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Article

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

Journal of investigational allergology & clinical immunology - 14 Dec 2023

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

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PMID: 36748365
DOI: 10.18176/jiaci.0895

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Related research

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Hennekam Syndrome due to a Novel Homozygous CCBE1 Mutation Presenting as Pediatric-Onset Common Variable Immune Deficiency.PMID 36748365Read ↗

A case report of Hennekam syndrome with a mutation in the CCBE1 gene.Semantic proximity Read ↗

Intestinal lymphangiectasia in a 3-month-old girl: A case report of Hennekam syndrome caused by CCBE1 mutation.Semantic proximity Read ↗

A novel CCBE1 mutation leading to a mild form of hennekam syndrome: case report and review of the literature.Semantic proximity Read ↗

Expanding the genotypic spectrum of CCBE1 mutations in Hennekam syndrome.Semantic proximity Read ↗

Lymphoma Predisposing Gene in an Extended Family: CD70 Signaling Defect.Semantic proximity Read ↗

Current Genetic Defects in Common Variable Immune Deficiency Patients on the Geography Between Europe and AsiaSemantic proximity Read ↗

Hennekam syndrome can be caused by FAT4 mutations and be allelic to Van Maldergem syndrome.Semantic proximity Read ↗

A Multiplex Kindred with Hennekam Syndrome due to Homozygosity for a CCBE1 Mutation that does not Prevent Protein Expression.Semantic proximity Read ↗

Newfound features associated with Hennekam Syndrome (Intestinal Lymphangiectasia-Lymphedema-Intellectual-Disability Syndrome) complicated with comorbid Waldmann’s disease resulting in celiac diseaseSemantic proximity Read ↗

Van Maldergem syndrome and Hennekam syndrome: Further delineation of allelic phenotypes.Semantic proximity Read ↗

Mulibrey nanism and immunological complications: a comprehensive case report and literature review.Semantic proximity Read ↗

JAK1 gain-of-function causes an autosomal dominant immune dysregulatory and hypereosinophilic syndrome.Semantic proximity Read ↗

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