Clinical, immunologic and genetic analysis of 29 patients with autosomal recessive hyper-IgM syndrome due to Activation-Induced Cytidine Deaminase deficiency
| Autor: | Ilhan Tezcan, Alain Fischer, Jiri Litzman, Gerd Horneff, Alessandro Plebani, Guzide Aksu, Anne Durandy, Ozden Sanal, Jacov Levy, Graham Davies, Nadia Catalan, Jean-Paul Fermand, Peter J. L. Lane, Kohsuhe Imai, Jacinta Bustamante, Anne Deville, Işık Yalçın, Ersoy F, Pierre Quartier, Marianne Debré |
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| Rok vydání: | 2004 |
| Předmět: |
Adult
Male Hemolytic anemia clinical features Adolescent Immunology Genes Recessive Autoimmune hepatitis Infections medicine.disease_cause Lymphoid hyperplasia Autoimmunity 03 medical and health sciences 0302 clinical medicine Cytidine Deaminase Immunopathology medicine Activation-induced (cytidine) deaminase Humans Immunology and Allergy Child 030304 developmental biology 0303 health sciences biology business.industry Immunologic Deficiency Syndromes Infant Newborn Infant hyper IgM Cytidine deaminase Middle Aged medicine.disease 3. Good health Immunoglobulin M Child Preschool biology.protein Female Polyarthritis Somatic Hypermutation Immunoglobulin medicine.symptom business 030215 immunology |
| Zdroj: | Clinical Immunology. 110:22-29 |
| ISSN: | 1521-6616 |
| DOI: | 10.1016/j.clim.2003.10.007 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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