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Kaan Boztug

Kaan Boztug

Genome-Based Precision Medicine for Childhood Immune and Hematological Diseases

Publications

2021

Curation and expansion of Human Phenotype Ontology for defined groups of inborn errors of immunity.

Haimel H, Pazmandi J, Jiménez Heredia R, Dmytrus J, Köstel Bal S, Zoghi S, van Daele P, Briggs TA, Wouters C, Bader-Meunier B, Aeschlimann FA, Caorsi R, Eleftheriou D, Hoppenreijs E, Salzer E, Bakhtiar S, Derfalvi B, Saettini F, Kusters MAA, Elfeky R, Trück J, Rivière JQ, van der Burg M, Gattorno M, Seidel MG, Burns S, Warnatz K, Hauck F, Brogan P, Gilmour KC, Schuetz C, Simon A, Bock C, Hambleton S, de Vries E, Robinson PN, van Gijn M, Boztug K.
J Allergy Clin Immunol
2021

Novel Frameshift Autosomal Recessive Loss-of-Function Mutation in SMARCD2 Encoding a Chromatin Remodeling Factor Mediates Granulopoiesis.

Yucel E, Karakus IS, Krolo A, Kiykim A, Heredia RJ, Tamay Z, Cipe FE, Karakoc-Aydiner E, Ozen A, Karaman S, Boztug K, Baris S.
J Clin Immunol. 2021 Jan;41(1):59-65. doi: 10.1007/s10875-020-00878-4. Epub 2020 Oct 6.
2021

The Human Phenotype Ontology in 2021.

Köhler S, Gargano M, Matentzoglu N, Carmody LC, Lewis-Smith D, Vasilevsky NA, Danis D, Balagura G, Baynam G, Brower AM, Callahan TJ, Chute CG, Est JL, Galer PD, Ganesan S, Griese M, Haimel M, Pazmandi J, Hanauer M, Harris NL, Hartnett MJ, Hastreiter M, Hauck F, He Y, Jeske T, Kearney H, Kindle G, Klein C, Knoflach K, Krause R, Lagorce D, McMurry JA, Miller JA, Munoz-Torres MC, Peters RL, Rapp CK, Rath AM, Rind SA, Rosenberg AZ, Segal MM, Seidel MG, Smedley D, Talmy T, Thomas Y, Wiafe SA, Xian J, Yüksel Z, Helbig I, Mungall CJ, Haendel MA, Robinson PN.
Nucleic Acids Res. 2021 Jan 8;49(D1):D1207-D1217. doi: 10.1093/nar/gkaa1043.
2021

Germline IKAROS dimerization haploinsufficiency causes hematologic cytopenias and malignancies.

Kuehn HS, Niemela JE, Stoddard J, Mannurita SC, Shahin T, Goel S, Hintermeyer M, Heredia RJ, Garofalo M, Lucas L, Singh S, Tondo A, Jacobs Z, Gahl WA, Latour S, Verbsky J, Routes J, Cunningham-Rundles C, Boztug K, Gambineri E, Fleisher TA, Chandrakasan S, Rosenzweig SD.
Blood. 2021 Jan 21;137(3):349-363. doi: 10.1182/blood.2020007292.
2021

Elevated levels of tissue factor pathway inhibitor in patients with mild to moderate bleeding tendency.

Mehic D, Tolios A, Hofer S, Ay C, Haslacher H, Rejtö J, Ouwehand WH, Downes K, Haimel M, Pabinger I, Gebhart J.
Blood Adv. 2021 Jan 26;5(2):391-398. doi: 10.1182/bloodadvances.2020003464.
2021

Novel BTK mutation in X-linked agammaglobulinemia: Report of a 17-year-old male.

Shaka Z, Mojtabavi H, Rayzan E, Zoghi S, Shahkarami S, Raul JH, Sedighi I, Boztug K, Rezaei N.
Allergol Immunopathol (Madr). 2021 Mar 1;49(2):80-83. doi: 10.15586/aei.v49i2.62. eCollection 2021.
2021

Occurrence of autoimmune pancreatitis after chronic immune thrombocytopenia in a Caucasian adolescent.

Kogler H, Novak W, Vécsei A, Zachbauer C, Huber WD, Lakatos K, Woeran K, Stift J, Boztug K, Kager L.
Clin J Gastroenterol. 2021 Mar 20. doi: 10.1007/s12328-021-01383-w. Online ahead of print.
2021

Gain-of-function variants in SYK cause immune dysregulation and systemic inflammation in humans and mice.

Wang L, Aschenbrenner D, Zeng Z, Cao X, Mayr D, Mehta M, Capitani M, Warner N, Pan J, Wang L, Li Q, Zuo T, Cohen-Kedar S, Lu J, Ardy RC, Mulder DJ, Dissanayake D, Peng K, Huang Z, Li X, Wang Y, Wang X, Li S, Bullers S, Gammage AN, Warnatz K, Schiefer AI, Krivan G, Goda V, Kahr WHA, Lemaire M; Genomics England Research Consortium, Lu CY, Siddiqui I, Surette MG, Kotlarz D, Engelhardt KR, Griffin HR, Rottapel R, Decaluwe H, Laxer RM, Proietti M, Hambleton S, Elcombe S, Guo CH, Grimbacher B, Dotan I, Ng SC, Freeman SA, Snapper SB, Klein C, Boztug K, Huang Y, Li D, Uhlig HH, Muise AM.
Nat Genet. 2021 Apr;53(4):500-510. doi: 10.1038/s41588-021-00803-4. Epub 2021 Mar 29.
2021

RhoG deficiency abrogates cytotoxicity of human lymphocytes and causes hemophagocytic lymphohistiocytosis.

Kalinichenko A, Perinetti Casoni G, Dupré L, Trotta L, Huemer J, Galgano D, German Y, Haladik B, Pazmandi J, Thian M, Yüce Petronczki Ö, Chiang SC, Taskinen M, Hekkala A, Kauppila S, Lindgren O, Tapiainen T, Kraakman MJ, Vettenranta K, Lomakin AJ, Saarela J, Seppänen MRJ, Bryceson YT, Boztug K.
Blood. 2021 Apr 15;137(15):2033-2045. doi: 10.1182/blood.2020008738.
2021

The VRNetzer platform enables interactive network analysis in Virtual Reality.

Pirch S, Müller F, Iofinova E, Pazmandi J, Hütter CVR, Chiettini M, Sin C, Boztug K, Podkosova I, Kaufmann H, Menche J.
Nat Commun. 2021 Apr 23;12(1):2432. doi: 10.1038/s41467-021-22570-w.