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Journal of Clinical Immunology
Appendix
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Literature
1.
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.CrossRef
2.
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.CrossRef
3.
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.CrossRef
4.
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.CrossRef
5.
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.CrossRef
6.
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.CrossRef
7.
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.CrossRef
8.
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.CrossRef
9.
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.CrossRef
10.
Bellini C, Hennekam RC. Clinical disorders of primary malfunctioning of the lymphatic system. Adv Anat Embryol Cell Biol. 2014;214:187–204.CrossRef
11.
Brouillard P, Boon L, Vikkula M. Genetics of lymphatic anomalies. J Clin Invest. 2014;124(3):898–904.CrossRef
Metadata
Title
Exploration of Potential Immunodeficiency Unveils Hennekam Lymphangiectasia-Lymphedema Syndrome
Authors
Sara Kaut
Giorgia Bucciol
Leen Moens
Isabelle Meyts
Publication date
01-10-2021
Publisher
Springer US
Published in
Journal of Clinical Immunology / Issue 7/2021
Print ISSN: 0271-9142
Electronic ISSN: 1573-2592
DOI
https://doi.org/10.1007/s10875-021-01089-1

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