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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 V<sup>1

1</sup>Pediatrics 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

• Abstract
• Supplemental Materials

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

	Title	Type	Size
	doi10.18176_jiaci.0895_supplemental-materials-figure_1.pdf	pdf	270.75 Kb