Exploration of Potential Immunodeficiency Unveils Hennekam Lymphangiectasia-Lymphedema Syndrome

Sara Kaut¹, Giorgia Bucciol^{1

2}, Leen Moens², Isabelle Meyts^{3

4}

Affiliations

¹ Department of Pediatrics, Leuven University Hospitals, Herestraat 49, 3000, Leuven, Belgium.
² Laboratory of Inborn Errors of Immunity, Department of Microbiology, Immunology and Transplantation, KU Leuven, Leuven, Belgium.
³ Department of Pediatrics, Leuven University Hospitals, Herestraat 49, 3000, Leuven, Belgium. Isabelle.Meyts@uzleuven.be.
⁴ Laboratory of Inborn Errors of Immunity, Department of Microbiology, Immunology and Transplantation, KU Leuven, Leuven, Belgium. Isabelle.Meyts@uzleuven.be.

Case Reports

Sara Kaut et al. J Clin Immunol. 2021 Oct.

. 2021 Oct;41(7):1674-1676.

doi: 10.1007/s10875-021-01089-1. Epub 2021 Jun 26.

Sara Kaut¹, Giorgia Bucciol^{1

2}, Leen Moens², Isabelle Meyts^{3

4}

¹ Department of Pediatrics, Leuven University Hospitals, Herestraat 49, 3000, Leuven, Belgium.
² Laboratory of Inborn Errors of Immunity, Department of Microbiology, Immunology and Transplantation, KU Leuven, Leuven, Belgium.
³ Department of Pediatrics, Leuven University Hospitals, Herestraat 49, 3000, Leuven, Belgium. Isabelle.Meyts@uzleuven.be.
⁴ Laboratory of Inborn Errors of Immunity, Department of Microbiology, Immunology and Transplantation, KU Leuven, Leuven, Belgium. Isabelle.Meyts@uzleuven.be.

No abstract available

References

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. - DOI
1. 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. - DOI
1. 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. - DOI
1. 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. - DOI
1. 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. - DOI