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Hennekam Syndrome due to a Novel Homozygous CCBE1 Mutation Presenting as Pediatric-Onset Common Variable Immune Deficiency

Tessarin G1, Baronio M1, Gazzurelli L1, Rossi S1, Chiarini M2, Moratto D2, Badolato R1, Lougaris V1

1Pediatrics Clinic and Institute for Molecular Medicine "A. Nocivelli", Department of Clinical and Experimental Sciences, University of Brescia, ASST Spedali Civili of Brescia, Brescia, Italy
2Flow Cytometry Laboratory, Diagnostic Department, ASST Spedali Civili, Brescia, Italy

J Investig Allergol Clin Immunol 2023; Vol 33(6) : 488-490
doi: 10.18176/jiaci.0895

Key words: CCBE1, Hennekam syndrome, HKLLS, Lymphedema, CVID-like