Debatin KM, Schuetz C, Jacobsen EM, Schulz AS, Schwarz K, Fischer A, Friedrich W, Cavazzana M; European Society for Blood and Marrow Transplantation (EBMT) Inborn Errors Working Party.

Blood. 2017 May 25;129(21):2928-2938. doi: 10.1182/blood-2016-11-745638. Epub 2017 Mar 22.

7.

MCM3AP and POMP Mutations Cause a DNA-Repair and DNA-Damage-Signaling Defect in an Immunodeficient Child.

Gatz SA, Salles D, Jacobsen EM, Dörk T, Rausch T, Aydin S, Surowy H, Volcic M, Vogel W, Debatin KM, Stütz AM, Schwarz K, Pannicke U, Hess T, Korbel JO, Schulz AS, Schumacher J, Wiesmüller L.

Hum Mutat. 2016 Mar;37(3):257-68. doi: 10.1002/humu.22939. Epub 2015 Dec 30.

PMID:
26615982
8.

Lesson from hypomorphic recombination-activating gene (RAG) mutations: Why asymptomatic siblings should also be tested.

Schuetz C, Pannicke U, Jacobsen EM, Burggraf S, Albert MH, Hönig M, Niehues T, Feyen O, Ehl S, Debatin KM, Friedrich W, Schulz AS, Schwarz K.

J Allergy Clin Immunol. 2014 Apr;133(4):1211-5. doi: 10.1016/j.jaci.2013.10.021. Epub 2013 Dec 10. No abstract available.

PMID:
24331380

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