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Items: 1 to 50 of 94

1.

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, Köstel Bal S, Domínguez Conde C, Garncarz W, Medgyesi D, Schwerd T, Karaatmaca B, Gur Cetinkaya P, Esenboga S, Twigg SRF, Cant A, Wilkie AOM, Tezcan I, Uhlig HH, Boztug K.

Haematologica. 2018 Oct 11. pii: haematol.2018.194233. doi: 10.3324/haematol.2018.194233. [Epub ahead of print]

2.

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. 2018 Sep 20. doi: 10.1038/s41418-018-0192-6. [Epub ahead of print]

PMID:
30237509
3.

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 Aug 16;197:1-5. doi: 10.1016/j.clim.2018.08.002. [Epub ahead of print]

PMID:
30121298
4.

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.

PMID:
30018075
5.

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
6.

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. 2018 May 22. pii: S0091-6749(18)30702-4. doi: 10.1016/j.jaci.2018.04.030. [Epub ahead of print]

PMID:
29800648
7.

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.

8.

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.

9.

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 9. doi: 10.1007/s10875-018-0496-9. [Epub ahead of print]

PMID:
29744787
10.

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
11.

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. 2018 Apr 20. doi: 10.1097/MPH.0000000000001165. [Epub ahead of print]

PMID:
29683948
12.

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.

13.

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.

14.

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
15.

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.

16.

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.

17.

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
18.

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
19.

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.

20.

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
21.

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.

22.

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
23.

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.

24.

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
25.

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.

26.

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.

27.

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.

28.

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.

29.

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.

PMID:
27776107
30.

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
31.

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
32.

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
33.

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.

34.

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.

35.

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.

36.

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.

37.

Severe Early-Onset Combined Immunodeficiency due to Heterozygous Gain-of-Function Mutations in STAT1.

Baris S, Alroqi F, Kiykim A, Karakoc-Aydiner E, Ogulur I, Ozen A, Charbonnier LM, Bakır M, Boztug K, Chatila TA, Barlan IB.

J Clin Immunol. 2016 Oct;36(7):641-8. doi: 10.1007/s10875-016-0312-3. Epub 2016 Jul 5.

38.

NF-κB1 Haploinsufficiency Causing Immunodeficiency and EBV-Driven Lymphoproliferation.

Boztug H, Hirschmugl T, Holter W, Lakatos K, Kager L, Trapin D, Pickl W, Förster-Waldl E, Boztug K.

J Clin Immunol. 2016 Aug;36(6):533-40. doi: 10.1007/s10875-016-0306-1. Epub 2016 Jun 23.

39.

Novel CLPB mutation in a patient with 3-methylglutaconic aciduria causing severe neurological involvement and congenital neutropenia.

Kiykim A, Garncarz W, Karakoc-Aydiner E, Ozen A, Kiykim E, Yesil G, Boztug K, Baris S.

Clin Immunol. 2016 Apr;165:1-3. doi: 10.1016/j.clim.2016.02.008. Epub 2016 Feb 23. No abstract available.

PMID:
26916670
40.

Two Novel Missense Mutations and a 5bp Deletion in the Erythroid-Specific Promoter of the PKLR Gene in Two Unrelated Patients With Pyruvate Kinase Deficient Transfusion-Dependent Chronic Nonspherocytic Hemolytic Anemia.

Kager L, Minkov M, Zeitlhofer P, Fahrner B, Ratzinger F, Boztug K, Dossenbach-Glaninger A, Haas OA.

Pediatr Blood Cancer. 2016 May;63(5):914-6. doi: 10.1002/pbc.25878. Epub 2016 Jan 5.

PMID:
26728349
41.

Immune Dysregulation Syndromes (IPEX, CD27 Deficiency, and Others): Always Doomed from the Start?

Seidel MG, Boztug K, Haas OA.

J Clin Immunol. 2016 Jan;36(1):6-7. doi: 10.1007/s10875-015-0218-5. Epub 2015 Dec 10. No abstract available.

PMID:
26661331
42.

G6PC3 Deficiency: Primary Immune Deficiency Beyond Just Neutropenia.

Kiykim A, Baris S, Karakoc-Aydiner E, Ozen AO, Ogulur I, Bozkurt S, Ataizi CC, Boztug K, Barlan IB.

J Pediatr Hematol Oncol. 2015 Nov;37(8):616-22. doi: 10.1097/MPH.0000000000000441.

PMID:
26479985
43.

INFLAMMATORY BOWEL DISEASE-LIKE PHENOTYPE IN A YOUNG GIRL WITH PROLIDASE DEFICIENCY: A NEW SPECTRUM OF CLINICAL MANIFESTATION.

Kuloglu Z, Kansu A, Serwas N, Demir A, Yaman A, Ensari A, Boztug K.

Genet Couns. 2015;26(2):205-11.

PMID:
26349190
44.

Impaired microbial killing by neutrophils from patients with protein kinase C delta deficiency.

Szilagyi K, Gazendam RP, van Hamme JL, Tool AT, van Houdt M, Vos WA, Verkuijlen P, Janssen H, Belot A, Juillard L, Förster-Waldl E, Boztug K, Kraal G, de Winther MP, Kuijpers TW, van den Berg TK.

J Allergy Clin Immunol. 2015 Nov;136(5):1404-7.e1-10. doi: 10.1016/j.jaci.2015.06.016. Epub 2015 Jul 30. No abstract available.

PMID:
26233929
45.

Potentially Beneficial Effect of Hydroxychloroquine in a Patient with a Novel Mutation in Protein Kinase Cδ Deficiency.

Kiykim A, Ogulur I, Baris S, Salzer E, Karakoc-Aydiner E, Ozen AO, Garncarz W, Hirschmugl T, Krolo A, Yucelten AD, Boztug K, Barlan IB.

J Clin Immunol. 2015 Aug;35(6):523-6. doi: 10.1007/s10875-015-0178-9. Epub 2015 Aug 2.

PMID:
26233237
46.

Trichuris suis induces human non-classical patrolling monocytes via the mannose receptor and PKC: implications for multiple sclerosis.

Kooij G, Braster R, Koning JJ, Laan LC, van Vliet SJ, Los T, Eveleens AM, van der Pol SM, Förster-Waldl E, Boztug K, Belot A, Szilagyi K, van den Berg TK, van Buul JD, van Egmond M, de Vries HE, Cummings RD, Dijkstra CD, van Die I.

Acta Neuropathol Commun. 2015 Jul 25;3:45. doi: 10.1186/s40478-015-0223-1.

47.

ITK Deficiency: How can EBV be Treated Before Lymphoma?

Cipe FE, Aydogmus C, Serwas NK, Tuğcu D, Demirkaya M, Biçici FA, Hocaoglu AB, Doğu F, Boztuğ K.

Pediatr Blood Cancer. 2015 Dec;62(12):2247-8. doi: 10.1002/pbc.25648. Epub 2015 Jul 14. No abstract available.

PMID:
26174447
48.

Monogenic mutations differentially affect the quantity and quality of T follicular helper cells in patients with human primary immunodeficiencies.

Ma CS, Wong N, Rao G, Avery DT, Torpy J, Hambridge T, Bustamante J, Okada S, Stoddard JL, Deenick EK, Pelham SJ, Payne K, Boisson-Dupuis S, Puel A, Kobayashi M, Arkwright PD, Kilic SS, El Baghdadi J, Nonoyama S, Minegishi Y, Mahdaviani SA, Mansouri D, Bousfiha A, Blincoe AK, French MA, Hsu P, Campbell DE, Stormon MO, Wong M, Adelstein S, Smart JM, Fulcher DA, Cook MC, Phan TG, Stepensky P, Boztug K, Kansu A, İkincioğullari A, Baumann U, Beier R, Roscioli T, Ziegler JB, Gray P, Picard C, Grimbacher B, Warnatz K, Holland SM, Casanova JL, Uzel G, Tangye SG.

J Allergy Clin Immunol. 2015 Oct;136(4):993-1006.e1. doi: 10.1016/j.jaci.2015.05.036. Epub 2015 Jul 7.

49.

Inherited DOCK2 Deficiency in Patients with Early-Onset Invasive Infections.

Dobbs K, Domínguez Conde C, Zhang SY, Parolini S, Audry M, Chou J, Haapaniemi E, Keles S, Bilic I, Okada S, Massaad MJ, Rounioja S, Alwahadneh AM, Serwas NK, Capuder K, Çiftçi E, Felgentreff K, Ohsumi TK, Pedergnana V, Boisson B, Haskoloğlu Ş, Ensari A, Schuster M, Moretta A, Itan Y, Patrizi O, Rozenberg F, Lebon P, Saarela J, Knip M, Petrovski S, Goldstein DB, Parrott RE, Savas B, Schambach A, Tabellini G, Bock C, Chatila TA, Comeau AM, Geha RS, Abel L, Buckley RH, İkincioğulları A, Al-Herz W, Helminen M, Doğu F, Casanova JL, Boztuğ K, Notarangelo LD.

N Engl J Med. 2015 Jun 18;372(25):2409-22. doi: 10.1056/NEJMoa1413462.

50.

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

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