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

J Investig Allergol Clin Immunol. 2023 Dec 14;33(6):488-490. doi: 10.18176/jiaci.0895. Epub 2023 Feb 7.

Authors

G Tessarin¹, M Baronio¹, L Gazzurelli¹, S Rossi¹, M Chiarini², D Moratto², R Badolato¹, V Lougaris¹

Affiliations

¹ 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.
² Flow Cytometry Laboratory, Diagnostic Department, ASST Spedali Civili, Brescia, Italy.

PMID: 36748365
DOI: 10.18176/jiaci.0895

No abstract available

Keywords: CCBE1; CVID-like; HKLLS; Hennekam syndrome; Lymphedema.

MeSH terms

Calcium-Binding Proteins / genetics
Child
Common Variable Immunodeficiency*
Craniofacial Abnormalities
Humans
Lymphangiectasis, Intestinal* / genetics
Lymphedema* / genetics
Mutation
Tumor Suppressor Proteins / genetics
Tumor Suppressor Proteins / metabolism

Substances

CCBE1 protein, human
Calcium-Binding Proteins
Tumor Suppressor Proteins

Supplementary concepts

Hennekam lymphangiectasia lymphedema syndrome