Congenital rubella syndrome, hyper‐IgM syndrome and autoimmunity in an 18‐year‐old girl

• Published in: Journal of paediatrics and child health Vol. 43; no. 10; pp. 716 - 718
• Main Authors: Palacin, Pere Soler, Castilla, Yolanda, Garzón, Paula, Figueras, Concepció, Castellví, Joan, Español, Teresa
• Format: Journal Article
• Language: English
• Published: Melbourne, Australia Blackwell Publishing Asia 01.10.2007
• Subjects: Adolescent; Autoimmunity; congenital rubella syndrome; Female; Humans; Hyper-IgM Immunodeficiency Syndrome - complications; Hyper-IgM Immunodeficiency Syndrome - immunology; hyper‐IgM syndrome; Immunoglobulins, Intravenous; Infant; Rubella Syndrome, Congenital - complications; Rubella Syndrome, Congenital - immunology
• ISSN: 1034-4810; 1440-1754
• DOI: 10.1111/j.1440-1754.2007.01144.x

:  Congenital rubella syndrome can be associated with disgammaglobulinaemia and autoimmune phenomena in adult and paediatric population. The aim of this article is to present the association between a congenital rubella syndrome with hypogammaglobulinaemia and hyper IgM diagnosed at the age of 8 months and autoimmune manifestations in an 18‐year‐old girl. A medical chart review of this patient since admission at our institution at 8 months of age was carried out. During infancy she presented the classical manifestations of a rubella syndrome (sensorineural deafness and brain calcifications in basal ganglia) with respiratory and gastrointestinal infections. She was also diagnosed of localised scleroderma and thyroiditis. She has been on intravenous immunoglobulin since diagnosis, with rapid normalisation of IgG and IgM levels, decreased incidence of infectious processes, but with persistent autoimmune phenomena. At 18 years of age she was admitted because of a thyroid mass. Fine needle aspiration biopsy was not conclusive and thyroidectomy was performed. Pathology studies showed no malignancy. She is now on replacement therapy with thyroid hormones. Our aim is to emphasise the importance of the association between autoimmune phenomena in patients with immunodeficiencies, even secondary to some infections, and the increased frequency of malignancies owing to the persistent immunologic defect in this syndrome.