Bianca Tesi

Publications
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Articles

Article: THE 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; Díaz de Ståhl T; Orrsjö 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; Norén-Nyström U; Borssén M; Fili M; Stålhammar G; Herold N; Tettamanti G; Maya-Gonzalez C; Arvidsson L; Rosén A; Ekholm K; Kuchinskaya E; Hallbeck A-L; Nordling M; Palmebäck P; Kogner P; Smoler GK; Lähteenmäki P; Fransson 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; Kämpe 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; Björklund 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; Venckute Larsson S; Tobiasson M; Malcovati L; Woll P; Jacobsen SEW; Papaemmanuil E; Hellström-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; Peffault de Latour R; Leblanc T; Sicre de Fontbrune F; Siitonen T; Lohi O; Hellström-Lindberg E; Barbany G; Tesi B; Shimamura A; Beier F; Jackson S; Kuperman AA; Falik Zaccai T; Tamary H; Mecucci C; Capolsini I; Jahnukainen K; Salmenniemi U; Niinimäki 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; Diaz De Ståhl T; Tesi B; Orsmark Pietras C; Arvidsson L; Taylan F; Fransson S; Vogt H; Poluha A; Pradhananga S; Hellberg M; Lagerstedt-Robinson K; Raj Somarajan P; Samuelsson S; Orrsjö S; Maqbool K; Henning K; Strid T; Ek T; Fagman H; Olsson Bontell T; Martinsson T; Puls F; Kogner P; Wirta V; Pronk CJ; Wille J; Rosenquist R; Nistér M; Mertens F; Sabel M; Norén-Nyström U; Grillner P; Nordgren A; Ljungman G; Sandgren J; Gisselsson D; Genomic Medicine Sweden Childhood Cancer Working G
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; Høberg-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; PTEN Study Group; Vos JR
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-González C; Wessman S; Lagerstedt-Robinson K; Taylan F; Tesi B; Kuchinskaya E; McCluggage WG; Poluha A; Holm S; Nergårdh R; Díaz De Ståhl T; Höybye 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 DG; 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; PTEN Study Group; 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; Björck E; Carlsten J; Eisfeldt J; Grigelioniene G; Gustavsson P; Hammarsjö A; Helgadóttir HT; Hellström-Pigg M; Kuchinskaya E; Lagerstedt-Robinson K; Levin L-Å; Lieden A; Lindelöf H; Malmgren H; Nilsson D; Svensson E; Paucar M; Sahlin E; Tesi B; Tham E; Winberg J; Winerdal M; Wincent J; Johansson Soller M; 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; Jäntti 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; Dückers G; Fasth A; Fraitag S; Gräwe K; Haxelmans S; Holzinger D; Hudowenz O; Hübschen JM; Khurana C; Kienle K; Klifa R; Korn K; Kutzner H; Lämmermann T; Ledig S; Lipsker D; Meeths M; Naumann-Bartsch N; Rascon J; Schänzer 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: ARCHIVUM IMMUNOLOGIAE ET THERAPIAE EXPERIMENTALIS. 2021;69(1):31

Molecular Genetics Diversity of Primary Hemophagocytic Lymphohistiocytosis among Polish Pediatric Patients.

Bąbol-Pokora K; Wołowiec M; Popko K; Jaworowska A; Bryceson YT; Tesi B; Henter J-I; Młynarski W; Badowska W; Balwierz W; Drabko K; Kałwak K; Maciejka-Kembłowska L; Pieczonka A; Sobol-Milejska G; Kołtan S; Malinowska I; Polish Pediatric Hematology, Oncology Society
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.

von Bahr Greenwood T; 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; Ideström M; Mouratidou N; Rassidakis G; von Bahr Greenwood T; Cohen-Aubart F; Jädersten M; Åkefeldt 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; Björck E; Bruhn H; Eisfeldt J; Freyer C; Grigelioniene G; Gustavsson P; Hammarsjö A; Hellström-Pigg M; Iwarsson E; Jemt A; Laaksonen M; Enoksson SL; Malmgren H; Naess K; Nordenskjöld M; Oscarson M; Pettersson M; Rasi C; Rosenbaum A; Sahlin E; Sardh E; Stödberg T; Tesi B; Tham E; Thonberg H; Töhönen V; von Döbeln U; Vassiliou D; Vonlanthen S; Wikström A-C; Wincent J; Winqvist O; Wredenberg A; Ygberg S; Zetterström 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; Nordenskjöld 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: 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
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; Annerén 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; 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 J-N; Glauzy S; Huemer J; Garncarz W; Salzer E; Pierides I; Bilic I; Thiel J; Priftakis P; Banerjee PP; Förster-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.

Löfstedt A; Ahlm C; Tesi B; Bergdahl IA; Nordenskjöld 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 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
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; Rundberg Nilsson A; Ripperger T; Kokkonen H; Bryder D; Fioretos T; Henter J-I; Möttönen M; Niinimäki R; Nilsson L; Pronk CJ; Puschmann A; Qian H; Uusimaa J; Moilanen J; Tedgård 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; Page BDG; Calderón-Montaño JM; Loseva O; Jemth A-S; Bulli L; Axelsson H; Tesi B; Valerie NCK; Höglund A; Bladh J; Wiita E; Sundin M; Uhlin M; Rassidakis G; Heyman M; Tamm KP; Warpman-Berglund U; Walfridsson J; Lehmann S; Grandér D; Lundbäck T; Kogner P; Henter J-I; Helleday T; Schaller T
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; Bolle Strand E; Bryceson YT
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; Ünüvar A; Introne WJ; Henter J-I; Nordenskjöld M; Ljunggren H-G; Meeths M; Ehl S; Krzewski K; 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.

Balcı YI; Özgürler Akpınar F; Polat A; Kenar F; Tesi B; Greenwood T; Yalçın N; Koçyiğit 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; Löfstedt A; Lörinc 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; Möttönen M; Akar HH; Hästbacka J; Kaya Z; Nunes S; Patiroglu T; Sabel M; Saribeyoglu ET; Tvedt TH; Unal E; Unal S; Unuvar A; Meeths M; Henter J-I; Nordenskjöld 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; Langenskiöld C; Wali R; Fadoo Z; Silva JP; Lecumberri R; Unal S; Nordenskjöld 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 SF; 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; Pachlopnik Schmid J; 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; Inborn Errors Working Party of the EBMT
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: 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; Lundbäck 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; Sund Böhme M; Bryceson YT; Pütsep K; Chiang SC; Thunberg S; Winiarski J; Wikström A-C
Article: FRONTIERS IN IMMUNOLOGY. 2014;4:515

An N-Terminal Missense Mutation in STX11 Causative of FHL4 Abrogates Syntaxin-11 Binding to Munc18-2.

Müller M-L; Chiang SCC; Meeths M; Tesi B; Entesarian M; Nilsson D; Wood SM; Nordenskjöld M; Henter J-I; Naqvi A; Bryceson YT
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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
Editorial comment: 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
Corrigendum: NATURE COMMUNICATIONS. 2019;10(1):4555

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 J-N; Glauzy S; Huemer J; Garncarz W; Salzer E; Pierides I; Bilic I; Thiel J; Priftakis P; Banerjee PP; Förster-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; Liedén A; Nordenskjöld 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.

Järviaho T; Zachariadis V; Tesi B; Chiang S; Bryceson YT; Möttönen M; Niinimäki R; Bang B; Rahikkala E; Taylan F; Uusimaa J; Harila-Saari A; Nordgren A
Corrigendum: FRONTIERS IN IMMUNOLOGY. 2019;10:350

Corrigendum: 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
Editorial comment: BLOOD. 2018;132(1):5-7

HLH: genomics illuminates pathophysiological diversity.

Tesi B; Bryceson YT
Thesis / dissertation: 2017

Genetic studies of susceptibility to inflammation, autoimmunity, and hematological malignancy

Tesi, Bianca
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.

Cichicki 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; Nordenskjöld M; Hsu AP; Holland SM; Neves JF; Azzari C; Bryceson YT
Review: 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
Review: EXPERIMENTAL CELL RESEARCH. 2014;325(1):10-17

Pathophysiology and spectrum of diseases caused by defects in lymphocyte cytotoxicity.

Meeths M; Chiang SCC; Löfstedt A; Müller M-L; Tesi B; Henter J-I; Bryceson YT

Employments

Affiliated to Research, Department of Medicine, Huddinge, Karolinska Institutet, 2024-2027
Affiliated to Research, Department of Molecular Medicine and Surgery, Karolinska Institutet, 2022-2025

Degrees and Education

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

Supervisor

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

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