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

G Tessarin, M Baronio, L Gazzurelli, S Rossi, M Chiarini, D Moratto, R Badolato, V Lougaris

Journal: Journal of investigational allergology & clinical immunology 2023;33(6):488-490

PMID: 36748365

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Abstract

Address: 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.; Flow Cytometry Laboratory, Diagnostic Department, ASST Spedali Civili, Brescia, Italy.

DOI: 10.18176/jiaci.0895

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http://www.jiaci.org/summary/vol33-issue6-num2803

Medical:

https://medlineplus.gov/lymphedema.html

MeSH Terms: Lymphangiectasis, Intestinal, Craniofacial Abnormalities, Calcium-Binding Proteins, Child, Lymphedema, Mutation, Tumor Suppressor Proteins, Humans, Common Variable Immunodeficiency