Immunodeficiency: primary or acquired

Poster

Icf Syndrome Due to a Homozygous Mutation in dnmt3b Gene in Two Patients with Profound Hypogammaglobulinemia Without Facial Dysmorphism

Friday, June 16
6:15 PM - 7:30 PM

Immunodeficiency, centromeric instability, and facial dysmorphism (ICF) syndrome is a rare autosomal recessive disease characterized by facial dysmorphism, immunoglobulin deficiency, and branching of chromosomes 1, 9, and 16 in activated lymphocytes. The two main entities of this syndrome, ICF1 and ICF2, are caused by mutations in DNMT3B and ZBTB24 genes and are very rare. In this study we describe a 4 year-old patient from a consanguineous family of Gambian origin. The patient was referred to our hospital because of growth delay, recurrent pulmonary infections, several episodes of sepsis and hypogammaglobulinemia. At the age of 7, a sister was born prematurely with intra- and extra-uterine growth delay. The karyotype of this sister suggested ICF. Both the sister and the patient lacked memory B cells. The karyotype detected chromosomal instability. Genetic studies in both the patient and his sister revealed a homozygous mutation in DNMT3B gene consisting in one base change in exon 16 (c.1747G>A) leading to an amino acid change (p.Gly583Ser) predicted as pathogenic. Interestingly, this mutation was recently found by another group in two patients also from Gambia, suggesting the possibility of a "founder effect" of this mutation in this region. We describe two new cases of ICF revealing that facial dysmorphism is not always present in ICF patients and consequently the disease might be under diagnosed.

Clara Franco-Jarava

Immunology Division, Hospital Universitari Vall d'Hebron

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    Marina Garcia-Prat

    Research Assistant
    Hospital Universitari Vall d'Hebron

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      Andrea Martin-Nalda

      Clinician on Clinical Immunology and Infectious Diseases (Pediatric)
      Clinical Immunologist and Infectious Diseases (Pediatric), Hospital Universitari Vall d'Hebron

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        Lourdes Garcia-Rodriguez

        Clinician (Pediatrics)
        Pediatric Unit, Hospital de Mataró, Consorci Sanitari de Mataró, Catalunya (Spain).

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          Rosario Diez

          Clinician (Pediatrics)
          Pediatrics Unit, Hospital de Mataró, Consorci Sanitari de Mataró, Catalunya (Spain).

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            Pere Soler-Palacin

            Consultant on Clinical Pediatric Immunology and Infectious Diseases
            Pediatrics Division, Hospital Universitari Vall d'Hebron / Jeffrey Modell Diagnostic and Research Center for Primary Immunodeficiencies, Barcelona, Catalunya

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              Manuel Hernandez-González

              Head of Immunology Division
              Immunology Division, Hospital Universitari Vall d'Hebron / Department of Cell Biology, Physiology and Immunology, Universitat Autonoma de Barcelona

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                Ricardo Pujol Borrell

                Professor
                Immunology Division, Hospital Universitari Vall d'Hebron / Department of Cell Biology, Physiology and Immunology, Universitat Autonoma de Barcelona

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                  Roger Colobran Oriol

                  Immunology Division, Hospital Universitari Vall d'Hebron / Department of Cell Biology, Physiology and Immunology, Universitat Autonoma de Barcelona

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                    Icf Syndrome Due to a Homozygous Mutation in dnmt3b Gene in Two Patients with Profound Hypogammaglobulinemia Without Facial Dysmorphism



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