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A combined immunodeficiency with severe infections, inflammation, and allergy caused by ARPC1B deficiency.
Volpi S, Cicalese MP, Tuijnenburg P, Tool ATJ, Cuadrado E, Abu-Halaweh M, Ahanchian H, Alzyoud R, Akdemir ZC, Barzaghi F, Blank A, Boisson B, Bottino C, Brigida I, Caorsi R, Casanova JL, Chiesa S, Chinn IK, Dückers G, Enders A, Erichsen HC, Forbes LR, Gambin T, Gattorno M, Karimiani EG, Giliani S, Gold MS, Jacobsen EM, Jansen MH, King JR, Laxer RM, Lupski JR, Mace E, Marcenaro S, Maroofian R, Meijer AB, Niehues T, Notarangelo LD, Orange J, Pannicke U, Pearson C, Picco P, Quinn PJ, Schulz A, Seeborg F, Stray-Pedersen A, Tawamie H, van Leeuwen EMM, Aiuti A, Yeung R, Schwarz K, Kuijpers TW. Volpi S, et al. Among authors: laxer rm. J Allergy Clin Immunol. 2019 Jun;143(6):2296-2299. doi: 10.1016/j.jaci.2019.02.003. Epub 2019 Feb 13. J Allergy Clin Immunol. 2019. PMID: 30771411 Free PMC article. No abstract available.
Arterial dissection in childhood Takayasu Arteritis: not as rare as thought.
Aeschlimann FA, Grosse-Wortmann L, Benseler SM, Laxer RM, Hebert D, Yeung RS. Aeschlimann FA, et al. Among authors: laxer rm. Pediatr Rheumatol Online J. 2016 Sep 22;14(1):56. doi: 10.1186/s12969-016-0115-3. Pediatr Rheumatol Online J. 2016. PMID: 27658465 Free PMC article.
Loss of the Arp2/3 complex component ARPC1B causes platelet abnormalities and predisposes to inflammatory disease.
Kahr WH, Pluthero FG, Elkadri A, Warner N, Drobac M, Chen CH, Lo RW, Li L, Li R, Li Q, Thoeni C, Pan J, Leung G, Lara-Corrales I, Murchie R, Cutz E, Laxer RM, Upton J, Roifman CM, Yeung RS, Brumell JH, Muise AM. Kahr WH, et al. Among authors: laxer rm. Nat Commun. 2017 Apr 3;8:14816. doi: 10.1038/ncomms14816. Nat Commun. 2017. PMID: 28368018 Free PMC article.
A Toddler Presenting with Pulmonary Renal Syndrome.
Aeschlimann FA, Yeung RSM, Laxer RM, Hebert D, Cooper A, Chami R, Noone D. Aeschlimann FA, et al. Among authors: laxer rm. Case Rep Nephrol Dial. 2017 Jun 23;7(2):73-80. doi: 10.1159/000477662. eCollection 2017 May-Aug. Case Rep Nephrol Dial. 2017. PMID: 28868297 Free PMC article.
An Update on Childhood-Onset Takayasu Arteritis.
Aeschlimann FA, Yeung RSM, Laxer RM. Aeschlimann FA, et al. Among authors: laxer rm. Front Pediatr. 2022 Apr 13;10:872313. doi: 10.3389/fped.2022.872313. eCollection 2022. Front Pediatr. 2022. PMID: 35498790 Free PMC article. Review.
The challenge of periodic fevers in children.
Dancey P, Benseler S, Junker AK, Laxer RM, Miettunen PM, Turner LA, Gattorno M. Dancey P, et al. Among authors: laxer rm. Paediatr Child Health. 2012 Mar;17(3):123. doi: 10.1093/pch/17.3.123. Paediatr Child Health. 2012. PMID: 23450961 Free PMC article. No abstract available.
Childhood Takayasu arteritis: disease course and response to therapy.
Aeschlimann FA, Eng SWM, Sheikh S, Laxer RM, Hebert D, Noone D, Twilt M, Pagnoux C, Benseler SM, Yeung RSM. Aeschlimann FA, et al. Among authors: laxer rm. Arthritis Res Ther. 2017 Nov 22;19(1):255. doi: 10.1186/s13075-017-1452-4. Arthritis Res Ther. 2017. PMID: 29166923 Free PMC article.
In silico validation of the Autoinflammatory Disease Damage Index.
Ter Haar NM, van Delft ALJ, Annink KV, van Stel H, Al-Mayouf SM, Amaryan G, Anton J, Barron KS, Benseler S, Brogan PA, Cantarini L, Cattalini M, Cochino AV, de Benedetti F, Dedeoglu F, de Jesus AA, Demirkaya E, Dolezalova P, Durrant KL, Fabio G, Gallizzi R, Goldbach-Mansky R, Hachulla E, Hentgen V, Herlin T, Hofer M, Hoffman HM, Insalaco A, Jansson AF, Kallinich T, Kone-Paut I, Kozlova A, Kuemmerle-Deschner JB, Lachmann HJ, Laxer RM, Martini A, Nielsen S, Nikishina I, Ombrello AK, Özen S, Papadopoulou-Alataki E, Quartier P, Rigante D, Russo R, Simon A, Trachana M, Uziel Y, Ravelli A, Schulert G, Gattorno M, Frenkel J. Ter Haar NM, et al. Among authors: laxer rm. Ann Rheum Dis. 2018 Nov;77(11):1599-1605. doi: 10.1136/annrheumdis-2018-213725. Epub 2018 Aug 4. Ann Rheum Dis. 2018. PMID: 30077992 Free PMC article.
317 results