Publications
2017
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.
Filter: interactive prioritization of disease-linked genetic variants from sequencing data. Nucleic Acids Res. 2017 May 17. doi: 10.1093/nar/gkx425. [Epub ahead of print]
2017
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.
2017
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). 2017 Jul 1. pii: S0301-0546(17)30077-0. doi: 10.1016/j.aller.2017.04.006. [Epub ahead of print] Review.
2017
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.
2017
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.
2017
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.
2016
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 Aug 1. [Epub ahead of print]
2016
Protein Kinase C δ: a Gatekeeper of Immune Homeostasis.
Salzer E,
Santos-Valente E,
Keller B,
Warnatz K,
Boztug K.
J Clin Immunol. 2016 Aug 19. [Epub ahead of print] Review.
2016
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). 2016 Oct 24. pii: S0301-0546(16)30116-1.
2016
Band 3 nullVIENNA , a novel homozygous SLC4A1 p.
Kager L,
Bruce LJ,
Zeitlhofer P,
Flatt JF,
Maia TM,
Ribeiro ML,
Fahrner B,
Fritsch G,
Boztug K,
Haas OA.
Ser477X variant causing severe hemolytic anemia, dyserythropoiesis and complete distal renal tubular acidosis. Pediatr Blood Cancer. 2016 Oct 8. doi: 10.1002/pbc.26227.
