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Constitutive activation of WASp leads to abnormal cytotoxic cells with increased granzyme B and degranulation response to target cells.
Kritikou JS, Oliveira MM, Record J, Saeed MB, Nigam SM, He M, Keszei M, Wagner AK, Brauner H, Sendel A, Sedimbi SK, Rentouli S, Lane DP, Snapper SB, Kärre K, Vandenberghe P, Orange JS, Westerberg LS. Kritikou JS, et al. Among authors: he m. JCI Insight. 2021 Mar 22;6(6):e140273. doi: 10.1172/jci.insight.140273. JCI Insight. 2021. PMID: 33621210 Free PMC article.
A novel mouse model for the hyper-IgM syndrome: a spontaneous activation-induced cytidine deaminase mutation leading to complete loss of Ig class switching and reduced somatic hypermutation.
Dahlberg CI, He M, Visnes T, Torres ML, Cortizas EM, Verdun RE, Westerberg LS, Severinson E, Ström L. Dahlberg CI, et al. Among authors: he m. J Immunol. 2014 Nov 1;193(9):4732-8. doi: 10.4049/jimmunol.1401242. Epub 2014 Sep 24. J Immunol. 2014. PMID: 25252954 Free PMC article.
Constitutive activation of WASp in X-linked neutropenia renders neutrophils hyperactive.
Keszei M, Record J, Kritikou JS, Wurzer H, Geyer C, Thiemann M, Drescher P, Brauner H, Köcher L, James J, He M, Baptista MA, Dahlberg CI, Biswas A, Lane DP, Song W, Pütsep K, Vandenberghe P, Snapper SB, Westerberg LS. Keszei M, et al. Among authors: he m. J Clin Invest. 2018 Aug 31;128(9):4115-4131. doi: 10.1172/JCI64772. Epub 2018 Aug 20. J Clin Invest. 2018. PMID: 30124469 Free PMC article.
An intronic deletion in megakaryoblastic leukemia 1 is associated with hyperproliferation of B cells in triplets with Hodgkin lymphoma.
Record J, Sendel A, Kritikou JS, Kuznetsov NV, Brauner H, He M, Nagy N, Oliveira MMS, Griseti E, Haase CB, Dahlström J, Boddul S, Wermeling F, Thrasher AJ, Liu C, Andersson J, Claesson HE, Winqvist O, Burns SO, Björkholm M, Westerberg LS. Record J, et al. Among authors: he m. Haematologica. 2020 May;105(5):1339-1350. doi: 10.3324/haematol.2019.216317. Epub 2019 Oct 3. Haematologica. 2020. PMID: 31582539 Free PMC article.
Overactive WASp in X-linked neutropenia leads to aberrant B-cell division and accelerated plasma cell generation.
He M, Saeed MB, Record J, Keszei M, Gonçalves Pinho L, Vasconcelos-Fontes L, D'Aulerio R, Vieira R, Oliveira MMS, Geyer C, Bohaumilitzky L, Thiemann M, Deordieva E, Buedts L, Matias Lopes JP, Pershin D, Hammarström L, Xia Y, Zhao X, Cunningham-Rundles C, Thrasher AJ, Burns SO, Cotta-de-Almeida V, Liu C, Shcherbina A, Vandenberghe P, Westerberg LS. He M, et al. J Allergy Clin Immunol. 2022 Mar;149(3):1069-1084. doi: 10.1016/j.jaci.2021.07.033. Epub 2021 Aug 9. J Allergy Clin Immunol. 2022. PMID: 34384840 Free article.
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