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Items: 1 to 50 of 72

1.

Ulceration in Prolidase Deficiency: Successful Treatment with Anticoagulants.

Süßmuth K, Metze D, Muresan AM, Lehmberg K, Zur Stadt U, Speckmann C, Park JH, Marquardt T, Oji V, Goerge T.

Acta Derm Venereol. 2019 Sep 25. doi: 10.2340/00015555-3324. [Epub ahead of print] No abstract available.

2.

Functional flow cytometry of monocytes for routine diagnosis of innate primary immunodeficiencies.

Ammann S, Fuchs S, Martin-Martin L, Castro CN, Spielberger B, Klemann C, Elling R, Heeg M, Speckmann C, Hainmann I, Kaiser-Labusch P, Horneff G, Thalhammer J, Bredius RG, Stadt UZ, Lehmberg K, Fuchs I, von Spee-Mayer C, Henneke P, Ehl S.

J Allergy Clin Immunol. 2019 Sep 14. pii: S0091-6749(19)31186-8. doi: 10.1016/j.jaci.2019.09.002. [Epub ahead of print]

PMID:
31526803
3.

The German National Registry of Primary Immunodeficiencies (2012-2017).

El-Helou SM, Biegner AK, Bode S, Ehl SR, Heeg M, Maccari ME, Ritterbusch H, Speckmann C, Rusch S, Scheible R, Warnatz K, Atschekzei F, Beider R, Ernst D, Gerschmann S, Jablonka A, Mielke G, Schmidt RE, Schürmann G, Sogkas G, Baumann UH, Klemann C, Viemann D, von Bernuth H, Krüger R, Hanitsch LG, Scheibenbogen CM, Wittke K, Albert MH, Eichinger A, Hauck F, Klein C, Rack-Hoch A, Sollinger FM, Avila A, Borte M, Borte S, Fasshauer M, Hauenherm A, Kellner N, Müller AH, Ülzen A, Bader P, Bakhtiar S, Lee JY, Heß U, Schubert R, Wölke S, Zielen S, Ghosh S, Laws HJ, Neubert J, Oommen PT, Hönig M, Schulz A, Steinmann S, Schwarz K, Dückers G, Lamers B, Langemeyer V, Niehues T, Shai S, Graf D, Müglich C, Schmalzing MT, Schwaneck EC, Tony HP, Dirks J, Haase G, Liese JG, Morbach H, Foell D, Hellige A, Wittkowski H, Masjosthusmann K, Mohr M, Geberzahn L, Hedrich CM, Müller C, Rösen-Wolff A, Roesler J, Zimmermann A, Behrends U, Rieber N, Schauer U, Handgretinger R, Holzer U, Henes J, Kanz L, Boesecke C, Rockstroh JK, Schwarze-Zander C, Wasmuth JC, Dilloo D, Hülsmann B, Schönberger S, Schreiber S, Zeuner R, Ankermann T, von Bismarck P, Huppertz HI, Kaiser-Labusch P, Greil J, Jakoby D, Kulozik AE, Metzler M, Naumann-Bartsch N, Sobik B, Graf N, Heine S, Kobbe R, Lehmberg K, Müller I, Herrmann F, Horneff G, Klein A, Peitz J, Schmidt N, Bielack S, Groß-Wieltsch U, Classen CF, Klasen J, Deutz P, Kamitz D, Lassay L, Tenbrock K, Wagner N, Bernbeck B, Brummel B, Lara-Villacanas E, Münstermann E, Schneider DT, Tietsch N, Westkemper M, Weiß M, Kramm C, Kühnle I, Kullmann S, Girschick H, Specker C, Vinnemeier-Laubenthal E, Haenicke H, Schulz C, Schweigerer L, Müller TG, Stiefel M, Belohradsky BH, Soetedjo V, Kindle G, Grimbacher B.

Front Immunol. 2019 Jul 19;10:1272. doi: 10.3389/fimmu.2019.01272. eCollection 2019.

4.

Profound immunodeficiency with severe skin disease explained by concomitant novel CARMIL2 and PLEC1 loss-of-function mutations.

Maccari ME, Speckmann C, Heeg M, Reimer A, Casetti F, Has C, Ehl S, Castro CN.

Clin Immunol. 2019 Jun 10;208:108228. doi: 10.1016/j.clim.2019.06.004. [Epub ahead of print]

PMID:
31195081
5.

Increased proportions of γδ T lymphocytes in atypical SCID associate with disease manifestations.

Tometten I, Felgentreff K, Hönig M, Hauck F, Albert MH, Niehues T, Perez R, Ghosh S, Picard C, Stary J, Formankova R, Worth A, Soler-Palacín P, García-Prat M, Allende LM, Gonzalez-Granado LI, Stepensky P, Di Cesare S, Scarselli A, Cancrini C, Speckmann C, Gilmour K, Notarangelo L, Ehl S, Rohr JC.

Clin Immunol. 2019 Apr;201:30-34. doi: 10.1016/j.clim.2018.11.006. Epub 2019 Feb 15.

PMID:
30776520
6.

Hematopoietic stem cell transplantation for CD40 ligand deficiency: Results from an EBMT/ESID-IEWP-SCETIDE-PIDTC study.

Ferrua F, Galimberti S, Courteille V, Slatter MA, Booth C, Moshous D, Neven B, Blanche S, Cavazzana M, Laberko A, Shcherbina A, Balashov D, Soncini E, Porta F, Al-Mousa H, Al-Saud B, Al-Dhekri H, Arnaout R, Formankova R, Bertrand Y, Lange A, Smart J, Wolska-Kusnierz B, Aquino VM, Dvorak CC, Fasth A, Fouyssac F, Heilmann C, Hoenig M, Schuetz C, Kelečić J, Bredius RGM, Lankester AC, Lindemans CA, Suarez F, Sullivan KE, Albert MH, Kałwak K, Barlogis V, Bhatia M, Bordon V, Czogala W, Alonso L, Dogu F, Gozdzik J, Ikinciogullari A, Kriván G, Ljungman P, Meyts I, Mustillo P, Smith AR, Speckmann C, Sundin M, Keogh SJ, Shaw PJ, Boelens JJ, Schulz AS, Sedlacek P, Veys P, Mahlaoui N, Janda A, Davies EG, Fischer A, Cowan MJ, Gennery AR; SCETIDE, PIDTC, EBMT & ESID IEWP.

J Allergy Clin Immunol. 2019 Jun;143(6):2238-2253. doi: 10.1016/j.jaci.2018.12.1010. Epub 2019 Jan 17.

7.

Epigenetic immune cell counting in human blood samples for immunodiagnostics.

Baron U, Werner J, Schildknecht K, Schulze JJ, Mulu A, Liebert UG, Sack U, Speckmann C, Gossen M, Wong RJ, Stevenson DK, Babel N, Schürmann D, Baldinger T, Bacchetta R, Grützkau A, Borte S, Olek S.

Sci Transl Med. 2018 Aug 1;10(452). pii: eaan3508. doi: 10.1126/scitranslmed.aan3508.

PMID:
30068569
8.

CD57 identifies T cells with functional senescence before terminal differentiation and relative telomere shortening in patients with activated PI3 kinase delta syndrome.

Cura Daball P, Ventura Ferreira MS, Ammann S, Klemann C, Lorenz MR, Warthorst U, Leahy TR, Conlon N, Roche J, Soler-Palacín P, Garcia-Prat M, Fuchs I, Fuchs S, Beier F, Brümmendorf TH, Speckmann C, Olbrich P, Neth O, Schwarz K, Ehl S, Rensing-Ehl A.

Immunol Cell Biol. 2018 Nov;96(10):1060-1071. doi: 10.1111/imcb.12169. Epub 2018 Jun 14.

PMID:
29790605
9.

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

Schwab C, Gabrysch A, Olbrich P, Patiño V, Warnatz K, Wolff D, Hoshino A, Kobayashi M, Imai K, Takagi M, Dybedal I, Haddock JA, Sansom DM, Lucena JM, Seidl M, Schmitt-Graeff A, Reiser V, Emmerich F, Frede N, Bulashevska A, Salzer U, Schubert D, Hayakawa S, Okada S, Kanariou M, Kucuk ZY, Chapdelaine H, Petruzelkova L, Sumnik Z, Sediva A, Slatter M, Arkwright PD, Cant A, Lorenz HM, Giese T, Lougaris V, Plebani A, Price C, Sullivan KE, Moutschen M, Litzman J, Freiberger T, van de Veerdonk FL, Recher M, Albert MH, Hauck F, Seneviratne S, Pachlopnik Schmid J, Kolios A, Unglik G, Klemann C, Speckmann C, Ehl S, Leichtner A, Blumberg R, Franke A, Snapper S, Zeissig S, Cunningham-Rundles C, Giulino-Roth L, Elemento O, Dückers G, Niehues T, Fronkova E, Kanderová V, Platt CD, Chou J, Chatila TA, Geha R, McDermott E, Bunn S, Kurzai M, Schulz A, Alsina L, Casals F, Deyà-Martinez A, Hambleton S, Kanegane H, Taskén K, Neth O, Grimbacher B.

J Allergy Clin Immunol. 2018 Dec;142(6):1932-1946. doi: 10.1016/j.jaci.2018.02.055. Epub 2018 May 4.

PMID:
29729943
10.

Germline deletion of CIN85 in humans with X chromosome-linked antibody deficiency.

Keller B, Shoukier M, Schulz K, Bhatt A, Heine I, Strohmeier V, Speckmann C, Engels N, Warnatz K, Wienands J.

J Exp Med. 2018 May 7;215(5):1327-1336. doi: 10.1084/jem.20170534. Epub 2018 Apr 10.

11.

A RAB27A 5' untranslated region structural variant associated with late-onset hemophagocytic lymphohistiocytosis and normal pigmentation.

Tesi B, Rascon J, Chiang SCC, Burnyte B, Löfstedt A, Fasth A, Heizmann M, Juozapaite S, Kiudeliene R, Kvedaraite E, Miseviciene V, Muleviciene A, Müller ML, Nordenskjöld M, Matuzeviciene R, Samaitiene R, Speckmann C, Stankeviciene S, Zekas V, Voss M, Ehl S, Vaiciene-Magistris N, Henter JI, Meeths M, Bryceson YT.

J Allergy Clin Immunol. 2018 Jul;142(1):317-321.e8. doi: 10.1016/j.jaci.2018.02.031. Epub 2018 Mar 6. No abstract available.

12.

Prevalence and clinical challenges among adults with primary immunodeficiency and recombination-activating gene deficiency.

Lawless D, Geier CB, Farmer JR, Lango Allen H, Thwaites D, Atschekzei F, Brown M, Buchbinder D, Burns SO, Butte MJ, Csomos K, Deevi SVV, Egner W, Ehl S, Eibl MM, Fadugba O, Foldvari Z, Green DM, Henrickson SE, Holland SM, John T, Klemann C, Kuijpers TW, Moreira F, Piller A, Rayner-Matthews P, Romberg ND, Sargur R, Schmidt RE, Schröder C, Schuetz C, Sharapova SO, Smith KGC, Sogkas G, Speckmann C, Stirrups K, Thrasher AJ, Wolf HM, Notarangelo LD, Anwar R, Boyes J, Ujhazi B; NIHR BioResource–Rare Diseases Consortium, Thaventhiran J, Walter JE, Savic S.

J Allergy Clin Immunol. 2018 Jun;141(6):2303-2306. doi: 10.1016/j.jaci.2018.02.007. Epub 2018 Mar 2. No abstract available.

13.

Variable impairment of platelet functions in patients with severe, genetically linked immune deficiencies.

Nagy M, Mastenbroek TG, Mattheij NJA, de Witt S, Clemetson KJ, Kirschner J, Schulz AS, Vraetz T, Speckmann C, Braun A, Cosemans JMEM, Zieger B, Heemskerk JWM.

Haematologica. 2018 Mar;103(3):540-549. doi: 10.3324/haematol.2017.176974. Epub 2017 Dec 14.

14.

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

Barzaghi F, Amaya Hernandez LC, Neven B, Ricci S, Kucuk ZY, Bleesing JJ, Nademi Z, Slatter MA, Ulloa ER, Shcherbina A, Roppelt A, Worth A, Silva J, Aiuti A, Murguia-Favela L, Speckmann C, Carneiro-Sampaio M, Fernandes JF, Baris S, Ozen A, Karakoc-Aydiner E, Kiykim A, Schulz A, Steinmann S, Notarangelo LD, Gambineri E, Lionetti P, Shearer WT, Forbes LR, Martinez C, Moshous D, Blanche S, Fisher A, Ruemmele FM, Tissandier C, Ouachee-Chardin M, Rieux-Laucat F, Cavazzana M, Qasim W, Lucarelli B, Albert MH, Kobayashi I, Alonso L, Diaz De Heredia C, Kanegane H, Lawitschka A, Seo JJ, Gonzalez-Vicent M, Diaz MA, Goyal RK, Sauer MG, Yesilipek A, Kim M, Yilmaz-Demirdag Y, Bhatia M, Khlevner J, Richmond Padilla EJ, Martino S, Montin D, Neth O, Molinos-Quintana A, Valverde-Fernandez J, Broides A, Pinsk V, Ballauf A, Haerynck F, Bordon V, Dhooge C, Garcia-Lloret ML, Bredius RG, Kałwak K, Haddad E, Seidel MG, Duckers G, Pai SY, Dvorak CC, Ehl S, Locatelli F, Goldman F, Gennery AR, Cowan MJ, Roncarolo MG, Bacchetta R; Primary Immune Deficiency Treatment Consortium (PIDTC) and the Inborn Errors Working Party (IEWP) of the European Society for Blood and Marrow Transplantation (EBMT).

J Allergy Clin Immunol. 2018 Mar;141(3):1036-1049.e5. doi: 10.1016/j.jaci.2017.10.041. Epub 2017 Dec 11.

15.

ORAI1 mutations abolishing store-operated Ca2+ entry cause anhidrotic ectodermal dysplasia with immunodeficiency.

Lian J, Cuk M, Kahlfuss S, Kozhaya L, Vaeth M, Rieux-Laucat F, Picard C, Benson MJ, Jakovcevic A, Bilic K, Martinac I, Stathopulos P, Kacskovics I, Vraetz T, Speckmann C, Ehl S, Issekutz T, Unutmaz D, Feske S.

J Allergy Clin Immunol. 2018 Oct;142(4):1297-1310.e11. doi: 10.1016/j.jaci.2017.10.031. Epub 2017 Nov 16.

16.

Corrigendum: Clinical and Molecular Heterogeneity of RTEL1 Deficiency.

Speckmann C, Sahoo SS, Rizzi M, Hirabayashi S, Karow A, Serwas NK, Hoemberg M, Damatova N, Schindler D, Vannier JB, Boulton SJ, Pannicke U, Göhring G, Thomay K, Verdu-Amoros JJ, Hauch H, Woessmann W, Escherich G, Laack E, Rindle L, Seidl M, Rensing-Ehl A, Lausch E, Jandrasits C, Strahm B, Schwarz K, Ehl SR, Niemeyer C, Boztug K, Wlodarski MW.

Front Immunol. 2017 Oct 2;8:1250. doi: 10.3389/fimmu.2017.01250. eCollection 2017.

17.

Effective Immunological Guidance of Genetic Analyses Including Exome Sequencing in Patients Evaluated for Hemophagocytic Lymphohistiocytosis.

Ammann S, Lehmberg K, Zur Stadt U, Klemann C, Bode SFN, Speckmann C, Janka G, Wustrau K, Rakhmanov M, Fuchs I, Hennies HC, Ehl S; HLH study of the GPOH.

J Clin Immunol. 2017 Nov;37(8):770-780. doi: 10.1007/s10875-017-0443-1. Epub 2017 Sep 21.

PMID:
28936583
18.

Targeted Gene Panel Sequencing for Early-onset Inflammatory Bowel Disease and Chronic Diarrhea.

Petersen BS, August D, Abt R, Alddafari M, Atarod L, Baris S, Bhavsar H, Brinkert F, Buchta M, Bulashevska A, Chee R, Cordeiro AI, Dara N, Dückers G, Elmarsafy A, Frede N, Galal N, Gerner P, Glocker EO, Goldacker S, Hammermann J, Hasselblatt P, Havlicekova Z, Hübscher K, Jesenak M, Karaca NE, Karakoc-Aydiner E, Kharaghani MM, Kilic SS, Kiykim A, Klein C, Klemann C, Kobbe R, Kotlarz D, Laass MW, Leahy TR, Mesdaghi M, Mitton S, Neves JF, Öztürk B, Pereira LF, Rohr J, Restrepo JLR, Ruzaike G, Saleh N, Seneviratne S, Senol E, Speckmann C, Tegtmeyer D, Thankam P, van der Werff Ten Bosch J, von Bernuth H, Zeissig S, Zeissig Y, Franke A, Grimbacher B.

Inflamm Bowel Dis. 2017 Dec;23(12):2109-2120. doi: 10.1097/MIB.0000000000001235.

PMID:
28930861
19.

The BEACH protein LRBA is required for hair bundle maintenance in cochlear hair cells and for hearing.

Vogl C, Butola T, Haag N, Hausrat TJ, Leitner MG, Moutschen M, Lefèbvre PP, Speckmann C, Garrett L, Becker L, Fuchs H, Hrabe de Angelis M, Nietzsche S, Kessels MM, Oliver D, Kneussel M, Kilimann MW, Strenzke N.

EMBO Rep. 2017 Nov;18(11):2015-2029. doi: 10.15252/embr.201643689. Epub 2017 Sep 11.

20.

Hemophagocytic lymphohistiocytosis as presenting manifestation of profound combined immunodeficiency due to an ORAI1 mutation.

Klemann C, Ammann S, Heizmann M, Fuchs S, Bode SF, Heeg M, Fuchs H, Lehmberg K, Zur Stadt U, Roll C, Vraetz T, Speckmann C, Lorenz MR, Schwarz K, Rohr J, Feske S, Ehl S.

J Allergy Clin Immunol. 2017 Dec;140(6):1721-1724. doi: 10.1016/j.jaci.2017.05.039. Epub 2017 Jun 19. No abstract available.

21.

Clinical and Molecular Heterogeneity of RTEL1 Deficiency.

Speckmann C, Sahoo SS, Rizzi M, Hirabayashi S, Karow A, Serwas NK, Hoemberg M, Damatova N, Schindler D, Vannier JB, Boulton SJ, Pannicke U, Göhring G, Thomay K, Verdu-Amoros JJ, Hauch H, Woessmann W, Escherich G, Laack E, Rindle L, Seidl M, Rensing-Ehl A, Lausch E, Jandrasits C, Strahm B, Schwarz K, Ehl SR, Niemeyer C, Boztug K, Wlodarski MW.

Front Immunol. 2017 May 1;8:449. doi: 10.3389/fimmu.2017.00449. eCollection 2017. Erratum in: Front Immunol. 2017 Oct 02;8:1250.

22.

IgG4-related disease in autoimmune lymphoproliferative syndrome.

van de Ven AAJM, Seidl M, Drendel V, Schmitt-Graeff A, Voll RE, Rensing-Ehl A, Speckmann C, Ehl S, Warnatz K, Kollert F.

Clin Immunol. 2017 Jul;180:97-99. doi: 10.1016/j.clim.2017.05.003. Epub 2017 May 3.

PMID:
28478106
23.

Symptomatic Cytomegalovirus Infections in the First Year of Life: When Is Antiviral Therapy Conceived to Be Justified?

Schuster K, Goelz R, Speckmann C, Henneke P.

Pediatr Infect Dis J. 2017 Feb;36(2):224-227. doi: 10.1097/INF.0000000000001407.

PMID:
28079836
24.

Human RAD52 - a novel player in DNA repair in cancer and immunodeficiency.

Ghosh S, Hönscheid A, Dückers G, Ginzel S, Gohlke H, Gombert M, Kempkes B, Klapper W, Kuhlen M, Laws HJ, Linka RM, Meisel R, Mielke C, Niehues T, Schindler D, Schneider D, Schuster FR, Speckmann C, Borkhardt A.

Haematologica. 2017 Feb;102(2):e69-e72. doi: 10.3324/haematol.2016.155838. Epub 2016 Dec 15. No abstract available.

25.

Newborn screening for severe combined immunodeficiency using a novel and simplified method to measure T-cell excision circles (TREC).

Tagliaferri L, Kunz JB, Happich M, Esposito S, Bruckner T, Hübschmann D, Okun JG, Hoffmann GF, Schulz A, Kappe J, Speckmann C, Muckenthaler MU, Kulozik AE.

Clin Immunol. 2017 Feb;175:51-55. doi: 10.1016/j.clim.2016.11.016. Epub 2016 Dec 2.

PMID:
27916705
26.

Evolution of disease activity and biomarkers on and off rapamycin in 28 patients with autoimmune lymphoproliferative syndrome.

Klemann C, Esquivel M, Magerus-Chatinet A, Lorenz MR, Fuchs I, Neveux N, Castelle M, Rohr J, da Cunha CB, Ebinger M, Kobbe R, Kremens B, Kollert F, Gambineri E, Lehmberg K, Seidel MG, Siepermann K, Voelker T, Schuster V, Goldacker S, Schwarz K, Speckmann C, Picard C, Fischer A, Rieux-Laucat F, Ehl S, Rensing-Ehl A, Neven B.

Haematologica. 2017 Feb;102(2):e52-e56. doi: 10.3324/haematol.2016.153411. Epub 2016 Oct 27. No abstract available.

27.

A prospective study on the natural history of patients with profound combined immunodeficiency: An interim analysis.

Speckmann C, Doerken S, Aiuti A, Albert MH, Al-Herz W, Allende LM, Scarselli A, Avcin T, Perez-Becker R, Cancrini C, Cant A, Di Cesare S, Finocchi A, Fischer A, Gaspar HB, Ghosh S, Gennery A, Gilmour K, González-Granado LI, Martinez-Gallo M, Hambleton S, Hauck F, Hoenig M, Moshous D, Neven B, Niehues T, Notarangelo L, Picard C, Rieber N, Schulz A, Schwarz K, Seidel MG, Soler-Palacin P, Stepensky P, Strahm B, Vraetz T, Warnatz K, Winterhalter C, Worth A, Fuchs S, Uhlmann A, Ehl S; P-CID study of the Inborn Errors Working Party of the EBMT.

J Allergy Clin Immunol. 2017 Apr;139(4):1302-1310.e4. doi: 10.1016/j.jaci.2016.07.040. Epub 2016 Sep 19.

28.

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

de la Morena MT, Leonard D, Torgerson TR, Cabral-Marques O, Slatter M, Aghamohammadi A, Chandra S, Murguia-Favela L, Bonilla FA, Kanariou M, Damrongwatanasuk R, Kuo CY, Dvorak CC, Meyts I, Chen K, Kobrynski L, Kapoor N, Richter D, DiGiovanni D, Dhalla F, Farmaki E, Speckmann C, Español T, Shcherbina A, Hanson IC, Litzman J, Routes JM, Wong M, Fuleihan R, Seneviratne SL, Small TN, Janda A, Bezrodnik L, Seger R, Raccio AG, Edgar JD, Chou J, Abbott JK, van Montfrans J, González-Granado LI, Bunin N, Kutukculer N, Gray P, Seminario G, Pasic S, Aquino V, Wysocki C, Abolhassani H, Dorsey M, Cunningham-Rundles C, Knutsen AP, Sleasman J, Costa Carvalho BT, Condino-Neto A, Grunebaum E, Chapel H, Ochs HD, Filipovich A, Cowan M, Gennery A, Cant A, Notarangelo LD, Roifman CM.

J Allergy Clin Immunol. 2017 Apr;139(4):1282-1292. doi: 10.1016/j.jaci.2016.07.039. Epub 2016 Sep 30.

29.

XIAP deficiency and MEFV variants resulting in an autoinflammatory lymphoproliferative syndrome.

Christiansen M, Ammann S, Speckmann C, Mogensen TH.

BMJ Case Rep. 2016 Sep 28;2016. pii: bcr2016216922. doi: 10.1136/bcr-2016-216922.

30.

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

Coulter TI, Chandra A, Bacon CM, Babar J, Curtis J, Screaton N, Goodlad JR, Farmer G, Steele CL, Leahy TR, Doffinger R, Baxendale H, Bernatoniene J, Edgar JD, Longhurst HJ, Ehl S, Speckmann C, Grimbacher B, Sediva A, Milota T, Faust SN, Williams AP, Hayman G, Kucuk ZY, Hague R, French P, Brooker R, Forsyth P, Herriot R, Cancrini C, Palma P, Ariganello P, Conlon N, Feighery C, Gavin PJ, Jones A, Imai K, Ibrahim MA, Markelj G, Abinun M, Rieux-Laucat F, Latour S, Pellier I, Fischer A, Touzot F, Casanova JL, Durandy A, Burns SO, Savic S, Kumararatne DS, Moshous D, Kracker S, Vanhaesebroeck B, Okkenhaug K, Picard C, Nejentsev S, Condliffe AM, Cant AJ.

J Allergy Clin Immunol. 2017 Feb;139(2):597-606.e4. doi: 10.1016/j.jaci.2016.06.021. Epub 2016 Jul 16.

31.

X-linked Inhibitor of Apoptosis Complicated by Granulomatous Lymphocytic Interstitial Lung Disease (GLILD) and Granulomatous Hepatitis.

Steele CL, Doré M, Ammann S, Loughrey M, Montero A, Burns SO, Morris EC, Gaspar B, Gilmour K, Bibi S, Shendi H, Devlin L, Speckmann C, Edgar DM.

J Clin Immunol. 2016 Oct;36(7):733-8. doi: 10.1007/s10875-016-0320-3. Epub 2016 Aug 5.

PMID:
27492372
32.

Activated PI3Kδ syndrome type 2: Two patients, a novel mutation, and review of the literature.

Olbrich P, Lorenz M, Cura Daball P, Lucena JM, Rensing-Ehl A, Sanchez B, Führer M, Camacho-Lovillo M, Melon M, Schwarz K, Neth O, Speckmann C.

Pediatr Allergy Immunol. 2016 Sep;27(6):640-4. doi: 10.1111/pai.12585. Epub 2016 May 27. Review.

PMID:
27116393
33.

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

Völkl S, Rensing-Ehl A, Allgäuer A, Schreiner E, Lorenz MR, Rohr J, Klemann C, Fuchs I, Schuster V, von Bueren AO, Naumann-Bartsch N, Gambineri E, Siepermann K, Kobbe R, Nathrath M, Arkwright PD, Miano M, Stachel KD, Metzler M, Schwarz K, Kremer AN, Speckmann C, Ehl S, Mackensen A.

Blood. 2016 Jul 14;128(2):227-38. doi: 10.1182/blood-2015-11-685024. Epub 2016 Apr 20.

PMID:
27099149
34.

Disturbed B-lymphocyte selection in autoimmune lymphoproliferative syndrome.

Janda A, Schwarz K, van der Burg M, Vach W, Ijspeert H, Lorenz MR, Elgizouli M, Pieper K, Fisch P, Hagel J, Lorenzetti R, Seidl M, Roesler J, Hauck F, Traggiai E, Speckmann C, Rensing-Ehl A, Ehl S, Eibel H, Rizzi M.

Blood. 2016 May 5;127(18):2193-202. doi: 10.1182/blood-2015-04-642488. Epub 2016 Feb 23.

PMID:
26907631
35.

Transplantation from a symptomatic carrier sister restores host defenses but does not prevent colitis in NEMO deficiency.

Klemann C, Pannicke U, Morris-Rosendahl DJ, Vlantis K, Rizzi M, Uhlig H, Vraetz T, Speckmann C, Strahm B, Pasparakis M, Schwarz K, Ehl S, Rohr JC.

Clin Immunol. 2016 Mar;164:52-6. doi: 10.1016/j.clim.2016.01.010. Epub 2016 Jan 23.

36.

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

Gámez-Díaz L, August D, Stepensky P, Revel-Vilk S, Seidel MG, Noriko M, Morio T, Worth AJJ, Blessing J, Van de Veerdonk F, Feuchtinger T, Kanariou M, Schmitt-Graeff A, Jung S, Seneviratne S, Burns S, Belohradsky BH, Rezaei N, Bakhtiar S, Speckmann C, Jordan M, Grimbacher B.

J Allergy Clin Immunol. 2016 Jan;137(1):223-230. doi: 10.1016/j.jaci.2015.09.025.

PMID:
26768763
37.

Preserved effector functions of human ORAI1- and STIM1-deficient neutrophils.

Elling R, Keller B, Weidinger C, Häffner M, Deshmukh SD, Zee I, Speckmann C, Ehl S, Schwarz K, Feske S, Henneke P.

J Allergy Clin Immunol. 2016 May;137(5):1587-1591.e7. doi: 10.1016/j.jaci.2015.09.047. Epub 2015 Dec 6. No abstract available.

38.

Gray platelet syndrome can mimic autoimmune lymphoproliferative syndrome.

Rensing-Ehl A, Pannicke U, Zimmermann SY, Lorenz MR, Neven B, Fuchs I, Salzer U, Speckmann C, Strauss A, Maaβ E, Collet B, Enders A, Favier R, Alessi MC, Rieux-Laucat F, Zieger B, Schwarz K, Ehl S.

Blood. 2015 Oct 15;126(16):1967-9. doi: 10.1182/blood-2015-06-654145. No abstract available.

39.

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

Elgizouli M, Lowe DM, Speckmann C, Schubert D, Hülsdünker J, Eskandarian Z, Dudek A, Schmitt-Graeff A, Wanders J, Jørgensen SF, Fevang B, Salzer U, Nieters A, Burns S, Grimbacher B.

Clin Exp Immunol. 2016 Feb;183(2):221-9. doi: 10.1111/cei.12706. Epub 2015 Nov 9.

40.

Omenn syndrome associated with a functional reversion due to a somatic second-site mutation in CARD11 deficiency.

Fuchs S, Rensing-Ehl A, Pannicke U, Lorenz MR, Fisch P, Jeelall Y, Rohr J, Speckmann C, Vraetz T, Farmand S, Schmitt-Graeff A, Krüger M, Strahm B, Henneke P, Enders A, Horikawa K, Goodnow C, Schwarz K, Ehl S.

Blood. 2015 Oct 1;126(14):1658-69. doi: 10.1182/blood-2015-03-631374. Epub 2015 Aug 19.

41.

SYK expression endows human ZAP70-deficient CD8 T cells with residual TCR signaling.

Hauck F, Blumenthal B, Fuchs S, Lenoir C, Martin E, Speckmann C, Vraetz T, Mannhardt-Laakmann W, Lambert N, Gil M, Borte S, Audrain M, Schwarz K, Lim A, Schamel WW, Fischer A, Ehl S, Rensing-Ehl A, Picard C, Latour S.

Clin Immunol. 2015 Dec;161(2):103-9. doi: 10.1016/j.clim.2015.07.002. Epub 2015 Jul 14.

PMID:
26187144
42.

Diagnostic and therapeutic challenges in a child with complete interferon-γ receptor 1 deficiency.

Olbrich P, Martínez-Saavedra MT, Perez-Hurtado JM, Sanchez C, Sanchez B, Deswarte C, Obando I, Casanova JL, Speckmann C, Bustamante J, Rodriguez-Gallego C, Neth O.

Pediatr Blood Cancer. 2015 Nov;62(11):2036-9. doi: 10.1002/pbc.25625. Epub 2015 Jul 14. Review. Erratum in: Pediatr Blood Cancer. 2016 Feb;63(2):377.

43.

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

Bode SF, Ammann S, Al-Herz W, Bataneant M, Dvorak CC, Gehring S, Gennery A, Gilmour KC, Gonzalez-Granado LI, Groß-Wieltsch U, Ifversen M, Lingman-Framme J, Matthes-Martin S, Mesters R, Meyts I, van Montfrans JM, Pachlopnik Schmid J, Pai SY, Soler-Palacin P, Schuermann U, Schuster V, Seidel MG, Speckmann C, Stepensky P, Sykora KW, Tesi B, Vraetz T, Waruiru C, Bryceson YT, Moshous D, Lehmberg K, Jordan MB, Ehl S; Inborn Errors Working Party of the EBMT.

Haematologica. 2015 Jul;100(7):978-88. doi: 10.3324/haematol.2014.121608. Epub 2015 May 28.

44.

Symptomatic males and female carriers in a large Caucasian kindred with XIAP deficiency.

Dziadzio M, Ammann S, Canning C, Boyle F, Hassan A, Cale C, Elawad M, Fiil BK, Gyrd-Hansen M, Salzer U, Speckmann C, Grimbacher B.

J Clin Immunol. 2015 Jul;35(5):439-44. doi: 10.1007/s10875-015-0166-0. Epub 2015 May 6.

PMID:
25943627
45.

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

Rieber N, Singh A, Öz H, Carevic M, Bouzani M, Amich J, Ost M, Ye Z, Ballbach M, Schäfer I, Mezger M, Klimosch SN, Weber AN, Handgretinger R, Krappmann S, Liese J, Engeholm M, Schüle R, Salih HR, Marodi L, Speckmann C, Grimbacher B, Ruland J, Brown GD, Beilhack A, Loeffler J, Hartl D.

Cell Host Microbe. 2015 Apr 8;17(4):507-14. doi: 10.1016/j.chom.2015.02.007. Epub 2015 Mar 12.

46.

Reversible pancytopenia and immunodeficiency in a patient with hereditary folate malabsorption.

Erlacher M, Grünert SC, Cseh A, Steinfeld R, Salzer U, Lausch E, Nosswitz U, Dückers G, Niehues T, Ehl S, Niemeyer CM, Speckmann C.

Pediatr Blood Cancer. 2015 Jun;62(6):1091-4. doi: 10.1002/pbc.25364. Epub 2014 Dec 11.

PMID:
25504888
47.

Autosomal dominant immune dysregulation syndrome in humans with CTLA4 mutations.

Schubert D, Bode C, Kenefeck R, Hou TZ, Wing JB, Kennedy A, Bulashevska A, Petersen BS, Schäffer AA, Grüning BA, Unger S, Frede N, Baumann U, Witte T, Schmidt RE, Dueckers G, Niehues T, Seneviratne S, Kanariou M, Speckmann C, Ehl S, Rensing-Ehl A, Warnatz K, Rakhmanov M, Thimme R, Hasselblatt P, Emmerich F, Cathomen T, Backofen R, Fisch P, Seidl M, May A, Schmitt-Graeff A, Ikemizu S, Salzer U, Franke A, Sakaguchi S, Walker LSK, Sansom DM, Grimbacher B.

Nat Med. 2014 Dec;20(12):1410-1416. doi: 10.1038/nm.3746. Epub 2014 Oct 20.

48.

Patients with T⁺/low NK⁺ IL-2 receptor γ chain deficiency have differentially-impaired cytokine signaling resulting in severe combined immunodeficiency.

Fuchs S, Rensing-Ehl A, Erlacher M, Vraetz T, Hartjes L, Janda A, Rizzi M, Lorenz MR, Gilmour K, de Saint-Basile G, Roifman CM, Cheuk S, Gennery A, Thrasher AJ, Fuchs I, Schwarz K, Speckmann C, Ehl S.

Eur J Immunol. 2014 Oct;44(10):3129-40. doi: 10.1002/eji.201444689. Epub 2014 Aug 28.

49.

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

Stray-Pedersen A, Backe PH, Sorte HS, Mørkrid L, Chokshi NY, Erichsen HC, Gambin T, Elgstøen KB, Bjørås M, Wlodarski MW, Krüger M, Jhangiani SN, Muzny DM, Patel A, Raymond KM, Sasa GS, Krance RA, Martinez CA, Abraham SM, Speckmann C, Ehl S, Hall P, Forbes LR, Merckoll E, Westvik J, Nishimura G, Rustad CF, Abrahamsen TG, Rønnestad A, Osnes LT, Egeland T, Rødningen OK, Beck CR; Baylor-Johns Hopkins Center for Mendelian Genomics, Boerwinkle EA, Gibbs RA, Lupski JR, Orange JS, Lausch E, Hanson IC.

Am J Hum Genet. 2014 Jul 3;95(1):96-107. doi: 10.1016/j.ajhg.2014.05.007. Epub 2014 Jun 12.

50.

Abnormally differentiated CD4+ or CD8+ T cells with phenotypic and genetic features of double negative T cells in human Fas deficiency.

Rensing-Ehl A, Völkl S, Speckmann C, Lorenz MR, Ritter J, Janda A, Abinun M, Pircher H, Bengsch B, Thimme R, Fuchs I, Ammann S, Allgäuer A, Kentouche K, Cant A, Hambleton S, Bettoni da Cunha C, Huetker S, Kühnle I, Pekrun A, Seidel MG, Hummel M, Mackensen A, Schwarz K, Ehl S.

Blood. 2014 Aug 7;124(6):851-60. doi: 10.1182/blood-2014-03-564286. Epub 2014 Jun 3.

PMID:
24894771

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