Clinical, immunologic and genetic analysis of 29 patients with autosomal recessive hyper-IgM syndrome due to Activation-Induced Cytidine Deaminase deficiency

Pierre Quartier, Jacinta Bustamante, Ozden Sanal, Alessandro Plebani, Marianne Debré, Anne Deville, Jiri Litzman, Jacov Levy, Jean Paul Fermand, Peter Lane, Gerd Horneff, Guzide Aksu, Isik Yalçin, Graham Davies, Ilhan Tezcan, Furgen Ersoy, Nadia Catalan, Kohsuhe Imai, Alain Fischer, Anne Durandy

    Research output: Contribution to journalArticlepeer-review

    229 Scopus citations

    Abstract

    Mutations of the Activation-Induced Cytidine Deaminase (AID) gene have been found in patients with autosomal recessive hyper-IgM (HIGM) syndrome type 2. We retrospectively analyzed clinical, immunologic and genetic characteristics of 29 patients from 22 families with AID deficiency. Patients' median age at diagnosis and at last evaluation was 4.9 years (range: 0 to 53) and 14.2 years (range: 2.7 to 63), respectively. Most patients had suffered from recurrent and severe infections, however, intravenous immunoglobulin (IVIG) replacement therapy resulted in a dramatic decrease in the number of infections. Lymphoid hyperplasia developed in 22 patients and persisted in 7 at last follow-up. It is striking to note that six patients developed autoimmune or inflammatory disorders including diabetes mellitus, polyarthritis, autoimmune hepatitis, hemolytic anemia, immune thrombocytopenia, Crohn's disease and chronic uveitis. Fifteen distinct AID mutations were found but there was no significant genotype-phenotype correlation. In conclusion, AID-deficient patients are prone to infections and lymphoid hyperplasia, which may be prevented by early-onset IVIG replacement, but also to autoimmune and inflammatory disorders.

    Original languageEnglish
    Pages (from-to)22-29
    Number of pages8
    JournalClinical Immunology
    Volume110
    Issue number1
    DOIs
    StatePublished - 1 Jan 2004

    Keywords

    • AID
    • Autoimmunity
    • Child
    • Immune deficiency
    • Intravenous immunoglobulin

    ASJC Scopus subject areas

    • Immunology and Allergy
    • Immunology

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