Bianca Tesi

Publications
CV
Public outreach and news

Articles

Article: CLINICAL CANCER RESEARCH. 2025
Validation of guidelines for genetic investigation of myeloid neoplasms with germline predisposition: results from a prospective cohort study.
Tesi B; Robelius A; Baskin B; Lazarevic V; Deneberg S; Höglund M; Fogelstrand L; Ungerstedt J; Pandzic T; Tobiasson M; Garelius HG; Kuchinskaya E; Persson F; Ågerstam H; Hallböök H; Fioretos T; Nordin J; Norberg A; Thuresson A-C; Lehmann S; Ladenvall C; Barbany G; Vennström L; Ejerblad E; Cavelier L; Cammnega J; Jädersten M; Hellström-Lindberg E; Baliakas P
Article: PRECISION ONCOGENOMICS. 2024;1(1):1-7
Overcoming Brigatinib Resistance with Lorlatinib in Pediatric ALK Positive Anaplastic Large Cell Lymphoma with Acquired ALK p.F1174V Mutation – a Case Report
Wessman S; Mogensen N; Ranta S; Saft L; von Bahr Greenwood T; Tesi B; De Ståhl TD; Baecklund F
Article: AMERICAN JOURNAL OF CASE REPORTS. 2024;25:e945715
Pediatric Soft Tissue Sarcoma in Limb-Girdle Muscular Dystrophy: Molecular Findings and Clinical Implications
Maya-Gonzalez C; De Stahl TD; Wessman S; Taylan F; Tesi B; Lagerstedt-Robinson K; Tettamanti G; Dukic M; Poluha A; Ljungman G; Nordgren A
Article: AMERICAN JOURNAL OF MEDICAL GENETICS PART A. 2024;194(12):e63812
Occurrence of cancer in Marfan syndrome: Report of two patients with neuroblastoma and review of the literature
Maya-Gonzalez C; Delgado-Vega AM; Taylan F; Robinson KL; Hansson L; Pal N; Fagman H; Puls F; Wessman S; Stenman J; Georgantzi K; Fransson S; De Stahl TD; Ek T; Palmer R; Tesi B; Kogner P; Martinsson T; Nordgren A
Article: EUROPEAN JOURNAL OF HUMAN GENETICS. 2024;33(5):580-587
Identification of biallelic POLA2 variants in two families with an autosomal recessive telomere biology disorder
Kvarnung M; Pettersson M; Chun-on P; Rafati M; Mcreynolds LJ; Norberg A; Moura PL; Pesonen I; Chaireti R; Soderholm BG; Burlin J; Ryden J; Lindberg EH; Giri N; Savage SA; Agarwal S; Nordgren A; Tesi B
Article: BLOOD. 2024;144(8):873-887
Efficacy of T-cell assays for the diagnosis of primary defects in cytotoxic lymphocyte exocytosis
Chiang SCC; Covill LE; Tesi B; Campbell TM; Schlums H; Nejati-Zendegani J; Mordrup K; Wood S; Theorell J; Sekine T; Al-Herz W; Akar HH; Belen FB; Chan MY; Devecioglu O; Aksu T; Ifversen M; Malinowska I; Sabel M; Unal E; Unal S; Introne WJ; Krzewski K; Gilmour KC; Ehl S; Ljunggren H-G; Nordenskjold M; Horne A; Henter J-I; Meeths M; Bryceson YT
Article: LANCET REGIONAL HEALTH-EUROPE. 2024;39:100881
Diagnostic yield and clinical impact of germline sequencing in children with CNS and extracranial solid tumors - a nationwide, prospective Swedish study
Tesi B; Robinson KL; Abel F; Stahl TDD; Orrsjoe S; Poluha A; Hellberg M; Wessman S; Samuelsson S; Frisk T; Vogt H; Henning K; Sabel M; Ek T; Pal N; Nyman P; Giraud G; Wille J; Pronk CJ; Noren-Nystroem U; Borssen M; Fili M; Stalhammar G; Herold N; Tettamanti G; Maya-Gonzalez C; Arvidsson L; Rosen A; Ekholm K; Kuchinskaya E; Hallbeck A-L; Nordling M; Palmebaeck P; Kogner P; Smoler GK; Laehteenmaeki P; Fransso S; Martinsson T; Shamik A; Mertens F; Rosenquist R; Wirta V; Tham E; Grillner P; Sandgren J; Ljungman G; Gisselsson D; Taylan F; Nordgren A
Article: HELIYON. 2024;10(4):e26073
The clinical spectrum of ataxia telangiectasia in a cohort in Sweden
Lindahl H; Svensson E; Danielsson A; Puschmann A; Svenningson P; Tesi B; Paucar M
Article: JOURNAL OF MEDICAL GENETICS. 2024;61(2):150-154
Integrating a Polygenic Risk Score into a clinical setting would impact risk predictions in familial breast cancer
Baliakas P; Munters AR; Kampe A; Tesi B; Bondeson M-L; Ladenvall C; Eriksson D
Article: CLINICAL CANCER RESEARCH. 2023;29(20):4256-4267
Integrated Genomic and Transcriptomic Analysis Improves Disease Classification and Risk Stratification of MDS with Ring Sideroblasts
Todisco G; Creignou M; Bernard E; Bjorklund A-C; Moura PL; Tesi B; Mortera-Blanco T; Sander B; Jansson M; Walldin G; Barbosa I; Reinsbach SE; Hofman IJ; Nilsson C; Yoshizato T; Dimitriou M; Chang D; Olafsdottir S; Larsson SV; Tobiasson M; Malcovati L; Woll P; Jacobsen SEW; Papaemmanuil E; Hellstroem-Lindberg E
Article: BLOOD. 2023;141(23):2853-2866
The clinical picture of ERCC6L2 disease: from bone marrow failure to acute leukemia
Hakkarainen M; Kaaja I; Douglas SPM; Vulliamy T; Dokal I; Soulier J; Larcher L; de Latour RP; Leblanc T; de Fontbrune FS; Siitonen T; Lohi O; Hellstrom-Lindberg E; Barbany G; Tesi B; Shimamura A; Beier F; Jackson S; Kuperman AA; Zaccai TF; Tamary H; Mecucci C; Capolsini I; Jahnukainen K; Salmenniemi U; Niinimaki R; Varilo T; Kilpivaara O; Wartiovaara-Kautto U
Article: JCO PRECISION ONCOLOGY. 2023;7:e2300039
Diagnostic Yield From a Nationwide Implementation of Precision Medicine for all Children With Cancer
Wadensten E; Wessman S; Abel F; De Stahl TD; Tesi B; Pietras CO; Arvidsson L; Taylan F; Fransson S; Vogt H; Poluha A; Pradhananga S; Hellberg M; Lagerstedt-Robinson K; Raj Somarajan P; Samuelsson S; Orrsjo S; Maqbool K; Henning K; Strid T; Ek T; Fagman H; Bontell TO; Martinsson T; Puls F; Kogner P; Wirta V; Pronk CJ; Wille J; Rosenquist R; Nister M; Mertens F; Sabel M; Noren-Nystrom U; Grillner P; Nordgren A; Ljungman G; Sandgren J; Gisselsson D
Article: JNCI-JOURNAL OF THE NATIONAL CANCER INSTITUTE. 2023;115(1):93-103
Cancer risks by sex and variant type in PTEN hamartoma tumor syndrome
Hendricks LAJ; Hoogerbrugge N; Mensenkamp AR; Brunet J; Lleuger-Pujol R; Hoberg-Vetti H; Tveit Haavind M; Innella G; Turchetti D; Aretz S; Spier I; Tischkowitz M; Jahn A; Links TP; Olderode-Berends MJW; Blatnik A; Leter EM; Evans DG; Woodward ER; Steinke-Lange V; Anastasiadou VC; Colas C; Villy M-C; Benusiglio PR; Gerasimenko A; Barili V; Branchaud M; Houdayer C; Tesi B; Yazicioglu MO; van der Post RS; Schuurs-Hoeijmakers JHM; Vos JR; van Hest LP; Adank MA; Duijkers F; Nielsen M; Verbeek KCJ; van Ierland Y; Giltay JC
Article: FRONTIERS IN MEDICINE. 2023;10:1172565
Register-based and genetic studies of Prader-Willi syndrome show a high frequency of gonadal tumors and a possible mechanism for tumorigenesis through imprinting relaxation
Maya-Gonzalez C; Wessman S; Lagerstedt-Robinson K; Taylan F; Tesi B; Kuchinskaya E; McCluggage WG; Poluha A; Holm S; Nergardh R; De Stahl TD; Hoybye C; Tettamanti G; Delgado-Vega AM; Skarin Nordenvall A; Nordgren A
Article: EUROPEAN JOURNAL OF MEDICAL GENETICS. 2022;65(12):104632
Genotype-phenotype associations in a large PTEN Hamartoma Tumor Syndrome (PHTS) patient cohort
Hendricks LAJ; Hoogerbrugge N; Venselaar H; Aretz S; Spier I; Legius E; Brems H; de Putter R; Claes KBM; Evans G; Woodward ER; Genuardi M; Brugnoletti F; van Ierland Y; Dijke K; Tham E; Tesi B; Schuurs-Hoeijmakers JHM; Branchaud M; Salvador H; Jahn A; Schnaiter S; Anastasiadou VC; Brunet J; Oliveira C; Roht L; Blatnik A; Irmejs A; Mensenkamp AR; Vos JR
Article: GENETICS IN MEDICINE. 2022;24(11):2296-2307
Genome sequencing is a sensitive first-line test to diagnose individuals with intellectual disability
Lindstrand A; Ek M; Kvarnung M; Anderlid B-M; Bjoerck E; Carlsten J; Eisfeldt J; Grigelioniene G; Gustavsson P; Hammarsjoe A; Helgadottir HT; Hellstroem-Pigg M; Kuchinskaya E; Lagerstedt-Robinson K; Levin L-A; Lieden A; Lindeloef H; Malmgren H; Nilsson D; Svensson E; Paucar M; Sahlin E; Tesi B; Tham E; Winberg J; Winerdal M; Wincent J; Soller MJ; Pettersson M; Nordgren A
Article: LAKARTIDNINGEN. 2022;119:22024
[Two cases of VEXAS syndrome].
Gunnarsson K; Vivar Pomiano N; Tesi B; Tobiasson M; Creignou M; Ungerstedt J
Article: MOLECULAR GENETICS & GENOMIC MEDICINE. 2022;10(4):e1880
Detection of germline mosaicism in fathers of children with intellectual disability syndromes caused by de novo variants
Frisk S; Wachtmeister A; Laurell T; Lindstrand A; Jantti N; Malmgren H; Lagerstedt-Robinson K; Tesi B; Taylan F; Nordgren A
Article: JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY. 2022;149(1):388-399.e4
Rubella vaccine-induced granulomas are a novel phenotype with incomplete penetrance of genetic defects in cytotoxicity
Gross M; Speckmann C; May A; Gajardo-Carrasco T; Wustrau K; Maier SL; Panning M; Huzly D; Agaimy A; Bryceson YT; Choo S; Chow CW; Dueckers G; Fasth A; Fraitag S; Graewe K; Haxelmans S; Holzinger D; Hudowenz O; Huebschen JM; Khurana C; Kienle K; Klifa R; Korn K; Kutzner H; Laemmermann T; Ledig S; Lipsker D; Meeths M; Naumann-Bartsch N; Rascon J; Schaenzer A; Seidl M; Tesi B; Vauloup-Fellous C; Vollmer-Kary B; Warnatz K; Wehr C; Neven B; Vargas P; Sepulveda FE; Lehmberg K; Schmitt-Graeff A; Ehl S
Article: NEUROLOGY-GENETICS. 2021;7(6):e628
Adult-Onset Ataxia With Neuropathy and White Matter Abnormalities Due to a Novel SAMD9L Variant.
Paucar M; Tesi B; Eshtad S; Eriksson C; Hashim F; Nilsson D; Pourhamidi K; Hellström-Lindberg E; Bryceson YT; Svenningsson P
Article: ARCHIVUM IMMUNOLOGIAE ET THERAPIAE EXPERIMENTALIS. 2021;69(1):31
Molecular Genetics Diversity of Primary Hemophagocytic Lymphohistiocytosis among Polish Pediatric Patients
Babol-Pokora K; Wolowiec M; Popko K; Jaworowska A; Bryceson YT; Tesi B; Henter J-I; Mlynarski W; Badowska W; Balwierz W; Drabko K; Kalwak K; Maciejka-Kemblowska L; Pieczonka A; Sobol-Milejska G; Koltan S; Malinowska I
Article: EUROPEAN JOURNAL OF ANAESTHESIOLOGY. 2021;38(7):692-701
Clinical and laboratory signs of haemophagocytic lymphohistiocytosis associated with pandemic influenza A (H1N1) infection in patients needing extracorporeal membrane oxygenation A retrospective observational study
Greenwood TVB; Holzgraefe B; Chiang SCC; Wang Y; Tesi B; Bryceson YT; Henter J-I
Article: ACTA PAEDIATRICA. 2021;110(4):1315-1321
Patients with both Langerhans cell histiocytosis and Crohn's disease highlight a common role of interleukin-23
Kvedaraite E; Lourda M; Han H; Tesi B; Mitchell J; Idestrom M; Mouratidou N; Rassidakis G; Greenwood TVB; Cohen-Aubart F; Jadersten M; Akefeldt SO; Svensson M; Kannourakis G; Bryceson YT; Haroche J; Henter J-I
Article: GENOME MEDICINE. 2021;13(1):40
Integration of whole genome sequencing into a healthcare setting: high diagnostic rates across multiple clinical entities in 3219 rare disease patients
Stranneheim H; Lagerstedt-Robinson K; Magnusson M; Kvarnung M; Nilsson D; Lesko N; Engvall M; Anderlid B-M; Arnell H; Johansson CB; Barbaro M; Bjorck E; Bruhn H; Eisfeldt J; Freyer C; Grigelioniene G; Gustavsson P; Hammarsjo A; Hellstrom-Pigg M; Iwarsson E; Jemt A; Laaksonen M; Enoksson SL; Malmgren H; Naess K; Nordenskjold M; Oscarson M; Pettersson M; Rasi C; Rosenbaum A; Sahlin E; Sardh E; Stodberg T; Tesi B; Tham E; Thonberg H; Tohonen V; von Dobeln U; Vassiliou D; Vonlanthen S; Wikstrom A-C; Wincent J; Winqvist O; Wredenberg A; Ygberg S; Zetterstrom RH; Marits P; Soller MJ; Nordgren A; Wirta V; Lindstrand A; Wedell A
Article: NEUROLOGY-GENETICS. 2020;6(6):e526
Heterozygous variants in DCC: Beyond congenital mirror movements
Thams S; Islam M; Lindefeldt M; Nordgren A; Granberg T; Tesi B; Barbany G; Nilsson D; Paucar M
Article: PEDIATRIC BLOOD & CANCER. 2020;67(4):e28184
Diagnostic challenges for a novel SH2D1A mutation associated with X-linked lymphoproliferative disease
Torralba-Raga L; Tesi B; Chiang SCC; Schlums H; Nordenskjoeld M; Horne A; Henter J-I; Meeths M; Abdelhaleem M; Weitzman S; Bryceson Y
Article: FRONTIERS IN IMMUNOLOGY. 2020;11:1154
Alternative UNC13D Promoter Encodes a Functional Munc13-4 Isoform Predominantly Expressed in Lymphocytes and Platelets
Galgano D; Soheili T; Voss M; Torralba-Raga L; Tesi B; Cichocki F; Andre I; Rettig J; Cavazzana M; Bryceson Y
Article: MINERVA ANESTESIOLOGICA. 2019;85(12):1289-1298
Elevated ferritin and soluble CD25 in critically ill patients are associated with parameters of (hyper) inflammation and lymphocyte cytotoxicity
von Bahr Greenwood T; Palmkvist-Kaijser K; Chiang SC; Tesi B; Bryceson YT; Hjelmqvist H; Henter J-I
Article: CLINICAL GENETICS. 2019;96(2):118-125
Early activating somatic PIK3CA mutations promote ectopic muscle development and upper limb overgrowth
Frisk S; Taylan F; Blaszczyk I; Nennesmo I; Anneren G; Herm B; Stattin E-L; Zachariadis V; Lindstrand A; Tesi B; Laurell T; Nordgren A
Article: NATURE COMMUNICATIONS. 2019;10(1):3106
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 OY; Pfajfer L; Hou TZ; Halliday N; Santos-Valente E; Kalinichenko A; Kennedy A; Mace EM; Mukherjee M; Tesi B; Schrempf A; Loizou JI; Kain R; Bidmon-Fliegenschnee B; Schickel J-N; Glauzy S; Huemer J; Garncarz W; Salzer E; Pierides I; Bilic I; Thiel J; Priftakis P; Banerjee PP; Foerster-Waldl E; Medgyesi D; Huber W-D; Orange JS; Meffre E; Sansom DM; Bryceson YT; Altman A; Boztug K
Article: CANCER. 2019;125(11):1848-1854
Haploinsufficiency of UNC13D increases the risk of lymphoma
Lofstedt A; Ahlm C; Tesi B; Bergdahl IA; Nordenskjold M; Bryceson YT; Henter J-I; Meeths M
Article: PEDIATRIC INFECTIOUS DISEASE JOURNAL. 2019;38(2):e29-e31
Fatal Central Nervous System Lymphocytic Vasculitis after Treatment for Burkitt Lymphoma in a Patient with a SH2D1A Mutation
Neves JF; Raga LT; Chiang SCC; Tesi B; Vieira JP; Cordeiro AI; Borrego L; Bryceson YT
Article: JOURNAL OF EXPERIMENTAL MEDICINE. 2018;215(9):2379-2395
ARID5B regulates metabolic programming in human adaptive NK cells
Cichocki F; Wu C-Y; Zhang B; Felices M; Tesi B; Tuininga K; Dougherty P; Taras E; Hinderlie P; Blazar BR; Bryceson YT; Miller JS
Article: JOURNAL OF PEDIATRIC HEMATOLOGY ONCOLOGY. 2017;39(6):e321-e324
A Case of Familial Hemophagocytic Lymphohistiocytosis Type 4 With Involvement of the Central Nervous System Complicated With Infarct
Ciraci S; Ozcan A; Ozdemir MM; Chiang SCC; Tesi B; Ozdemir AM; Karakukcu M; Patiroglu T; Acipayam C; Doganay S; Gumus H; Unal E
Article: BLOOD. 2017;129(16):2266-2279
Gain-of-function SAMD9L mutations cause a syndrome of cytopenia, immunodeficiency, MDS, and neurological symptoms
Tesi B; Davidsson J; Voss M; Rahikkala E; Holmes TD; Chiang SCC; Komulainen-Ebrahim J; Gorcenco S; Nilsson AR; Ripperger T; Kokkonen H; Bryder D; Fioretos T; Henter J-I; Mottonen M; Niinimaki R; Nilsson L; Pronk CJ; Puschmann A; Qian H; Uusimaa J; Moilanen J; Tedgard U; Cammenga J; Bryceson YT
Article: NATURE MEDICINE. 2017;23(2):256-263
Targeting SAMHD1 with the Vpx protein to improve cytarabine therapy for hematological malignancies
Herold N; Rudd SG; Ljungblad L; Sanjiv K; Myrberg IH; Paulin CBJ; Heshmati Y; Hagenkort A; Kutzner J; Paget BDG; Calderon-Montano JM; Loseva O; Jemth A-S; Bulli L; Axelsson H; Tesi B; Valerie NCK; Hoglund A; Bladh J; Wiita E; Sundin M; Uhlin M; Rassidakis G; Heyman M; Tamm KP; Warpman-Berglund U; Walfridsson J; Lehmann S; Grander D; Lundback T; Kogner P; Henter J-I; Helleday T; Schaller T
Article: FRONTIERS IN IMMUNOLOGY. 2017;8:426
Differences in Granule Morphology yet Equally Impaired Exocytosis among Cytotoxic T Cells and NK Cells from Chediak-Higashi Syndrome Patients
Chiang SCC; Wood SM; Tesi B; Akar HH; Al-Herz W; Ammann S; Belen FB; Caliskan U; Kaya Z; Lehmberg K; Patiroglu T; Tokgoz H; Unuvar A; Introne WJ; Henter J-I; Nordenskjold M; Ljunggren H-G; Meeths M; Ehl S; Krzewski K; Bryceson YT
Article: FRONTIERS IN IMMUNOLOGY. 2017;8:723
Unperturbed cytotoxic lymphocyte Phenotype and Function in Myalgic encephalomyelitis/chronic Fatigue syndrome Patients
Theorell J; Bileviciute-Ljungar I; Tesi B; Schlums H; Johnsgaard MS; Asadi-Azarbaijani B; Strand EB; Bryceson YT
Article: TURKISH JOURNAL OF HEMATOLOGY. 2016;32(4):355-358
A Hemophagocytic Lymphohistiocytosis Case with Newly Defined UNC13D (c.175G>C; p.Ala59Pro) Mutation and a Rare Complication
Balci YI; Akpinar FO; Polat A; Kenar F; Tesi B; Greenwood T; Yalcin N; Kocyigit A
Article: JOURNAL OF CLINICAL IMMUNOLOGY. 2016;36(5):480-489
Successful Hematopoietic Stem Cell Transplantation in a Patient with LPS-Responsive Beige-Like Anchor (LRBA) Gene Mutation
Tesi B; Priftakis P; Lindgren F; Chiang SCC; Kartalis N; Lofstedt A; Lorinc E; Henter J-I; Winiarski J; Bryceson YT; Meeths M
Article: GENETIC COUNSELING. 2016;27(1):67-76
PARTIAL OCULOCUTANEOUS ALBINISM AND IMMUNODEFICIENCY SYNDROMES: TEN YEARS EXPERIENCE FROM A SINGLE CENTER IN TURKEY
Patiroglu T; Akar HH; Unal E; Chiang SC; Schlums H; Tesi B; Ozkars MY; Karakukcu M
Article: GENOME MEDICINE. 2015;7:130
Targeted high-throughput sequencing for genetic diagnostics of hemophagocytic lymphohistiocytosis
Tesi B; Lagerstedt-Robinson K; Chiang SCC; Ben Bdira E; Abboud M; Belen B; Devecioglu O; Fadoo Z; Yeoh AEJ; Erichsen HC; Mottonen M; Akar HH; Hastbacka J; Kaya Z; Nunes S; Patiroglu T; Sabel M; Saribeyoglu ET; Tvedt TH; Unal E; Unal S; Unuvar A; Meeths M; Henter J-I; Nordenskjold M; Bryceson YT
Article: PEDIATRIC BLOOD & CANCER. 2015;62(12):2094-2100
Spectrum of Atypical Clinical Presentations in Patients With Biallelic PRF1 Missense Mutations
Tesi B; Chiang SCC; El-Ghoneimy D; Hussein AA; Langenskiold C; Wali R; Fadoo Z; Silva JP; Lecumberri R; Unal S; Nordenskjold M; Bryceson YT; Henter J-I; Meeths M
Article: HAEMATOLOGICA. 2015;100(7):978-988
The syndrome of hemophagocytic lymphohistiocytosis in primary immunodeficiencies: implications for differential diagnosis and pathogenesis
Bode SFN; Ammann S; Al-Herz W; Bataneant M; Dvorak CC; Gehring S; Gennery A; Gilmour KC; Gonzalez-Granado LI; Gross-Wieltsch U; Ifversen M; Lingman-Framme J; Matthes-Martin S; Mesters R; Meyts I; van Montfrans JM; Schmid JP; Pai S-Y; Soler-Palacin P; Schuermann U; Schuster V; Seidel MG; Speckmann C; Stepensky P; Sykora K-W; Tesi B; Vraetz T; Waruiru C; Bryceson YT; Moshous D; Lehmberg K; Jordan MB; Ehl S
Article: IMMUNITY. 2015;42(3):443-456
Cytomegalovirus Infection Drives Adaptive Epigenetic Diversification of NK Cells with Altered Signaling and Effector Function
Schlums H; Cichocki F; Tesi B; Theorell J; Beziat V; Holmes TD; Han H; Chiang SCC; Foley B; Mattsson K; Larsson S; Schaffer M; Malmberg K-J; Ljunggren H-G; Miller JS; Bryceson YT
Article: INDIAN JOURNAL OF DERMATOLOGY. 2014;59(4):394-397
An Indian boy with griscelli syndrome type 2: case report and review of literature.
Singh A; Garg A; Kapoor S; Khurana N; Entesarian M; Tesi B
Article: CANCER IMMUNOLOGY IMMUNOTHERAPY. 2014;63(6):627-641
Immunomodulatory activity of commonly used drugs on Fc-receptor-mediated human natural killer cell activation
Theorell J; Gustavsson A-L; Tesi B; Sigmundsson K; Ljunggren H-G; Lundbaeck T; Bryceson YT
Article: JOURNAL OF CLINICAL IMMUNOLOGY. 2014;34(4):469-477
Novel STAT3 Mutation Causing Hyper-IgE Syndrome: Studies of the Clinical Course and Immunopathology
Sundin M; Tesi B; Bohme MS; Bryceson YT; Putsep K; Chiang SC; Thunberg S; Winiarski J; Wikstorm A-C
Article: FRONTIERS IN IMMUNOLOGY. 2014;4:515
An N-terminal missense mutation in STX11 causative of FHLA abrogates syntaxin-11 binding to Munc18-2
Muller M-L; Chiang SCC; Meeths M; Tesi B; Entesarian M; Nilsson D; Wood SM; Nordenskjold M; Henter J-I; Naqvi A; Bryceson YT
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All other publications

Letter: ANNALS OF INTERNAL MEDICINE. 2025;178(2):300-304
Germline UBA1 Variant With Somatic Amplification in a Woman With Inflammatory Diseases and Myelodysplastic Syndrome
Creignou M; Sirenko M; Moura PL; Mortera-Blanco T; Dimitriou M; Sander B; Domenico D; Ossa JEA; Tesi B; Beck DB; Woll P; Jacobsen S-EW; Papaemmanuil E; Bernard E; Hellstrom-Lindberg E
Review: HEMASPHERE. 2024;8(8):e145
How to manage patients with germline DDX41 variants: Recommendations from the Nordic working group on germline predisposition for myeloid neoplasms.
Baliakas P; Tesi B; Cammenga J; Stray-Pedersen A; Jahnukainen K; Andersen MK; Ågerstam H; Creignou M; Dybedal I; Raaschou-Jensen K; Grønbæk K; Kilpivaara O; Lindberg EH; Wartiovaara-Kautto U
Review: JOURNAL OF INTERNAL MEDICINE. 2023;294(4):397-412
Precision medicine in rare diseases: What is next?
Tesi B; Boileau C; Boycott KM; Canaud G; Caulfield M; Choukair D; Hill S; Spielmann M; Wedell A; Wirta V; Nordgren A; Lindstrand A
Letter: PEDIATRIC BLOOD & CANCER. 2022;69(5):e29487
Childhood Kaposi sarcoma related to hypomorphic severe combined immunodeficiency caused by a novel CORO1A mutation
Muleviciene A; Sekine T; Zondag T; Bryceson YT; Tesi B; Rascon J
Review: HEMASPHERE. 2019;3(6):e321
Nordic Guidelines for Germline Predisposition to Myeloid Neoplasms in Adults: Recommendations for Genetic Diagnosis, Clinical Management and Follow-up.
Baliakas P; Tesi B; Wartiovaara-Kautto U; Stray-Pedersen A; Friis LS; Dybedal I; Hovland R; Jahnukainen K; Raaschou-Jensen K; Ljungman P; Rustad CF; Lautrup CK; Kilpivaara O; Kittang AO; Grønbæk K; Cammenga J; Hellström-Lindberg E; Andersen MK
Corrigendum: NATURE COMMUNICATIONS. 2019;10(1):4555
Human DEF6 deficiency underlies an immunodeficiency syndrome with systemic autoimmunity and aberrant CTLA-4 homeostasis (vol 10, pg 3106, 2019)
Serwas NK; Hoeger B; Ardy RC; Stulz SV; Sui Z; Memaran N; Meeths M; Krolo A; Petronczki OY; 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 J-N; Glauzy S; Huemer J; Garncarz W; Salzer E; Pierides I; Bilic I; Thiel J; Priftakis P; Banerjee PP; Foerster-Waldl E; Medgyesi D; Huber W-D; Orange JS; Meffre E; Sansom DM; Bryceson YT; Altman A; Boztug K
Review: JOURNAL OF INTERNAL MEDICINE. 2019;286(2):118-136
Cell-free tumour DNA testing for early detection of cancer - a potential future tool
Barbany G; Arthur C; Lieden A; Nordenskjold M; Rosenquist R; Tesi B; Wallander K; Tham E
Letter: BRITISH JOURNAL OF HAEMATOLOGY. 2019;185(2):354-357
Microdeletion of 7p12.1p13, including IKZF1, causes intellectual impairment, overgrowth, and susceptibility to leukaemia
Jarviaho T; Zachariadis V; Tesi B; Chiang S; Bryceson YT; Mottonen M; Niinimaki R; Bang B; Rahikkala E; Taylan F; Uusimaa J; Harila-Saari A; Nordgren A
Corrigendum: FRONTIERS IN IMMUNOLOGY. 2019;10:350
Unperturbed Cytotoxic Lymphocyte Phenotype and Function in Myalgic Encephalomyelitis/Chronic Fatigue Syndrome Patients (vol 8, 723, 2017)
Theorell J; Bileviciute-Ljungar I; Tesi B; Schlums H; Johnsgaard MS; Asadi-Azarbaijani B; Strand EB; Bryceson YT
Editorial comment: BLOOD. 2018;132(1):5-7
HLH: genomics illuminates pathophysiological diversity
Tesi B; Bryceson YT
Letter: JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY. 2018;142(1):317-321.e8
A RAB27A 5' untranslated region structural variant associated with late-onset hemophagocytic lymphohistiocytosis and normal pigmentation.
Tesi B; Rascon J; Chiang SCC; Burnyte B; Löfstedt A; Fasth A; Heizmann M; Juozapaite S; Kiudeliene R; Kvedaraite E; Miseviciene V; Muleviciene A; Müller M-L; Nordenskjöld M; Matuzeviciene R; Samaitiene R; Speckmann C; Stankeviciene S; Zekas V; Voss M; Ehl S; Vaiciene-Magistris N; Henter J-I; Meeths M; Bryceson YT
Doctoral thesis: 2017
Genetic studies of susceptibility to inflammation, autoimmunity, and hematological malignancy
Tesi B
Review: TRENDS IN IMMUNOLOGY. 2016;37(7):451-461
Epigenetic Regulation of Adaptive NK Cell Diversification
Tesi B; Schlums H; Cichocki F; Bryceson YT
Review: NANOPARTICLES FOR RATIONAL VACCINE DESIGN. 2016;395:63-94
Diversification and Functional Specialization of Human NK Cell Subsets
Cichocki F; Schlums H; Theorell J; Tesi B; Miller JS; Ljunggren H-G; Bryceson YT
Letter: JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY. 2015;135(6):1638-1641
Hemophagocytic lymphohistiocytosis in 2 patients with underlying IFN-γ receptor deficiency
Tesi B; Sieni E; Neves C; Romano F; Cetica V; Cordeiro AI; Chiang S; Schlums H; Galli L; Avenali S; Tondo A; Canessa C; Henter J-I; Nordenskjold M; Hsu AP; Holland SM; Neves JE; Azzari C; Bryceson YT
Review: EXPERIMENTAL CELL RESEARCH. 2014;325(1):10-17
Pathophysiology and spectrum of diseases caused by defects in lymphocyte cytotoxicity
Meeths M; Chiang SCC; Lofstedt A; Muller M-L; Tesi B; Henter J-I; Bryceson YT

Employments

Affiliated to Research, Department of Medicine, Huddinge, Karolinska Institutet, 2024-2027

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Degree Of Doctor Of Philosophy, Department of Women's and Children's Health, Karolinska Institutet, 2018

Supervision

Anna Tranberg
Sofia Frisk, Studies of Genetic Mosaicism in Rare Diseases

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