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Items: 1 to 50 of 174

1.

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.

2.

Impaired polysaccharide responsiveness without agammaglobulinemia in three patients with hypomorphic mutations in Bruton Tyrosine Kinase - no detection by newborn screening for primary immunodeficiences.

Krüger R, Baumann U, Borte S, Kölsch U, Lorenz MR, Keller B, Harder I, Warnatz K, Ehl S, Schwarz K, Wahn V, von Bernuth H.

Scand J Immunol. 2019 Aug 4:e12811. doi: 10.1111/sji.12811. [Epub ahead of print]

PMID:
31378960
3.

Non-CF Bronchiectasis as a Possible Indicator of a Primary Immunodeficiency: Diagnosis, Clinical Course, and Quality of Life in a Pediatric Cohort.

Klemann C, Kellermann KB, Ehl S, Stenzel M, Mueller C, Heinzmann A, Bode SFN.

Klin Padiatr. 2019 Jul 24. doi: 10.1055/a-0963-0293. [Epub ahead of print]

PMID:
31340404
4.

The NEW ESID Online Database Network.

Scheible R, Rusch S, Guzman D, Mahlaoui N, Ehl S, Kindle G.

Bioinformatics. 2019 Jul 2. pii: btz525. doi: 10.1093/bioinformatics/btz525. [Epub ahead of print]

PMID:
31263866
5.

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. pii: S1521-6616(19)30155-X. doi: 10.1016/j.clim.2019.06.004. [Epub ahead of print]

PMID:
31195081
6.

Refining the dermatological spectrum in primary immunodeficiency: mucosa-associated lymphoid tissue lymphoma translocation protein 1 deficiency mimicking Netherton/Omenn syndromes.

Wiegmann H, Reunert J, Metze D, Marquardt T, Engel T, Kunde V, Ehl S, Foell D, van den Heuvel I, Oji V, Wittkowski H.

Br J Dermatol. 2019 May 3. doi: 10.1111/bjd.18091. [Epub ahead of print]

PMID:
31049936
7.

Retroviral UNC13D Gene Transfer Restores Cytotoxic Activity of T Cells Derived from Familial Hemophagocytic Lymphohistiocytosis Type 3 Patients In Vitro.

Dettmer V, Bloom K, Gross M, Weissert K, Aichele P, Ehl S, Cathomen T.

Hum Gene Ther. 2019 Aug;30(8):975-984. doi: 10.1089/hum.2019.025. Epub 2019 May 21.

PMID:
31032638
8.

The autoimmune targets in IPEX are dominated by gut epithelial proteins.

Eriksson D, Bacchetta R, Gunnarsson HI, Chan A, Barzaghi F, Ehl S, Hallgren Å, van Gool F, Sardh F, Lundqvist C, Laakso SM, Rönnblom A, Ekwall O, Mäkitie O, Bensing S, Husebye ES, Anderson M, Kämpe O, Landegren N.

J Allergy Clin Immunol. 2019 Jul;144(1):327-330.e8. doi: 10.1016/j.jaci.2019.02.031. Epub 2019 Apr 23. No abstract available.

9.

Evaluating laboratory criteria for combined immunodeficiency in adult patients diagnosed with common variable immunodeficiency.

von Spee-Mayer C, Koemm V, Wehr C, Goldacker S, Kindle G, Bulashevska A, Proietti M, Grimbacher B, Ehl S, Warnatz K.

Clin Immunol. 2019 Jun;203:59-62. doi: 10.1016/j.clim.2019.04.001. Epub 2019 Apr 17.

PMID:
31004792
10.

Phenology, mobility and behaviour of the arcto-alpine species Boloria napaea in its arctic habitat.

Ehl S, Holzhauer SIJ, Ryrholm N, Schmitt T.

Sci Rep. 2019 Mar 7;9(1):3912. doi: 10.1038/s41598-019-40508-7.

11.

Reconstructing evolution at the community level: A case study on Mediterranean amphibians.

Ehl S, Vences M, Veith M.

Mol Phylogenet Evol. 2019 May;134:211-225. doi: 10.1016/j.ympev.2019.02.013. Epub 2019 Feb 21.

PMID:
30797941
12.

The European Society for Immunodeficiencies (ESID) Registry Working Definitions for the Clinical Diagnosis of Inborn Errors of Immunity.

Seidel MG, Kindle G, Gathmann B, Quinti I, Buckland M, van Montfrans J, Scheible R, Rusch S, Gasteiger LM, Grimbacher B, Mahlaoui N, Ehl S; ESID Registry Working Party and collaborators.

J Allergy Clin Immunol Pract. 2019 Jul - Aug;7(6):1763-1770. doi: 10.1016/j.jaip.2019.02.004. Epub 2019 Feb 15.

PMID:
30776527
13.

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
14.

Erratum zu: Impfen bei Immundefizienz : Anwendungshinweise zu den von der Ständigen Impfkommission empfohlenen Impfungen. (II) Impfen bei 1. Primären Immundefekterkrankungen und 2. HIV-Infektion.

Ehl S, Bogdan C, Niehues T, Burchard G, Baumann U, Hecht J, Koch J, Liese JG, Neubert J, Wiese-Posselt M, Zepp F.

Bundesgesundheitsblatt Gesundheitsforschung Gesundheitsschutz. 2019 Mar;62(3):378. doi: 10.1007/s00103-019-02897-y. German. No abstract available.

PMID:
30767036
15.

Dispersal and adaptation strategies of the high mountain butterfly Boloria pales in the Romanian Carpathians.

Ehl S, Böhm N, Wörner M, Rákosy L, Schmitt T.

Front Zool. 2019 Jan 17;16:1. doi: 10.1186/s12983-018-0298-1. eCollection 2019.

16.

The burden of common variable immunodeficiency disorders: a retrospective analysis of the European Society for Immunodeficiency (ESID) registry data.

Odnoletkova I, Kindle G, Quinti I, Grimbacher B, Knerr V, Gathmann B, Ehl S, Mahlaoui N, Van Wilder P, Bogaerts K, de Vries E; Plasma Protein Therapeutics Association (PPTA) Taskforce.

Orphanet J Rare Dis. 2018 Nov 12;13(1):201. doi: 10.1186/s13023-018-0941-0.

17.

Recommendations for the Use of Etoposide-Based Therapy and Bone Marrow Transplantation for the Treatment of HLH: Consensus Statements by the HLH Steering Committee of the Histiocyte Society.

Ehl S, Astigarraga I, von Bahr Greenwood T, Hines M, Horne A, Ishii E, Janka G, Jordan MB, La Rosée P, Lehmberg K, Machowicz R, Nichols KE, Sieni E, Wang Z, Henter JI.

J Allergy Clin Immunol Pract. 2018 Sep - Oct;6(5):1508-1517. doi: 10.1016/j.jaip.2018.05.031. Epub 2018 Jul 4. Review.

PMID:
30201097
18.

Hypomorphic caspase activation and recruitment domain 11 (CARD11) mutations associated with diverse immunologic phenotypes with or without atopic disease.

Dorjbal B, Stinson JR, Ma CA, Weinreich MA, Miraghazadeh B, Hartberger JM, Frey-Jakobs S, Weidinger S, Moebus L, Franke A, Schäffer AA, Bulashevska A, Fuchs S, Ehl S, Limaye S, Arkwright PD, Briggs TA, Langley C, Bethune C, Whyte AF, Alachkar H, Nejentsev S, DiMaggio T, Nelson CG, Stone KD, Nason M, Brittain EH, Oler AJ, Veltri DP, Leahy TR, Conlon N, Poli MC, Borzutzky A, Cohen JI, Davis J, Lambert MP, Romberg N, Sullivan KE, Paris K, Freeman AF, Lucas L, Chandrakasan S, Savic S, Hambleton S, Patel SY, Jordan MB, Theos A, Lebensburger J, Atkinson TP, Torgerson TR, Chinn IK, Milner JD, Grimbacher B, Cook MC, Snow AL.

J Allergy Clin Immunol. 2019 Apr;143(4):1482-1495. doi: 10.1016/j.jaci.2018.08.013. Epub 2018 Aug 28.

PMID:
30170123
19.

Erratum zu: Impfen bei Immundefizienz : Anwendungshinweise zu den von der Ständigen Impfkommission empfohlenen Impfungen. (II) Impfen bei 1. Primären Immundefekterkrankungen und 2. HIV-Infektion.

Ehl S, Bogdan C, Niehues T, Burchard G, Baumann U, Hecht J, Koch J, Neubert J, Wiese-Posselt M, Zepp F.

Bundesgesundheitsblatt Gesundheitsforschung Gesundheitsschutz. 2018 Oct;61(10):1307-1308. doi: 10.1007/s00103-018-2807-y. German. No abstract available.

PMID:
30151554
20.

Is an infectious trigger always required for primary hemophagocytic lymphohistiocytosis? Lessons from in utero and neonatal disease.

Heeg M, Ammann S, Klemann C, Panning M, Falcone V, Hengel H, Lehmberg K, Zur Stadt U, Wustrau K, Janka G, Ehl S.

Pediatr Blood Cancer. 2018 Nov;65(11):e27344. doi: 10.1002/pbc.27344. Epub 2018 Aug 1.

PMID:
30070073
21.

T+ NK+ IL-2 Receptor γ Chain Mutation: a Challenging Diagnosis of Atypical Severe Combined Immunodeficiency.

Stepensky P, Keller B, Shamriz O, von Spee-Mayer C, Friedmann D, Shadur B, Unger S, Fuchs S, NaserEddin A, Rumman N, Amro S, Molho Pessach V, Abuzaitoun O, Somech R, Elpeleg O, Ehl S, Warnatz K.

J Clin Immunol. 2018 May;38(4):527-536. doi: 10.1007/s10875-018-0514-y. Epub 2018 Jun 9.

PMID:
29948574
22.

CD59 deficiency presenting as polyneuropathy and Moyamoya syndrome with endothelial abnormalities of small brain vessels.

Klemann C, Kirschner J, Ammann S, Urbach H, Moske-Eick O, Zieger B, Lorenz MR, Schwarz K, Doostkam S, Ehl S, Korinthenberg R.

Eur J Paediatr Neurol. 2018 Sep;22(5):870-877. doi: 10.1016/j.ejpn.2018.04.003. Epub 2018 Apr 13.

PMID:
29843966
23.

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
24.

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
25.

Disease Evolution and Response to Rapamycin in Activated Phosphoinositide 3-Kinase δ Syndrome: The European Society for Immunodeficiencies-Activated Phosphoinositide 3-Kinase δ Syndrome Registry.

Maccari ME, Abolhassani H, Aghamohammadi A, Aiuti A, Aleinikova O, Bangs C, Baris S, Barzaghi F, Baxendale H, Buckland M, Burns SO, Cancrini C, Cant A, Cathébras P, Cavazzana M, Chandra A, Conti F, Coulter T, Devlin LA, Edgar JDM, Faust S, Fischer A, Garcia-Prat M, Hammarström L, Heeg M, Jolles S, Karakoc-Aydiner E, Kindle G, Kiykim A, Kumararatne D, Grimbacher B, Longhurst H, Mahlaoui N, Milota T, Moreira F, Moshous D, Mukhina A, Neth O, Neven B, Nieters A, Olbrich P, Ozen A, Pachlopnik Schmid J, Picard C, Prader S, Rae W, Reichenbach J, Rusch S, Savic S, Scarselli A, Scheible R, Sediva A, Sharapova SO, Shcherbina A, Slatter M, Soler-Palacin P, Stanislas A, Suarez F, Tucci F, Uhlmann A, van Montfrans J, Warnatz K, Williams AP, Wood P, Kracker S, Condliffe AM, Ehl S.

Front Immunol. 2018 Mar 16;9:543. doi: 10.3389/fimmu.2018.00543. eCollection 2018.

26.

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.

27.

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.

28.

Oncogenic JAK2V617F causes PD-L1 expression, mediating immune escape in myeloproliferative neoplasms.

Prestipino A, Emhardt AJ, Aumann K, O'Sullivan D, Gorantla SP, Duquesne S, Melchinger W, Braun L, Vuckovic S, Boerries M, Busch H, Halbach S, Pennisi S, Poggio T, Apostolova P, Veratti P, Hettich M, Niedermann G, Bartholomä M, Shoumariyeh K, Jutzi JS, Wehrle J, Dierks C, Becker H, Schmitt-Graeff A, Follo M, Pfeifer D, Rohr J, Fuchs S, Ehl S, Hartl FA, Minguet S, Miething C, Heidel FH, Kröger N, Triviai I, Brummer T, Finke J, Illert AL, Ruggiero E, Bonini C, Duyster J, Pahl HL, Lane SW, Hill GR, Blazar BR, von Bubnoff N, Pearce EL, Zeiser R.

Sci Transl Med. 2018 Feb 21;10(429). pii: eaam7729. doi: 10.1126/scitranslmed.aam7729.

29.

T-cell gene therapy for perforin deficiency corrects cytotoxicity defects and prevents hemophagocytic lymphohistiocytosis manifestations.

Ghosh S, Carmo M, Calero-Garcia M, Ricciardelli I, Bustamante Ogando JC, Blundell MP, Schambach A, Ashton-Rickardt PG, Booth C, Ehl S, Lehmberg K, Thrasher AJ, Gaspar HB.

J Allergy Clin Immunol. 2018 Sep;142(3):904-913.e3. doi: 10.1016/j.jaci.2017.11.050. Epub 2018 Jan 31.

30.

Interleukin-18 diagnostically distinguishes and pathogenically promotes human and murine macrophage activation syndrome.

Weiss ES, Girard-Guyonvarc'h C, Holzinger D, de Jesus AA, Tariq Z, Picarsic J, Schiffrin EJ, Foell D, Grom AA, Ammann S, Ehl S, Hoshino T, Goldbach-Mansky R, Gabay C, Canna SW.

Blood. 2018 Mar 29;131(13):1442-1455. doi: 10.1182/blood-2017-12-820852. Epub 2018 Jan 11.

31.

Etoposide for HLH: the limits of efficacy.

Ehl S.

Blood. 2017 Dec 21;130(25):2692-2693. doi: 10.1182/blood-2017-10-808543. No abstract available.

32.

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.

33.

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.

PMID:
29155098
34.

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.

35.

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
36.

Hematopoietic stem cell transplantation in 29 patients hemizygous for hypomorphic IKBKG/NEMO mutations.

Miot C, Imai K, Imai C, Mancini AJ, Kucuk ZY, Kawai T, Nishikomori R, Ito E, Pellier I, Dupuis Girod S, Rosain J, Sasaki S, Chandrakasan S, Pachlopnik Schmid J, Okano T, Colin E, Olaya-Vargas A, Yamazaki-Nakashimada M, Qasim W, Espinosa Padilla S, Jones A, Krol A, Cole N, Jolles S, Bleesing J, Vraetz T, Gennery AR, Abinun M, Güngör T, Costa-Carvalho B, Condino-Neto A, Veys P, Holland SM, Uzel G, Moshous D, Neven B, Blanche S, Ehl S, Döffinger R, Patel SY, Puel A, Bustamante J, Gelfand EW, Casanova JL, Orange JS, Picard C.

Blood. 2017 Sep 21;130(12):1456-1467. doi: 10.1182/blood-2017-03-771600. Epub 2017 Jul 5.

37.

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.

38.

Sexual dimorphism in the alpine butterflies Boloria pales and Boloria napaea: differences in movement and foraging behavior (Lepidoptera: Nymphalidae).

Ehl S, Hostert K, Korsch J, Gros P, Schmitt T.

Insect Sci. 2018 Dec;25(6):1089-1101. doi: 10.1111/1744-7917.12494. Epub 2017 Aug 31.

PMID:
28618194
39.

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.

40.

Treatment of severe forms of LPS-responsive beige-like anchor protein deficiency with allogeneic hematopoietic stem cell transplantation.

Seidel MG, Böhm K, Dogu F, Worth A, Thrasher A, Florkin B, İkincioğulları A, Peters A, Bakhtiar S, Meeths M, Stepensky P, Meyts I, Sharapova SO, Gámez-Díaz L, Hammarström L, Ehl S, Grimbacher B, Gennery AR; Inborn Errors Working Party of the European Group for Blood and Marrow Transplantation.

J Allergy Clin Immunol. 2018 Feb;141(2):770-775.e1. doi: 10.1016/j.jaci.2017.04.023. Epub 2017 May 10. No abstract available.

PMID:
28502825
41.

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
42.

Differences in Granule Morphology yet Equally Impaired Exocytosis among Cytotoxic T Cells and NK Cells from Chediak-Higashi Syndrome Patients.

Chiang SCC, Wood SM, Tesi B, Akar HH, Al-Herz W, Ammann S, Belen FB, Caliskan U, Kaya Z, Lehmberg K, Patiroglu T, Tokgoz H, Ünüvar A, Introne WJ, Henter JI, Nordenskjöld M, Ljunggren HG, Meeths M, Ehl S, Krzewski K, Bryceson YT.

Front Immunol. 2017 Apr 18;8:426. doi: 10.3389/fimmu.2017.00426. eCollection 2017.

43.

Primary and secondary hemophagocytic lymphohistiocytosis have different patterns of T-cell activation, differentiation and repertoire.

Ammann S, Lehmberg K, Zur Stadt U, Janka G, Rensing-Ehl A, Klemann C, Heeg M, Bode S, Fuchs I, Ehl S; HLH study of the GPOH.

Eur J Immunol. 2017 Feb;47(2):364-373. doi: 10.1002/eji.201646686. Epub 2017 Jan 3.

44.

Hematopoietic stem cell transplant in patients with activated PI3K delta syndrome.

Nademi Z, Slatter MA, Dvorak CC, Neven B, Fischer A, Suarez F, Booth C, Rao K, Laberko A, Rodina J, Bertrand Y, Kołtan S, Dębski R, Flood T, Abinun M, Gennery AR, Hambleton S, Ehl S, Cant AJ.

J Allergy Clin Immunol. 2017 Mar;139(3):1046-1049. doi: 10.1016/j.jaci.2016.09.040. Epub 2016 Nov 12. No abstract available.

PMID:
27847301
45.

Tyrosine kinase 2 is not limiting human antiviral type III interferon responses.

Fuchs S, Kaiser-Labusch P, Bank J, Ammann S, Kolb-Kokocinski A, Edelbusch C, Omran H, Ehl S.

Eur J Immunol. 2016 Nov;46(11):2639-2649. doi: 10.1002/eji.201646519. Epub 2016 Oct 5.

46.

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.

47.

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.

48.

Specialized or opportunistic-how does the high mountain endemic butterfly Erebia nivalis survive in its extreme habitats?

Ehl S, Dalstein V, Tull F, Gros P, Schmitt T.

Insect Sci. 2018 Feb;25(1):161-171. doi: 10.1111/1744-7917.12400. Epub 2016 Nov 11.

PMID:
27628710
49.

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.

50.

Immune dysregulation in patients with PTEN hamartoma tumor syndrome: Analysis of FOXP3 regulatory T cells.

Chen HH, Händel N, Ngeow J, Muller J, Hühn M, Yang HT, Heindl M, Berbers RM, Hegazy AN, Kionke J, Yehia L, Sack U, Bläser F, Rensing-Ehl A, Reifenberger J, Keith J, Travis S, Merkenschlager A, Kiess W, Wittekind C, Walker L, Ehl S, Aretz S, Dustin ML, Eng C, Powrie F, Uhlig HH.

J Allergy Clin Immunol. 2017 Feb;139(2):607-620.e15. doi: 10.1016/j.jaci.2016.03.059. Epub 2016 Jun 18.

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