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Items: 1 to 20 of 26

1.

Haematopoietic stem cell transplantation in primary immunodeficiency patients in the Black Sea Region of Turkey.

Yıldıran A, Çeliksoy MH, Borte S, Güner ŞN, Elli M, Fışgın T, Özyürek E, Sancak R, Oğur G.

Turk J Haematol. 2017 Apr 13. doi: 10.4274/tjh.2016.0477. [Epub ahead of print]

2.

Combined immunodeficiency and Epstein-Barr virus-induced B cell malignancy in humans with inherited CD70 deficiency.

Abolhassani H, Edwards ES, Ikinciogullari A, Jing H, Borte S, Buggert M, Du L, Matsuda-Lennikov M, Romano R, Caridha R, Bade S, Zhang Y, Frederiksen J, Fang M, Bal SK, Haskologlu S, Dogu F, Tacyildiz N, Matthews HF, McElwee JJ, Gostick E, Price DA, Palendira U, Aghamohammadi A, Boisson B, Rezaei N, Karlsson AC, Lenardo MJ, Casanova JL, Hammarström L, Tangye SG, Su HC, Pan-Hammarström Q.

J Exp Med. 2017 Jan;214(1):91-106. doi: 10.1084/jem.20160849. Epub 2016 Dec 23.

PMID:
28011864
3.

Newborn Screening for Severe Primary Immunodeficiency Diseases in Sweden-a 2-Year Pilot TREC and KREC Screening Study.

Barbaro M, Ohlsson A, Borte S, Jonsson S, Zetterström RH, King J, Winiarski J, von Döbeln U, Hammarström L.

J Clin Immunol. 2017 Jan;37(1):51-60. doi: 10.1007/s10875-016-0347-5. Epub 2016 Nov 21.

4.

The Extended Clinical Phenotype of 26 Patients with Chronic Mucocutaneous Candidiasis due to Gain-of-Function Mutations in STAT1.

Depner M, Fuchs S, Raabe J, Frede N, Glocker C, Doffinger R, Gkrania-Klotsas E, Kumararatne D, Atkinson TP, Schroeder HW Jr, Niehues T, Dückers G, Stray-Pedersen A, Baumann U, Schmidt R, Franco JL, Orrego J, Ben-Shoshan M, McCusker C, Jacob CM, Carneiro-Sampaio M, Devlin LA, Edgar JD, Henderson P, Russell RK, Skytte AB, Seneviratne SL, Wanders J, Stauss H, Meyts I, Moens L, Jesenak M, Kobbe R, Borte S, Borte M, Wright DA, Hagin D, Torgerson TR, Grimbacher B.

J Clin Immunol. 2016 Jan;36(1):73-84. doi: 10.1007/s10875-015-0214-9. Epub 2015 Nov 25.

5.

A New IL-2RG Gene Mutation in an X-linked SCID Identified through TREC/KREC Screening: a Case Report.

Nourizadeh M, Borte S, Fazlollahi MR, Hammarström L, Pourpak Z.

Iran J Allergy Asthma Immunol. 2015 Aug;14(4):457-61.

6.

Prospective neonatal screening for severe T- and B-lymphocyte deficiencies in Seville.

de Felipe B, Olbrich P, Lucenas JM, Delgado-Pecellin C, Pavon-Delgado A, Marquez J, Salamanca C, Soler-Palacin P, Gonzalez-Granado LI, Antolin LF, Borte S, Neth O.

Pediatr Allergy Immunol. 2016 Feb;27(1):70-7. doi: 10.1111/pai.12501. Epub 2015 Nov 23.

PMID:
26498110
7.

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
8.

Novel mutations in TNFRSF7/CD27: Clinical, immunologic, and genetic characterization of human CD27 deficiency.

Alkhairy OK, Perez-Becker R, Driessen GJ, Abolhassani H, van Montfrans J, Borte S, Choo S, Wang N, Tesselaar K, Fang M, Bienemann K, Boztug K, Daneva A, Mechinaud F, Wiesel T, Becker C, Dückers G, Siepermann K, van Zelm MC, Rezaei N, van der Burg M, Aghamohammadi A, Seidel MG, Niehues T, Hammarström L.

J Allergy Clin Immunol. 2015 Sep;136(3):703-712.e10. doi: 10.1016/j.jaci.2015.02.022. Epub 2015 Apr 3.

PMID:
25843314
9.

c.761C>T Mutation Linked Hyper IgM Syndrome Presenting with Hypertransaminasemia and Arthritis.

Celiksoy MH, Borte S, İkincioğulları A, Bilgici MC, Karagöz F, Kalaycı AG, Yıldıran A.

Turk J Haematol. 2014 Dec 5;31(4):420-1. doi: 10.4274/tjh.2014.0081. No abstract available.

10.

RAC2 loss-of-function mutation in 2 siblings with characteristics of common variable immunodeficiency.

Alkhairy OK, Rezaei N, Graham RR, Abolhassani H, Borte S, Hultenby K, Wu C, Aghamohammadi A, Williams DA, Behrens TW, Hammarström L, Pan-Hammarström Q.

J Allergy Clin Immunol. 2015 May;135(5):1380-4.e1-5. doi: 10.1016/j.jaci.2014.10.039. Epub 2014 Dec 12. No abstract available.

11.

Newborn screening for severe T and B cell lymphopenia identifies a fraction of patients with Wiskott-Aldrich syndrome.

Borte S, Fasth A, von Döbeln U, Winiarski J, Hammarström L.

Clin Immunol. 2014 Nov;155(1):74-8. doi: 10.1016/j.clim.2014.09.003. Epub 2014 Sep 15.

PMID:
25217881
12.

Novel NLRP12 mutations associated with intestinal amyloidosis in a patient diagnosed with common variable immunodeficiency.

Borte S, Celiksoy MH, Menzel V, Ozkaya O, Ozen FZ, Hammarström L, Yildiran A.

Clin Immunol. 2014 Oct;154(2):105-11. doi: 10.1016/j.clim.2014.07.003. Epub 2014 Jul 23.

PMID:
25064839
13.

Combined newborn screening for familial hemophagocytic lymphohistiocytosis and severe T- and B-cell immunodeficiencies.

Borte S, Meeths M, Liebscher I, Krist K, Nordenskjöld M, Hammarström L, von Döbeln U, Henter JI, Bryceson YT.

J Allergy Clin Immunol. 2014 Jul;134(1):226-8. doi: 10.1016/j.jaci.2014.04.026. Epub 2014 May 29. No abstract available.

PMID:
24882743
14.

Novel diagnostic options for immunodeficiencies.

Sack U, Boldt A, Borte M, Borte S.

Clin Biochem. 2014 Jun;47(9):724-5. doi: 10.1016/j.clinbiochem.2014.05.029. Epub 2014 May 20. No abstract available.

PMID:
24854698
15.

Diagnosis of immunodeficiency caused by a purine nucleoside phosphorylase defect by using tandem mass spectrometry on dried blood spots.

la Marca G, Canessa C, Giocaliere E, Romano F, Malvagia S, Funghini S, Moriondo M, Valleriani C, Lippi F, Ombrone D, Della Bona ML, Speckmann C, Borte S, Brodszki N, Gennery AR, Weinacht K, Celmeli F, Pagel J, de Martino M, Guerrini R, Wittkowski H, Santisteban I, Bali P, Ikinciogullari A, Hershfield M, Notarangelo LD, Resti M, Azzari C.

J Allergy Clin Immunol. 2014 Jul;134(1):155-9. doi: 10.1016/j.jaci.2014.01.040. Epub 2014 Apr 24.

PMID:
24767876
16.

Retrospective analysis of TREC based newborn screening results and clinical phenotypes in infants with the 22q11 deletion syndrome.

Lingman Framme J, Borte S, von Döbeln U, Hammarström L, Oskarsdóttir S.

J Clin Immunol. 2014 May;34(4):514-9. doi: 10.1007/s10875-014-0002-y. Epub 2014 Mar 9.

PMID:
24610337
17.

Clinical picture and treatment of 2212 patients with common variable immunodeficiency.

Gathmann B, Mahlaoui N; CEREDIH., Gérard L, Oksenhendler E, Warnatz K, Schulze I, Kindle G, Kuijpers TW; Dutch WID., van Beem RT, Guzman D, Workman S, Soler-Palacín P, De Gracia J, Witte T, Schmidt RE, Litzman J, Hlavackova E, Thon V, Borte M, Borte S, Kumararatne D, Feighery C, Longhurst H, Helbert M, Szaflarska A, Sediva A, Belohradsky BH, Jones A, Baumann U, Meyts I, Kutukculer N, Wågström P, Galal NM, Roesler J, Farmaki E, Zinovieva N, Ciznar P, Papadopoulou-Alataki E, Bienemann K, Velbri S, Panahloo Z, Grimbacher B; European Society for Immunodeficiencies Registry Working Party..

J Allergy Clin Immunol. 2014 Jul;134(1):116-26. doi: 10.1016/j.jaci.2013.12.1077. Epub 2014 Feb 28.

PMID:
24582312
18.

Eight-color immunophenotyping of T-, B-, and NK-cell subpopulations for characterization of chronic immunodeficiencies.

Boldt A, Borte S, Fricke S, Kentouche K, Emmrich F, Borte M, Kahlenberg F, Sack U.

Cytometry B Clin Cytom. 2014 May;86(3):191-206. doi: 10.1002/cyto.b.21162. Epub 2014 Jan 31.

19.

Deficiency of innate and acquired immunity caused by an IKBKB mutation.

Pannicke U, Baumann B, Fuchs S, Henneke P, Rensing-Ehl A, Rizzi M, Janda A, Hese K, Schlesier M, Holzmann K, Borte S, Laux C, Rump EM, Rosenberg A, Zelinski T, Schrezenmeier H, Wirth T, Ehl S, Schroeder ML, Schwarz K.

N Engl J Med. 2013 Dec 26;369(26):2504-14. doi: 10.1056/NEJMoa1309199.

20.

Impact of Down syndrome on the performance of neonatal screening assays for severe primary immunodeficiency diseases.

Verstegen RH, Borte S, Bok LA, van Zwieten PH, von Döbeln U, Hammarström L, de Vries E.

J Allergy Clin Immunol. 2014 Apr;133(4):1208-11. doi: 10.1016/j.jaci.2013.10.010. Epub 2013 Dec 9. No abstract available.

PMID:
24332217

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