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References
Hennekam RC, Geerdink RA, Hamel BC, Hennekam FA, Kraus P, Rammeloo JA, et al. Autosomal recessive intestinal lymphangiectasia and lymphedema, with facial anomalies and mental retardation. Am J Med Genet. 1989;34(4):593–600.
Van Balkom ID, Alders M, Allanson J, Bellini C, Frank U, De Jong G, et al. Lymphedema-lymphangiectasia-mental retardation (Hennekam) syndrome: a review. Am J Med Genet. 2002;112(4):412–21.
Melber DJ, Andreasen TS, Mao R, Tvrdik T, Miller CE, Moore TR, et al. Novel mutation in. Clin Case Rep. 2018;6(12):2358–63.
Alders M, Hogan BM, Gjini E, Salehi F, Al-Gazali L, Hennekam EA, et al. Mutations in CCBE1 cause generalized lymph vessel dysplasia in humans. Nat Genet. 2009;41(12):1272–4.
Alders M, Al-Gazali L, Cordeiro I, Dallapiccola B, Garavelli L, Tuysuz B, et al. Hennekam syndrome can be caused by FAT4 mutations and be allelic to Van Maldergem syndrome. Hum Genet. 2014;133(9):1161–7.
Brouillard P, Dupont L, Helaers R, Coulie R, Tiller GE, Peeden J, et al. Loss of ADAMTS3 activity causes Hennekam lymphangiectasia-lymphedema syndrome 3. Hum Mol Genet. 2017;26(21):4095–104.
Scheuerle AE, Sweed NT, Timmons CF, Smith ED, Alcaraz WA, Shinde DN. An additional case of Hennekam lymphangiectasia-lymphedema syndrome caused by loss-of-function mutation in ADAMTS3. Am J Med Genet A. 2018;176(12):2858–61.
Jeltsch M, Jha SK, Tvorogov D, Anisimov A, Leppänen VM, Holopainen T, et al. CCBE1 enhances lymphangiogenesis via A disintegrin and metalloprotease with thrombospondin motifs-3-mediated vascular endothelial growth factor-C activation. Circulation. 2014;129(19):1962–71.
Bishnoi A, Vinay K, Vishwajeet V, Saikia UN, Panigrahi I, Kumaran MS. Warty fingers and toes in a child with congenital lymphedema: elephantiasis nostras verrucosa. JAMA Dermatol. 2018;154(7):849–50.
Bellini C, Hennekam RC. Clinical disorders of primary malfunctioning of the lymphatic system. Adv Anat Embryol Cell Biol. 2014;214:187–204.
Brouillard P, Boon L, Vikkula M. Genetics of lymphatic anomalies. J Clin Invest. 2014;124(3):898–904.
Funding
IM is a senior clinical investigator at the Research Foundation—Flanders (FWO) and is supported by the CSL-Behring Chair of Primary Immunodeficiencies; by a KU Leuven C1 Grant [grant number C16/18/007]; by a VIB GC PID Grant; by the Research Foundation—Flanders (FWO) [grant numbers G0C8517N, G0B5120N, and G0E8420N]; and by the Jeffrey Modell Foundation. This work was supported by ERN-RITA.
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SK and IM were the principal investigators and drafted the manuscript; LM performed the genetic and immunological analysis, SK, GB, and IM were involved in the clinical care. All authors revised and corrected the manuscript.
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This study was performed in accordance with the ethical standards as laid down in the 1964 Declaration of Helsinki and its later amendments and was approved by the Ethics Committee for Research of Leuven University Hospitals.
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IM receives the CSL-Behring Chair of Primary Immunodeficiencies in Children, paid to Institution.
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Kaut, S., Bucciol, G., Moens, L. et al. Exploration of Potential Immunodeficiency Unveils Hennekam Lymphangiectasia-Lymphedema Syndrome. J Clin Immunol 41, 1674–1676 (2021). https://doi.org/10.1007/s10875-021-01089-1
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DOI: https://doi.org/10.1007/s10875-021-01089-1