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References
Garces S, Medeiros LJ, Patel KP, Li S, Pina-Oviedo S, Li J, Garces JC, Khoury JD, Yin CC (2017) Mutually exclusive recurrent KRAS and MAP2K1 mutations in Rosai–Dorfman disease. Mod Pathol 30(10):1367–1377
Savaşan S, Al-Qanber B, Buck S, Wakeling E, Gadgeel M (2020) Clonal T-cell large granular lymphocyte proliferations in childhood and young adult immune dysregulation conditions. Pediatr Blood Cancer 67(5):e28231
Maric I, Pittaluga S, Dale JK, Niemela JE, Delsol G, Diment J, Rosai J, Raffeld M, Puck JM, Straus SE, Jaffe ES (2005) Histologic features of sinus histiocytosis with massive lymphadenopathy in patients with autoimmune lymphoproliferative syndrome. Am J Surg Pathol 29(7):903–911
Morgan NV, Morris MR, Cangul H et al (2010) Mutations in SLC29A3, encoding an equilibrative nucleoside transporter ENT3, cause a familial histiocytosis syndrome (Faisalabad histiocytosis) and familial Rosai-Dorfman disease. PLoS Genetics 6(2):e1000833
Rossbach H-C, Dalence C, Wynn T, Tebbi C (2006) Faisalabad histiocytosis mimics Rosai-Dorfman disease: brothers with lymphadenopathy, intrauterine fractures, short stature, and sensorineural deafness. Pediatr Blood Cancer 47(5):629–632
Sloan J, Johnston J, Manoli I et al (2011) Exome sequencing identifies ACSF3 as a cause of combined malonic and methylmalonic aciduria. Nat Genet 43(9):883–886
Haroche J, Charlotte F, Arnaud L, von Deimling A, Hélias-Rodzewicz Z, Hervier B, Cohen-Aubart F, Launay D, Lesot A, Mokhtari K, Canioni D, Galmiche L, Rose C, Schmalzing M, Croockewit S, Kambouchner M, Copin MC, Fraitag S, Sahm F, Brousse N, Amoura Z, Donadieu J, Emile JF (2012) High prevalence of BRAF V600E mutations in Erdheim-Chester disease but not in other non-Langerhans cell histiocytoses. Blood. 120(13):2700–2703
Zeng K, Ohshima K, Liu Y et al (2016) BRAFV600E and MAP2K1 mutations in Langerhans cell histiocytosis occur predominantly in children. Hematol Oncol 35(4):845–851
Melki I, Lambot K, Jonard L, Couloigner V, Quartier P, Neven B, Bader-Meunier B (2013) Mutation in the SLC29A3 gene: a new cause of a monogenic, autoinflammatory condition. Pediatrics. 131(4):e1308–e1313
Chela James, Simon Eaton, Paul Brogan, Khalid Hussain (2011) Pigmented hypertrichosis and insulin dependent diabetes mellitus (PHID) syndrome is associated with chronic inflammation and involves the NF-kB response pathway of inflammation. Presented at Society for Endocrinology BES 2017, London, UK. Endocrine Abstracts 27 P56
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This case has been submitted for presentation at the Histiocyte Society meeting in 2020.
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The manuscript was drafted by Shruthi Suryaprakash; edited by Amy George and Scott Langenburg; and was planned, drafted, and edited by Süreyya Savaşan.
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Suryaprakash, S., George, A., Langenburg, S. et al. Pediatric recurrent Rosai-Dorfman disease with germline heterozygous SLC29A3 and somatic MAP2K1 mutations. Ann Hematol 99, 2965–2967 (2020). https://doi.org/10.1007/s00277-020-04264-3
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DOI: https://doi.org/10.1007/s00277-020-04264-3