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Results: 1 to 20 of 93

1.

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 May 6. [Epub ahead of print]

PMID:
25943627
2.

Acanthocytosis and the c.680 A>G Mutation in the PANK2 Gene: A Study Enrolling a Cohort of PKAN Patients from the Dominican Republic.

Schiessl-Weyer J, Roa P, Laccone F, Kluge B, Tichy A, De Almeida Ribeiro E, Prohaska R, Stoeter P, Siegl C, Salzer U.

PLoS One. 2015 Apr 27;10(4):e0125861. doi: 10.1371/journal.pone.0125861. eCollection 2015.

3.

Association of CLEC16A with human common variable immunodeficiency disorder and role in murine B cells.

Li J, Jørgensen SF, Maggadottir SM, Bakay M, Warnatz K, Glessner J, Pandey R, Salzer U, Schmidt RE, Perez E, Resnick E, Goldacker S, Buchta M, Witte T, Padyukov L, Videm V, Folseraas T, Atschekzei F, Elder JT, Nair RP, Winkelmann J, Gieger C, Nöthen MM, Büning C, Brand S, Sullivan KE, Orange JS, Fevang B, Schreiber S, Lieb W, Aukrust P, Chapel H, Cunningham-Rundles C, Franke A, Karlsen TH, Grimbacher B, Hakonarson H, Hammarström L, Ellinghaus E.

Nat Commun. 2015 Apr 20;6:6804. doi: 10.1038/ncomms7804.

PMID:
25891430
4.

Diffuse parenchymal lung disease as first clinical manifestation of GATA-2 deficiency in childhood.

Svobodova T, Mejstrikova E, Salzer U, Sukova M, Hubacek P, Matej R, Vasakova M, Hornofova L, Dvorakova M, Fronkova E, Votava F, Freiberger T, Pohunek P, Stary J, Janda A.

BMC Pulm Med. 2015 Feb 10;15:8. doi: 10.1186/s12890-015-0006-2.

5.

β2-Microglobulin deficiency causes a complex immunodeficiency of the innate and adaptive immune system.

Ardeniz Ö, Unger S, Onay H, Ammann S, Keck C, Cianga C, Gerçeker B, Martin B, Fuchs I, Salzer U, İkincioğulları A, Güloğlu D, Dereli T, Thimme R, Ehl S, Schwarz K, Schmitt-Graeff A, Cianga P, Fisch P, Warnatz K.

J Allergy Clin Immunol. 2015 Feb 19. pii: S0091-6749(15)00019-6. doi: 10.1016/j.jaci.2014.12.1937. [Epub ahead of print]

PMID:
25702838
6.

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
7.

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 LS, Sansom DM, Grimbacher B.

Nat Med. 2014 Dec;20(12):1410-6. doi: 10.1038/nm.3746. Epub 2014 Oct 20.

PMID:
25329329
8.

Low ficolin-2 levels in common variable immunodeficiency patients with bronchiectasis.

Metzger ML, Michelfelder I, Goldacker S, Melkaoui K, Litzman J, Guzman D, Grimbacher B, Salzer U.

Clin Exp Immunol. 2015 Feb;179(2):256-64. doi: 10.1111/cei.12459.

PMID:
25251245
9.

Direct interaction of actin filaments with F-BAR protein pacsin2.

Kostan J, Salzer U, Orlova A, Törö I, Hodnik V, Senju Y, Zou J, Schreiner C, Steiner J, Meriläinen J, Nikki M, Virtanen I, Carugo O, Rappsilber J, Lappalainen P, Lehto VP, Anderluh G, Egelman EH, Djinović-Carugo K.

EMBO Rep. 2014 Nov;15(11):1154-62. doi: 10.15252/embr.201439267. Epub 2014 Sep 12.

PMID:
25216944
10.

MiR-146a regulates the TRAF6/TNF-axis in donor T cells during GVHD.

Stickel N, Prinz G, Pfeifer D, Hasselblatt P, Schmitt-Graeff A, Follo M, Thimme R, Finke J, Duyster J, Salzer U, Zeiser R.

Blood. 2014 Oct 16;124(16):2586-95. doi: 10.1182/blood-2014-04-569046. Epub 2014 Sep 9.

PMID:
25205119
11.

Intravenous sildenafil i.v. as rescue treatment for refractory pulmonary hypertension in extremely preterm infants.

Steiner M, Salzer U, Baumgartner S, Waldhoer T, Klebermass-Schrehof K, Wald M, Langgartner M, Berger A.

Klin Padiatr. 2014 Jul;226(4):211-5. doi: 10.1055/s-0034-1375697. Epub 2014 Jul 10.

PMID:
25010126
12.

High levels of SOX5 decrease proliferative capacity of human B cells, but permit plasmablast differentiation.

Rakhmanov M, Sic H, Kienzler AK, Fischer B, Rizzi M, Seidl M, Melkaoui K, Unger S, Moehle L, Schmit NE, Deshmukh SD, Ayata CK, Schuh W, Zhang Z, Cosset FL, Verhoeyen E, Peter HH, Voll RE, Salzer U, Eibel H, Warnatz K.

PLoS One. 2014 Jun 19;9(6):e100328. doi: 10.1371/journal.pone.0100328. eCollection 2014.

13.

Sphingosine-1-phosphate receptors control B-cell migration through signaling components associated with primary immunodeficiencies, chronic lymphocytic leukemia, and multiple sclerosis.

Sic H, Kraus H, Madl J, Flittner KA, von Münchow AL, Pieper K, Rizzi M, Kienzler AK, Ayata K, Rauer S, Kleuser B, Salzer U, Burger M, Zirlik K, Lougaris V, Plebani A, Römer W, Loeffler C, Scaramuzza S, Villa A, Noguchi E, Grimbacher B, Eibel H.

J Allergy Clin Immunol. 2014 Aug;134(2):420-8. doi: 10.1016/j.jaci.2014.01.037. Epub 2014 Mar 26.

PMID:
24679343
14.

A common single nucleotide polymorphism impairs B-cell activating factor receptor's multimerization, contributing to common variable immunodeficiency.

Pieper K, Rizzi M, Speletas M, Smulski CR, Sic H, Kraus H, Salzer U, Fiala GJ, Schamel WW, Lougaris V, Plebani A, Hammarstrom L, Recher M, Germenis AE, Grimbacher B, Warnatz K, Rolink AG, Schneider P, Notarangelo LD, Eibel H.

J Allergy Clin Immunol. 2014 Apr;133(4):1222-5. doi: 10.1016/j.jaci.2013.11.021. Epub 2014 Jan 7. No abstract available. Erratum in: J Allergy Clin Immunol. 2014 Aug;134(2):495.

PMID:
24406071
15.

A feeder-free differentiation system identifies autonomously proliferating B cell precursors in human bone marrow.

Kraus H, Kaiser S, Aumann K, Bönelt P, Salzer U, Vestweber D, Erlacher M, Kunze M, Burger M, Pieper K, Sic H, Rolink A, Eibel H, Rizzi M.

J Immunol. 2014 Feb 1;192(3):1044-54. doi: 10.4049/jimmunol.1301815. Epub 2013 Dec 30.

16.

Rituximab in the treatment of refractory or relapsing eosinophilic granulomatosis with polyangiitis (Churg-Strauss syndrome).

Thiel J, Hässler F, Salzer U, Voll RE, Venhoff N.

Arthritis Res Ther. 2013 Sep 24;15(5):R133. doi: 10.1186/ar4313.

17.

Alterations of red cell membrane properties in neuroacanthocytosis.

Siegl C, Hamminger P, Jank H, Ahting U, Bader B, Danek A, Gregory A, Hartig M, Hayflick S, Hermann A, Prokisch H, Sammler EM, Yapici Z, Prohaska R, Salzer U.

PLoS One. 2013 Oct 3;8(10):e76715. doi: 10.1371/journal.pone.0076715. eCollection 2013.

18.

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

Speckmann C, Lehmberg K, Albert MH, Damgaard RB, Fritsch M, Gyrd-Hansen M, Rensing-Ehl A, Vraetz T, Grimbacher B, Salzer U, Fuchs I, Ufheil H, Belohradsky BH, Hassan A, Cale CM, Elawad M, Strahm B, Schibli S, Lauten M, Kohl M, Meerpohl JJ, Rodeck B, Kolb R, Eberl W, Soerensen J, von Bernuth H, Lorenz M, Schwarz K, Zur Stadt U, Ehl S.

Clin Immunol. 2013 Oct;149(1):133-41. doi: 10.1016/j.clim.2013.07.004. Epub 2013 Jul 31.

PMID:
23973892
19.

Heterozygous alterations of TNFRSF13B/TACI in tonsillar hypertrophy and sarcoidosis.

Speletas M, Salzer U, Florou Z, Petinaki E, Daniil Z, Bardaka F, Gourgoulianis KI, Skoulakis C, Germenis AE.

Clin Dev Immunol. 2013;2013:532437. doi: 10.1155/2013/532437. Epub 2013 Jul 15.

20.

Cartilage hair hypoplasia and celiac disease: report of an Indian girl with novel genotype.

Singh A, Krishnan R, Bhattacharya M, Pradhan G, Salzer U, Kapoor S.

Indian J Gastroenterol. 2013 Nov;32(6):409-12. doi: 10.1007/s12664-013-0358-6. Epub 2013 Aug 17.

PMID:
23949991
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