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1.	Edvardson, S, et al. (author) Mutations in the phosphatidylinositol glycan C (PIGC) gene are associated with epilepsy and intellectual disability 2017 In: Journal of medical genetics. - : BMJ. - 1468-6244 .- 0022-2593. ; 54:3, s. 196-201 Journal article (peer-reviewed)
2.	Keller, Baerbel, et al. (author) Early onset combined immunodeficiency and autoimmunity in patients with loss-of-function mutation in LAT 2016 In: Journal of Experimental Medicine. - : ROCKEFELLER UNIV PRESS. - 0022-1007 .- 1540-9538. ; 213:7, s. 1185-1199 Journal article (peer-reviewed)abstract The adapter protein linker for activation of T cells (LAT) is a critical signaling hub connecting T cell antigen receptor triggering to downstream T cell responses. In this study, we describe the first kindred with defective LAT signaling caused by a homozygous mutation in exon 5, leading to a premature stop codon deleting most of the cytoplasmic tail of LAT, including the critical tyrosine residues for signal propagation. The three patients presented from early childhood with combined immunodeficiency and severe autoimmune disease. Unlike in the mouse counterpart, reduced numbers of T cells were present in the patients. Despite the reported nonredundant role of LAT in Ca2+ mobilization, residual T cells were able to induce Ca2+ influx and nuclear factor (NF) kappa B signaling, whereas extracellular signal-regulated kinase (ERK) signaling was completely abolished. This is the first report of a LAT-related disease in humans, manifesting by a progressive combined immune deficiency with severe autoimmune disease.
3.	Van Dijck, A, et al. (author) Clinical Presentation of a Complex Neurodevelopmental Disorder Caused by Mutations in ADNP 2019 In: Biological psychiatry. - : Elsevier BV. - 1873-2402 .- 0006-3223. ; 85:4, s. 287-297 Journal article (peer-reviewed)
4.	Wuennemann, F, et al. (author) Loss of ADAMTS19 causes progressive non-syndromic heart valve disease 2020 In: Nature genetics. - : Springer Science and Business Media LLC. - 1546-1718 .- 1061-4036. ; 52:1, s. 40- Journal article (peer-reviewed)

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Type of publication: journal article (4)

Type of content: peer-reviewed (4)

Author/Editor: Wilson, M (1); Desai, S. (1); Bryceson, Y (1); Gerdts, J (1); Nordgren, A (1); Nordenskjold, M (1); show more...; Sigvardsson, Mikael (1); Eriksson, P (1); Franco-Cereceda, A (1); Clement, E. (1); Gripp, K (1); Baker, L (1); Moog, U (1); Lindstrand, A (1); Malmgren, H (1); Campeau, PM (1); Mansour, S (1); Gozes, I (1); Kvarnung, M (1); Andelfinger, G (1); Anderlid, BM (1); Puceat, M (1); Bernier, R. (1); Faivre, L. (1); Kinoshita, T. (1); Monteiro, F (1); Fournier, A. (1); Stepensky, Polina (1); McGuire, M (1); Pizzino, A (1); Boonen, SE (1); Chung, WK (1); Bowdin, S (1); Becker-Pauly, C (1); Ta-Shma, A. (1); Lynch, SA (1); Fannemel, M (1); Clayton-Smith, J (1); Shaag, Avraham (1); Elpeleg, Orly (1); Bezieau, S (1); Kury, S (1); van Haeringen, A (1); Riess, A (1); Murakami, Y (1); Romano, C (1); Hofmann, P. (1); Schachtrup, Kristina (1); Eichler, EE (1); de Vries, BBA (1); show less...

University: Karolinska Institutet (3); Linköping University (1)

Language: English (4)

Research subject (UKÄ/SCB): Medical and Health Sciences (1)

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