Kunskapsstöd, forskning och utveckling (FoUUI)

Lundtoft C, Eriksson D, Bianchi M, Aranda-Guillén M, Landegren N, Rantapää-Dahlqvist S, Söderkvist P, Meadows JRS; DISSECT Consortium; ImmunoArray Consortium; Swedish Addison Registry Study Group; Bensing S, Pielberg GR, Lindblad-Toh K, Rönnblom L, Kämpe O. Relation between HLA and copy number variation of steroid 21-hydroxylase in a Swedish cohort of patients with autoimmune Addison's disease. Eur J Endocrinol. 2023 Aug 2;189(2):235-241. doi: 10.1093/ejendo/lvad102.

Aranda-Guillén M, Røyrvik EC, Fletcher-Sandersjöö S, Artaza H, Botusan IR, Grytaas MA, Hallgren Å, Breivik L, Pettersson M, Jørgensen AP, Lindstrand A, Vogt E; Norwegian Addison Registry Study Group, The Swedish Addison Registry Study Group; Husebye ES, Kämpe O, Wolff ASB, Bensing S, Johansson S, Eriksson D. A polygenic risk score to help discriminate primary adrenal insufficiency of different etiologies. J Intern Med. 2023 Jul;294(1):96-109. doi: 10.1111/joim.13649.

Maccari ME, Wolkewitz M, Schwab C, Lorenzini T, Leiding JW, Aladjdi N, Abolhassani H, Abou-Chahla W, Aiuti A, Azarnoush S, Baris S, Barlogis V, Barzaghi F, Baumann U, Bloomfield M, Bohynikova N, Bodet D, Boutboul D, Bucciol G, Buckland MS, Burns SO, Cancrini C, Cathébras P, Cavazzana M, Cheminant M, Chinello M, Ciznar P, Coulter TI, D'Aveni M, Ekwall O, Eric Z, Eren E, Fasth A, Frange P, Fournier B, Garcia-Prat M, Gardembas M, Geier C, Ghosh S, Goda V, Hammarstrom L, Hauck F, Heeg M, Heropolitanska-Pliszka E, Hilfanova A, Jolles S, Karakoc-Aydiner E, Kindle GR, Klemann C, Koletsi P, Koltan S, Kondratenko I, Körholz J, Krüger R, Jeziorski E, Levy R, Le Guenno G, Lefevre G, Lougaris V, Marzollo A, Mahlaoui N, Malphettes M, Meinhardt A, Merlin E, Meyts I, Milota T, Moreira F, Moshous D, Mukhina A, Neth O, Neubert J, Neven B, Nieters A, Nove-Josserand R, Oksenhendler E, Ozen A, Olbrich P, Perlat A, Pac M, Schmid JP, Pacillo L, Parra-Martinez A, Paschenko O, Pellier I, Sefer AP, Plebani A, Plantaz D, Prader S, Raffray L, Ritterbusch H, Riviere JG, Rivalta B, Rusch S, Sakovich I, Savic S, Scheible R, Schleinitz N, Schuetz C, Schulz A, Sediva A, Semeraro M, Sharapova SO, Shcherbina A, Slatter  MA, Sogkas G, Soler-Palacin P, Speckmann C, Stephan J-L, Suarez F, Tommasini A, Trück J, Uhlmann A, van Aerde KJ, van Montfrans J, von Bernuth H, Warnatz K, Williams T, Worth AJ, Ip W, Picard C, Catherinot E, Nademi Z, Grimbacher B, Forbes Satter LR, Kracker S, Chandra A, Condliffe AM, Ehl  S; European Society for Immunodeficiencies Registry Working Party. Activated Phosphoinositide 3-Kinase δ Syndrome: Update from the ESID Registry and comparison with other autoimmune-lymphoproliferative inborn errors of immunity. J Allergy Clin Immunol. 2023 Jun 28:S0091-6749(23)00812-6. doi: 10.1016/j.jaci.2023.06.015.

Matuozzo D, Talouarn E, Marchal A, Zhang P, Manry J, Seeleuthner Y, Zhang Y, Bolze A, Chaldebas M, Milisavljevic B, Gervais A, Bastard P, Asano T, Bizien L, Barzaghi F, Abolhassani H, Abou Tayoun A, Aiuti A, Alavi Darazam I, Allende LM, Alonso-Arias R, Arias AA, Aytekin G, Bergman P, Bondesan S, Bryceson YT, Bustos IG, Cabrera-Marante O, Carcel S, Carrera P, Casari G, Chaïbi K, Colobran R, Condino-Neto A, Covill LE, Delmonte OM, El Zein L, Flores C, Gregersen PK, Gut M, Haerynck F, Halwani R, Hancerli S, Hammarström L, Hatipoğlu N, Karbuz A, Keles S, Kyheng C, Leon-Lopez R, Franco JL, Mansouri D, Martinez-Picado J, Metin Akcan O, Migeotte I, Morange PE, Morelle G, Martin-Nalda A, Novelli G, Novelli A, Ozcelik T, Palabiyik F, Pan-Hammarström Q, de Diego RP, Planas-Serra L, Pleguezuelo DE, Prando C, Pujol A, Reyes LF, Rivière JG, Rodriguez-Gallego C, Rojas J, Rovere-Querini P, Schlüter A, Shahrooei M, Sobh A, Soler-Palacin P, Tandjaoui-Lambiotte Y, Tipu I, Tresoldi C, Troya J, van de Beek D, Zatz M, Zawadzki P, Al-Muhsen SZ, Alosaimi MF, Alsohime FM, Baris-Feldman H, Butte MJ, Constantinescu SN, Cooper MA, Dalgard CL, Fellay J, Heath JR, Lau YL, Lifton RP, Maniatis T, Mogensen TH Horst von Bernuth, Alban Lermine, Michel Vidaud, Anne Boland, Jean-François Deleuze, Robert Nussbaum, Amanda Kahn-Kirby, France Mentre, Sarah Tubiana, Guy Gorochov, Florence Tubach, Pierre Hausfater; COVID Human Genetic Effort; COVIDeF Study Group; French COVID Cohort Study Group; CoV-Contact Cohort; COVID-STORM Clinicians; COVID Clinicians; Orchestra Working Group; Amsterdam UMC Covid-19 Biobank; NIAID-USUHS COVID Study Group; Isabelle Meyts, Shen-Ying Zhang, Anne Puel, Luigi D Notarangelo, Stephanie Boisson-Dupuis, Helen C Su, Bertrand Boisson, Emmanuelle Jouanguy, Jean-Laurent Casanova, Qian Zhang, Laurent Abel, Aurélie Cobatet. Rare predicted loss-of-function variants of type I IFN immunity genes are associated with life-threatening COVID-19. Genome Med. 2023 Apr 5;15(1):22. doi: 10.1186/s13073-023-01173-8.

Gudmundsdottir JA, Thorgeirsdottir S, Lundbäck V, Göngrich C, Framme JL, Kindgren E, Rydenman K, Ludviksson BR, Bjarnadottir H, Runarsdottir S, Nilsson S, Zetterström RH, Ekwall O, Lindgren S. Normal neonatal TREC and KREC levels in early onset juvenile idiopathic arthritis. Clin Immunol. 2023 Apr; 249:109277. doi: 10.1016/j.clim.2023.109277.

He Y, Ge C, Moreno-Giró À, Xu B, Beusch CM, Sandor K, Su J, Cheng L, Lönnblom E, Lundqvist C, Slot LM, Tong D, Urbonaviciute V, Liang B, Li T, Lahore GF, Aoun M, Malmström V, Rispens T, Ernfors P, Svensson CI, Scherer HU, Toes REM, Gjertsson I, Ekwall O, Zubarev RA, Holmdahl R. A subset of antibodies targeting citrullinated proteins confers protection from rheumatoid arthritis. Nat Commun. 2023 Feb 8;14(1):691. doi: 10.1038/s41467-023-36257-x

Albinsson S, Lingblom C, Lundqvist C, Hennings V, Telemo E, Ekwall O, Wennerås C. Distinct populations of eosinophils in the human thymus with capacity to modulate thymocyte maturation. Immunology. 2023 May;169(1):57-68. doi: 10.1111/imm.13610

Israni M, Nicholson B, Mahlaoui N, Obici L, Rossi-Semerano L, Lachmann H, Hayward G, Avramovič MZ, Guffroy A, Dalm V, Rimmer R, Solis L, Villar C, Gennery AR, Skeffington S, Nordin J, Warnatz K, Korganow AS, Antón J, Cattalini M, Amin T, Berg S, Soler-Palacin P, Burns SO, Campbell M; RITA-ERN Transition Working Group Consortium. Current Transition Practice for Primary Immunodeficiencies and Autoinflammatory Diseases in Europe: a RITA-ERN Survey. J Clin Immunol. 2023 Jan;43(1):206-216. doi: 10.1007/s10875-022-01345-y.

Ekman-Joelsson BM, Brandström P, Allén M, Andersson B, Wåhlander H, Mellgren K, Ekwall O. Immunological differences between heart- and kidney-transplanted children: a cross-sectional study. Cardiol Young. 2023 May;33(5):787-792. doi: 10.1017/S1047951122001743                 

Kelk P, Fasth A, Holgerson P, Sjöström M. Successful complete oral rehabilitation of a patient with osteopetrosis with extensive pre-treatments, bone grafts, dental implants and fixed bridges: a multidisciplinary case report. BMC Oral Health. 2023 Nov 28;23(1):940. doi: 10.1186/s12903-023-03707-3.

Rydenman K, Sparud-Lundin C, Karlsson-Bengtsson A, Berg S, Fasth A, Wekell P. Tonsillectomy reduces the family impact of periodic fever, aphthous stomatitis, pharyngitis and cervical adenitis (PFAPA) syndrome and improves health-related quality of life in affected children. Orphanet J Rare Dis. 2023 Jun 20;18(1):153. doi: 10.1186/s13023-023-02773-8.

Nichele S, Bonfim C, Junior LGD, Loth G, Kuwahara C, Trennephol J, Funke VAM, Marinho DE, Koliski A, Rodrigues AM, Mousquer RTG, Fasth A, Lima ACM, Calado RT, Pasquini R. Hematopoietic cell transplantation for telomere biology diseases: A retrospective single-center cohort study. Eur J Haematol. 2023 Sep;111(3):423-431. doi: 10.1111/ejh.14023.

Lévy R, Gothe F, Momenilandi M, Magg T, Materna M, Peters P, Raedler J, Philippot Q, Rack-Hoch AL, Langlais D, Bourgey M, Lanz AL, Ogishi M, Rosain J, Martin E, Latour S, Vladikine N, Distefano M, Khan T, Rapaport F, Schulz MS, Holzer U, Fasth A, Sogkas G, Speckmann C, Troilo A, Bigley V, Roppelt A, Dinur-Schejter Y, Toker O, Bronken Martinsen KH, Sherkat R, Somekh I, Somech R, Shouval DS, Kühl JS, Ip W, McDermott EM, Cliffe L, Ozen A, Baris S, Rangarajan HG, Jouanguy E, Puel A, Bustamante J, Alyanakian MA, Fusaro M, Wang Y, Kong XF, Cobat A, Boutboul D, Castelle M, Aguilar C, Hermine O, Cheminant M, Suarez F, Yildiran A, Bousfiha A, Al-Mousa H, Alsohime F, Cagdas D, Abraham RS, Knutsen AP, Fevang B, Bhattad S, Kiykim A, Erman B, Arikoglu T, Unal E, Kumar A, Geier CB, Baumann U, Neven B; CARMIL2 Consortium; Rohlfs M, Walz C, Abel L, Malissen B, Marr N, Klein C, Casanova JL, Hauck F, Béziat V Human CARMIL2 deficiency underlies a broader immunological and clinical phenotype than CD28 deficiency. J Exp Med. 2023 Feb 6;220(2):e20220275. doi: 10.1084/jem.20220275.

Borgström EW, Edvinsson M, Pérez LP, Norlin AC, Enoksson SL, Hansen S, Fasth A, Friman V, Kämpe O, Månsson R, Estupiñán HY, Wang Q, Ziyang T, Lakshmikanth T, Smith CIE, Brodin P, Bergman P. Three Adult Cases of STAT1 Gain-of-Function with Chronic Mucocutaneous Candidiasis Treated with JAK Inhibitors. J Clin Immunol. 2023 Jan;43(1):136-150. doi: 10.1007/s10875-022-01351-0.