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Items: 1 to 50 of 108

1.

Unreported Missense Mutation in the Dimerization Domain of ADA2 Leads to ADA2 Deficiency Associated with Severe Oral Ulcers and Neutropenia in a Female Somalian Patient-Addendum to the Genotype-Phenotype Puzzle.

Göschl L, Winkler S, Dmytrus J, Heredia RJ, Lagler H, Ramharter M, Scheinecker C, Bonelli M, Schmetterer K, Pickl WF, Grabmeier-Pfistershammer K, Hershfield MS, Boztug K, Förster-Waldl E, Gualdoni GA.

J Clin Immunol. 2019 Nov 4. doi: 10.1007/s10875-019-00700-w. [Epub ahead of print] No abstract available.

PMID:
31686313
2.

Rheumatological manifestations in inborn errors of immunity.

Köstel Bal S, Pazmandi J, Boztug K, Özen S.

Pediatr Res. 2019 Oct 3. doi: 10.1038/s41390-019-0600-8. [Epub ahead of print] Review.

PMID:
31581173
3.

Publisher Correction: Human DEF6 deficiency underlies an immunodeficiency syndrome with systemic autoimmunity and aberrant CTLA-4 homeostasis.

Serwas NK, Hoeger B, Ardy RC, Stulz SV, Sui Z, Memaran N, Meeths M, Krolo A, Petronczki ÖY, Pfajfer L, Hou TZ, Halliday N, Santos-Valente E, Kalinichenko A, Kennedy A, Mace EM, Mukherjee M, Tesi B, Schrempf A, Pickl WF, Loizou JI, Kain R, Bidmon-Fliegenschnee B, Schickel JN, Glauzy S, Huemer J, Garncarz W, Salzer E, Pierides I, Bilic I, Thiel J, Priftakis P, Banerjee PP, Förster-Waldl E, Medgyesi D, Huber WD, Orange JS, Meffre E, Sansom DM, Bryceson YT, Altman A, Boztug K.

Nat Commun. 2019 Oct 2;10(1):4555. doi: 10.1038/s41467-019-12454-5.

4.

CD137 deficiency causes immune dysregulation with predisposition to lymphomagenesis.

Somekh I, Thian M, Medgyesi D, Gülez N, Magg T, Gallón Duque A, Stauber T, Lev A, Genel F, Unal E, Simon AJ, Lee YN, Kalinichenko A, Dmytrus J, Kraakman MJ, Schiby G, Rohlfs M, Jacobson JM, Özer E, Akcal Ö, Conca R, Patiroglu T, Karakukcu M, Ozcan A, Shahin T, Appella E, Tatematsu M, Martinez-Jaramillo C, Chinn IK, Orange JS, Trujillo-Vargas CM, Franco JL, Hauck F, Somech R, Klein C, Boztug K.

Blood. 2019 Oct 31;134(18):1510-1516. doi: 10.1182/blood.2019000644.

PMID:
31501153
5.

Polymerase δ deficiency causes syndromic immunodeficiency with replicative stress.

Conde CD, Petronczki ÖY, Baris S, Willmann KL, Girardi E, Salzer E, Weitzer S, Ardy RC, Krolo A, Ijspeert H, Kiykim A, Karakoc-Aydiner E, Förster-Waldl E, Kager L, Pickl WF, Superti-Furga G, Martínez J, Loizou JI, Ozen A, van der Burg M, Boztug K.

J Clin Invest. 2019 Oct 1;129(10):4194-4206. doi: 10.1172/JCI128903.

6.

A Spectrum of Clinical Findings from ALPS to CVID: Several Novel LRBA Defects.

Cagdas D, Halaçlı SO, Tan Ç, Lo B, Çetinkaya PG, Esenboğa S, Karaatmaca B, Matthews H, Balcı-Hayta B, Arıkoğlu T, Ezgü F, Aladağ E, Saltık-Temizel İN, Demir H, Kuşkonmaz B, Okur V, Gümrük F, Göker H, Çetinkaya D, Boztuğ K, Lenardo M, Sanal Ö, Tezcan İ.

J Clin Immunol. 2019 Oct;39(7):726-738. doi: 10.1007/s10875-019-00677-6. Epub 2019 Aug 20.

PMID:
31432443
7.

Human DEF6 deficiency underlies an immunodeficiency syndrome with systemic autoimmunity and aberrant CTLA-4 homeostasis.

Serwas NK, Hoeger B, Ardy RC, Stulz SV, Sui Z, Memaran N, Meeths M, Krolo A, Yüce Petronczki Ö, Pfajfer L, Hou TZ, Halliday N, Santos-Valente E, Kalinichenko A, Kennedy A, Mace EM, Mukherjee M, Tesi B, Schrempf A, Pickl WF, Loizou JI, Kain R, Bidmon-Fliegenschnee B, Schickel JN, Glauzy S, Huemer J, Garncarz W, Salzer E, Pierides I, Bilic I, Thiel J, Priftakis P, Banerjee PP, Förster-Waldl E, Medgyesi D, Huber WD, Orange JS, Meffre E, Sansom DM, Bryceson YT, Altman A, Boztug K.

Nat Commun. 2019 Jul 15;10(1):3106. doi: 10.1038/s41467-019-10812-x. Erratum in: Nat Commun. 2019 Oct 2;10(1):4555.

8.

Loss of the interleukin-6 receptor causes immunodeficiency, atopy, and abnormal inflammatory responses.

Spencer S, Köstel Bal S, Egner W, Lango Allen H, Raza SI, Ma CA, Gürel M, Zhang Y, Sun G, Sabroe RA, Greene D, Rae W, Shahin T, Kania K, Ardy RC, Thian M, Staples E, Pecchia-Bekkum A, Worrall WPM, Stephens J, Brown M, Tuna S, York M, Shackley F, Kerrin D, Sargur R, Condliffe A, Tipu HN, Kuehn HS, Rosenzweig SD, Turro E, Tavaré S, Thrasher AJ, Jodrell DI, Smith KGC, Boztug K, Milner JD, Thaventhiran JED.

J Exp Med. 2019 Sep 2;216(9):1986-1998. doi: 10.1084/jem.20190344. Epub 2019 Jun 24.

9.

Outcomes and Treatment Strategies for Autoimmunity and Hyperinflammation in Patients with RAG Deficiency.

Farmer JR, Foldvari Z, Ujhazi B, De Ravin SS, Chen K, Bleesing JJH, Schuetz C, Al-Herz W, Abraham RS, Joshi AY, Costa-Carvalho BT, Buchbinder D, Booth C, Reiff A, Ferguson PJ, Aghamohammadi A, Abolhassani H, Puck JM, Adeli M, Cancrini C, Palma P, Bertaina A, Locatelli F, Di Matteo G, Geha RS, Kanariou MG, Lycopoulou L, Tzanoudaki M, Sleasman JW, Parikh S, Pinero G, Fischer BM, Dbaibo G, Unal E, Patiroglu T, Karakukcu M, Al-Saad KK, Dilley MA, Pai SY, Dutmer CM, Gelfand EW, Geier CB, Eibl MM, Wolf HM, Henderson LA, Hazen MM, Bonfim C, Wolska-Kuśnierz B, Butte MJ, Hernandez JD, Nicholas SK, Stepensky P, Chandrakasan S, Miano M, Westermann-Clark E, Goda V, Kriván G, Holland SM, Fadugba O, Henrickson SE, Ozen A, Karakoc-Aydiner E, Baris S, Kiykim A, Bredius R, Hoeger B, Boztug K, Pashchenko O, Neven B, Moshous D, Villartay JP, Bousfiha AA, Hill HR, Notarangelo LD, Walter JE.

J Allergy Clin Immunol Pract. 2019 Jul - Aug;7(6):1970-1985.e4. doi: 10.1016/j.jaip.2019.02.038. Epub 2019 Mar 12.

10.

F-BAR domain only protein 1 (FCHO1) deficiency is a novel cause of combined immune deficiency in human subjects.

Calzoni E, Platt CD, Keles S, Kuehn HS, Beaussant-Cohen S, Zhang Y, Pazmandi J, Lanzi G, Pala F, Tahiat A, Artac H, Heredia RJ, Dmytrus J, Reisli I, Uygun V, Uygun D, Bingol A, Basaran E, Djenouhat K, Benhalla N, Bendahmane C, Emiroglu M, Kirchhausen T, Pasham M, Jones J, Wallace JG, Zheng L, Boisson B, Porta F, Rosenzweig SD, Su H, Giliani S, Lenardo M, Geha RS, Boztug K, Chou J, Notarangelo LD.

J Allergy Clin Immunol. 2019 Jun;143(6):2317-2321.e12. doi: 10.1016/j.jaci.2019.02.014. Epub 2019 Feb 26. No abstract available.

PMID:
30822429
11.

Activating mutations in PIK3CD disrupt the differentiation and function of human and murine CD4+ T cells.

Bier J, Rao G, Payne K, Brigden H, French E, Pelham SJ, Lau A, Lenthall H, Edwards ESJ, Smart JM, Cole TS, Choo S, Joshi AY, Abraham RS, O'Sullivan M, Boztug K, Meyts I, Gray PE, Berglund LJ, Hsu P, Wong M, Holland SM, Notarangelo LD, Uzel G, Ma CS, Brink R, Tangye SG, Deenick EK.

J Allergy Clin Immunol. 2019 Jul;144(1):236-253. doi: 10.1016/j.jaci.2019.01.033. Epub 2019 Feb 6.

PMID:
30738173
12.

Current Understanding and Future Research Priorities in Malignancy Associated With Inborn Errors of Immunity and DNA Repair Disorders: The Perspective of an Interdisciplinary Working Group.

Bomken S, van der Werff Ten Bosch J, Attarbaschi A, Bacon CM, Borkhardt A, Boztug K, Fischer U, Hauck F, Kuiper RP, Lammens T, Loeffen J, Neven B, Pan-Hammarström Q, Quinti I, Seidel MG, Warnatz K, Wehr C, Lankester AC, Gennery AR.

Front Immunol. 2018 Dec 12;9:2912. doi: 10.3389/fimmu.2018.02912. eCollection 2018. Review.

13.

Early-onset inflammatory bowel disease as a model disease to identify key regulators of immune homeostasis mechanisms.

Pazmandi J, Kalinichenko A, Ardy RC, Boztug K.

Immunol Rev. 2019 Jan;287(1):162-185. doi: 10.1111/imr.12726. Review.

PMID:
30565237
14.

The Phenotype and Treatment of WIP Deficiency: Literature Synopsis and Review of a Patient With Pre-transplant Serial Donor Lymphocyte Infusions to Eliminate CMV.

Schwinger W, Urban C, Ulreich R, Sperl D, Karastaneva A, Strenger V, Lackner H, Boztug K, Albert MH, Benesch M, Seidel MG.

Front Immunol. 2018 Nov 2;9:2554. doi: 10.3389/fimmu.2018.02554. eCollection 2018. Review.

15.

Selective loss of function variants in IL6ST cause Hyper-IgE syndrome with distinct impairments of T-cell phenotype and function.

Shahin T, Aschenbrenner D, Cagdas D, Bal SK, Conde CD, Garncarz W, Medgyesi D, Schwerd T, Karaatmaca B, Cetinkaya PG, Esenboga S, Twigg SRF, Cant A, Wilkie AOM, Tezcan I, Uhlig HH, Boztug K.

Haematologica. 2019 Mar;104(3):609-621. doi: 10.3324/haematol.2018.194233. Epub 2018 Oct 11.

16.

Systematic genetic mapping of necroptosis identifies SLC39A7 as modulator of death receptor trafficking.

Fauster A, Rebsamen M, Willmann KL, César-Razquin A, Girardi E, Bigenzahn JW, Schischlik F, Scorzoni S, Bruckner M, Konecka J, Hörmann K, Heinz LX, Boztug K, Superti-Furga G.

Cell Death Differ. 2019 Jun;26(6):1138-1155. doi: 10.1038/s41418-018-0192-6. Epub 2018 Sep 20.

17.

Two siblings with PRKDC defect who presented with cutaneous granulomas and review of the literature.

Esenboga S, Akal C, Karaatmaca B, Erman B, Dogan S, Orhan D, Boztug K, Ayvaz D, Tezcan İ.

Clin Immunol. 2018 Dec;197:1-5. doi: 10.1016/j.clim.2018.08.002. Epub 2018 Aug 16. Review.

PMID:
30121298
18.

Germline-activating mutations in PIK3CD compromise B cell development and function.

Avery DT, Kane A, Nguyen T, Lau A, Nguyen A, Lenthall H, Payne K, Shi W, Brigden H, French E, Bier J, Hermes JR, Zahra D, Sewell WA, Butt D, Elliott M, Boztug K, Meyts I, Choo S, Hsu P, Wong M, Berglund LJ, Gray P, O'Sullivan M, Cole T, Holland SM, Ma CS, Burkhart C, Corcoran LM, Phan TG, Brink R, Uzel G, Deenick EK, Tangye SG.

J Exp Med. 2018 Aug 6;215(8):2073-2095. doi: 10.1084/jem.20180010. Epub 2018 Jul 17.

19.

EBV-positive B-cell lymphoma manifestation of the liver in an infant with RAG1 severe combined immunodeficiency disease.

Maas C, Lüftinger R, Krois W, Matthes-Martin S, Bayer G, Boztug K, Metzelder M.

Pediatr Blood Cancer. 2018 Sep;65(9):e27258. doi: 10.1002/pbc.27258. Epub 2018 Jun 1. No abstract available.

PMID:
29856523
20.

Activating PIK3CD mutations impair human cytotoxic lymphocyte differentiation and function and EBV immunity.

Edwards ESJ, Bier J, Cole TS, Wong M, Hsu P, Berglund LJ, Boztug K, Lau A, Gostick E, Price DA, O'Sullivan M, Meyts I, Choo S, Gray P, Holland SM, Deenick EK, Uzel G, Tangye SG.

J Allergy Clin Immunol. 2019 Jan;143(1):276-291.e6. doi: 10.1016/j.jaci.2018.04.030. Epub 2018 May 22.

PMID:
29800648
21.

Targeted mutation screening of 292 candidate genes in 38 children with inborn haematological cytopenias efficiently identifies novel disease-causing mutations.

Kager L, Jimenez Heredia R, Hirschmugl T, Dmytrus J, Krolo A, Müller H, Bock C, Zeitlhofer P, Dworzak M, Mann G, Holter W, Haas O, Boztug K.

Br J Haematol. 2018 Jul;182(2):251-258. doi: 10.1111/bjh.15389. Epub 2018 May 24.

22.

Mutations affecting the actin regulator WD repeat-containing protein 1 lead to aberrant lymphoid immunity.

Pfajfer L, Mair NK, Jiménez-Heredia R, Genel F, Gulez N, Ardeniz Ö, Hoeger B, Bal SK, Madritsch C, Kalinichenko A, Chandra Ardy R, Gerçeker B, Rey-Barroso J, Ijspeert H, Tangye SG, Simonitsch-Klupp I, Huppa JB, van der Burg M, Dupré L, Boztug K.

J Allergy Clin Immunol. 2018 Nov;142(5):1589-1604.e11. doi: 10.1016/j.jaci.2018.04.023. Epub 2018 May 8.

23.

ADA Deficiency: Evaluation of the Clinical and Laboratory Features and the Outcome.

Cagdas D, Gur Cetinkaya P, Karaatmaca B, Esenboga S, Tan C, Yılmaz T, Gümüş E, Barış S, Kuşkonmaz B, Ozgur TT, Bali P, Santisteban I, Orhan D, Yüce A, Cetinkaya D, Boztug K, Hershfield M, Sanal O, Tezcan İ.

J Clin Immunol. 2018 May;38(4):484-493. doi: 10.1007/s10875-018-0496-9. Epub 2018 May 9.

PMID:
29744787
24.

Exome sequencing revealed C1Q homozygous mutation in Pediatric Systemic Lupus Erythematosus.

Zoghi S, Ziaee V, Hirschmugl T, Jimenez-Heredia R, Krolo A, Boztug K, Rezaei N.

Allergol Immunopathol (Madr). 2018 Nov - Dec;46(6):594-598. doi: 10.1016/j.aller.2018.02.004. Epub 2018 May 5.

PMID:
29739689
25.

Hematopoietic Stem Cell Transplantation From Unrelated Donors in 2 Cases of Interleukin-10 Receptor Deficiency: Is Surgery Not a Requirement?

Kocacik Uygun DF, Uygun V, Daloğlu H, Öztürkmen S, Karasu G, Reisli İ, Sayar E, Yüksekkaya HA, Glocker EO, Boztuğ K, Yeşilipek A.

J Pediatr Hematol Oncol. 2019 Jan;41(1):64-66. doi: 10.1097/MPH.0000000000001165.

PMID:
29683948
26.

CEBPE-Mutant Specific Granule Deficiency Correlates With Aberrant Granule Organization and Substantial Proteome Alterations in Neutrophils.

Serwas NK, Huemer J, Dieckmann R, Mejstrikova E, Garncarz W, Litzman J, Hoeger B, Zapletal O, Janda A, Bennett KL, Kain R, Kerjaschky D, Boztug K.

Front Immunol. 2018 Mar 29;9:588. doi: 10.3389/fimmu.2018.00588. eCollection 2018.

27.

Intestinal Failure and Aberrant Lipid Metabolism in Patients With DGAT1 Deficiency.

van Rijn JM, Ardy RC, Kuloğlu Z, Härter B, van Haaften-Visser DY, van der Doef HPJ, van Hoesel M, Kansu A, van Vugt AHM, Thian M, Kokke FTM, Krolo A, Başaran MK, Kaya NG, Aksu AÜ, Dalgıç B, Ozcay F, Baris Z, Kain R, Stigter ECA, Lichtenbelt KD, Massink MPG, Duran KJ, Verheij JBGM, Lugtenberg D, Nikkels PGJ, Brouwer HGF, Verkade HJ, Scheenstra R, Spee B, Nieuwenhuis EES, Coffer PJ, Janecke AR, van Haaften G, Houwen RHJ, Müller T, Middendorp S, Boztug K.

Gastroenterology. 2018 Jul;155(1):130-143.e15. doi: 10.1053/j.gastro.2018.03.040. Epub 2018 Mar 29.

28.

Novel Mutation in CECR1 Leads to Deficiency of ADA2 with Associated Neutropenia.

Cipe FE, Aydogmus C, Serwas NK, Keskindemirci G, Boztuğ K.

J Clin Immunol. 2018 Apr;38(3):273-277. doi: 10.1007/s10875-018-0487-x. Epub 2018 Mar 21.

PMID:
29564582
29.

Human NF-κB1 Haploinsufficiency and Epstein-Barr Virus-Induced Disease-Molecular Mechanisms and Consequences.

Hoeger B, Serwas NK, Boztug K.

Front Immunol. 2018 Jan 18;8:1978. doi: 10.3389/fimmu.2017.01978. eCollection 2017. Review.

30.

Mutations outside the N-terminal part of RBCK1 may cause polyglucosan body myopathy with immunological dysfunction: expanding the genotype-phenotype spectrum.

Krenn M, Salzer E, Simonitsch-Klupp I, Rath J, Wagner M, Haack TB, Strom TM, Schänzer A, Kilimann MW, Schmidt RLJ, Schmetterer KG, Zimprich A, Boztug K, Hahn A, Zimprich F.

J Neurol. 2018 Feb;265(2):394-401. doi: 10.1007/s00415-017-8710-x. Epub 2017 Dec 19.

31.

Thoracic Actinomycosis With Infiltration of the Spine: An Oncological Pitfall.

Ronceray L, Friesenbichler W, Hutter C, Lakatos K, Krizmanich W, Amann G, Boztug K, Kager L, Mann G, Attarbaschi A.

J Pediatr Hematol Oncol. 2018 Aug;40(6):468-471. doi: 10.1097/MPH.0000000000001035.

PMID:
29240031
32.

Monogenic Diabetes Not Caused By Mutations in Mody Genes: A Very Heterogenous Group of Diabetes.

Şıklar Z, de Franco E, Johnson MB, Flanagan SE, Ellard S, Ceylaner S, Boztuğ K, Doğu F, İkincioğulları A, Kuloğlu Z, Kansu A, Berberoğlu M.

Exp Clin Endocrinol Diabetes. 2018 Nov;126(10):612-618. doi: 10.1055/s-0043-120571. Epub 2017 Nov 28.

PMID:
29183106
33.

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.

34.

Multiple Presentations of LRBA Deficiency: a Single-Center Experience.

Kostel Bal S, Haskologlu S, Serwas NK, Islamoglu C, Aytekin C, Kendirli T, Kuloglu Z, Yavuz G, Dalgic B, Siklar Z, Kansu A, Ensari A, Boztug K, Dogu F, Ikinciogullari A.

J Clin Immunol. 2017 Nov;37(8):790-800. doi: 10.1007/s10875-017-0446-y. Epub 2017 Sep 27.

PMID:
28956255
35.

WIP deficiency severely affects human lymphocyte architecture during migration and synapse assembly.

Pfajfer L, Seidel MG, Houmadi R, Rey-Barroso J, Hirschmugl T, Salzer E, Antón IM, Urban C, Schwinger W, Boztug K, Dupré L.

Blood. 2017 Oct 26;130(17):1949-1953. doi: 10.1182/blood-2017-04-777383. Epub 2017 Sep 13. No abstract available.

PMID:
28903942
36.

MHC class II deficiency: Report of a novel mutation and special review.

Farrokhi S, Shabani M, Aryan Z, Zoghi S, Krolo A, Boztug K, Rezaei N.

Allergol Immunopathol (Madr). 2018 May - Jun;46(3):263-275. doi: 10.1016/j.aller.2017.04.006. Epub 2017 Jul 1. Review.

PMID:
28676232
37.

CD55 Deficiency, Early-Onset Protein-Losing Enteropathy, and Thrombosis.

Ozen A, Comrie WA, Ardy RC, Domínguez Conde C, Dalgic B, Beser ÖF, Morawski AR, Karakoc-Aydiner E, Tutar E, Baris S, Ozcay F, Serwas NK, Zhang Y, Matthews HF, Pittaluga S, Folio LR, Unlusoy Aksu A, McElwee JJ, Krolo A, Kiykim A, Baris Z, Gulsan M, Ogulur I, Snapper SB, Houwen RHJ, Leavis HL, Ertem D, Kain R, Sari S, Erkan T, Su HC, Boztug K, Lenardo MJ.

N Engl J Med. 2017 Jul 6;377(1):52-61. doi: 10.1056/NEJMoa1615887. Epub 2017 Jun 28.

38.

Variant PIK3R1 Hypermorphic Mutation and Clinical Phenotypes in a Family with Short Statures, Mild Immunodeficiency and Lymphoma.

Hauck F, Magg T, Krolo A, Bilic I, Hirschmugl T, Laass M, Rösen-Wolff A, Luksch H, Boztug K, Roesler J.

Klin Padiatr. 2017 May;229(3):113-117. doi: 10.1055/s-0043-104218. Epub 2017 May 30.

PMID:
28561224
39.

VCF.Filter: interactive prioritization of disease-linked genetic variants from sequencing data.

Müller H, Jimenez-Heredia R, Krolo A, Hirschmugl T, Dmytrus J, Boztug K, Bock C.

Nucleic Acids Res. 2017 Jul 3;45(W1):W567-W572. doi: 10.1093/nar/gkx425.

40.

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.

41.

Investigation of Genetic Defects in Severe Combined Immunodeficiency Patients from Turkey by Targeted Sequencing.

Erman B, Bilic I, Hirschmugl T, Salzer E, Boztug H, Sanal Ö, Çağdaş Ayvaz D, Tezcan I, Boztug K.

Scand J Immunol. 2017 Mar;85(3):227-234. doi: 10.1111/sji.12523.

42.

LPS-Responsive Beige-Like Anchor Gene Mutation Associated With Possible Bronchiolitis Obliterans Organizing Pneumonia Associated With Hypogammaglobulinemia and Normal IgM Phenotype and Low Number of B Cells.

Shokri S, Nabavi M, Hirschmugl T, Aghamohammadi A, Arshi S, Bemanian MH, Fallahpour M, Molatefi R, Rekabi M, Eslami N, Ahmadian J, Darabi K, Sedighi GR, Monajemzadeh M, Modaresi M, Parvaneh N, Boztug K, Rezaei N.

Acta Med Iran. 2016 Oct;54(10):620-623.

43.

RASGRP1 deficiency causes immunodeficiency with impaired cytoskeletal dynamics.

Salzer E, Cagdas D, Hons M, Mace EM, Garncarz W, Petronczki ÖY, Platzer R, Pfajfer L, Bilic I, Ban SA, Willmann KL, Mukherjee M, Supper V, Hsu HT, Banerjee PP, Sinha P, McClanahan F, Zlabinger GJ, Pickl WF, Gribben JG, Stockinger H, Bennett KL, Huppa JB, Dupré L, Sanal Ö, Jäger U, Sixt M, Tezcan I, Orange JS, Boztug K.

Nat Immunol. 2016 Dec;17(12):1352-1360. doi: 10.1038/ni.3575. Epub 2016 Oct 24.

44.

Novel AICDA mutation in a case of autosomal recessive hyper-IgM syndrome, growth hormone deficiency and autoimmunity.

Fazel A, Kashef S, Aleyasin S, Harsini S, Karamizadeh Z, Zoghi S, Flores SK, Boztug K, Rezaei N.

Allergol Immunopathol (Madr). 2017 Jan - Feb;45(1):82-86. doi: 10.1016/j.aller.2016.08.005. Epub 2016 Oct 24.

PMID:
27789066
45.

B-cell signaling in persistent polyclonal B lymphocytosis (PPBL).

Voelxen N, Wehr C, Gutenberger S, Keller B, Erlacher M, Dominguez-Conde C, Bertele D, Emmerich F, Pantic M, Jennings S, Rakhmanov M, Foerster C, Martens UM, Platzbecker U, Peter HH, Fisch P, Boztug K, Eibel H, Salzer U, Warnatz K.

Immunol Cell Biol. 2016 Oct;94(9):830-837. doi: 10.1038/icb.2016.46. Epub 2016 Apr 29.

PMID:
27126628
46.

Band 3 nullVIENNA , a novel homozygous SLC4A1 p.Ser477X variant causing severe hemolytic anemia, dyserythropoiesis and complete distal renal tubular acidosis.

Kager L, Bruce LJ, Zeitlhofer P, Flatt JF, Maia TM, Ribeiro ML, Fahrner B, Fritsch G, Boztug K, Haas OA.

Pediatr Blood Cancer. 2017 Mar;64(3). doi: 10.1002/pbc.26227. Epub 2016 Oct 8.

PMID:
27718309
47.

Early Diagnosis and Hematopoietic Stem Cell Transplantation for IL10R Deficiency Leading to Very Early-Onset Inflammatory Bowel Disease Are Essential in Familial Cases.

Karaca NE, Aksu G, Ulusoy E, Aksoylar S, Gozmen S, Genel F, Akarcan S, Gulez N, Hirschmugl T, Kansoy S, Boztug K, Kutukculer N.

Case Reports Immunol. 2016;2016:5459029. Epub 2016 Sep 6.

48.

Protein Kinase C δ: a Gatekeeper of Immune Homeostasis.

Salzer E, Santos-Valente E, Keller B, Warnatz K, Boztug K.

J Clin Immunol. 2016 Oct;36(7):631-40. doi: 10.1007/s10875-016-0323-0. Epub 2016 Aug 19. Review.

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Expanding the Interactome of the Noncanonical NF-κB Signaling Pathway.

Willmann KL, Sacco R, Martins R, Garncarz W, Krolo A, Knapp S, Bennett KL, Boztug K.

J Proteome Res. 2016 Sep 2;15(9):2900-2909. doi: 10.1021/acs.jproteome.5b01004. Epub 2016 Aug 1.

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Unique and shared signaling pathways cooperate to regulate the differentiation of human CD4+ T cells into distinct effector subsets.

Ma CS, Wong N, Rao G, Nguyen A, Avery DT, Payne K, Torpy J, O'Young P, Deenick E, Bustamante J, Puel A, Okada S, Kobayashi M, Martinez-Barricarte R, Elliott M, Sebnem Kilic S, El Baghdadi J, Minegishi Y, Bousfiha A, Robertson N, Hambleton S, Arkwright PD, French M, Blincoe AK, Hsu P, Campbell DE, Stormon MO, Wong M, Adelstein S, Fulcher DA, Cook MC, Stepensky P, Boztug K, Beier R, Ikincioğullari A, Ziegler JB, Gray P, Picard C, Boisson-Dupuis S, Phan TG, Grimbacher B, Warnatz K, Holland SM, Uzel G, Casanova JL, Tangye SG.

J Exp Med. 2016 Jul 25;213(8):1589-608. doi: 10.1084/jem.20151467. Epub 2016 Jul 11.

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