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

Abstract

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.

Infections May Have a Protective Role in the Etiopathogenesis of Celiac Disease

“…The association of autoimmune diseases and rubella virus is demonstrated by the possible association of congenital rubella syndrome with dysgammaglobulinaemia and autoimmune phenomena (such as scleroderma and thyroiditis) in adults and in the pediatric population, 31 and by the association between vaccination with measles, mumps, and rubella vaccine (MMR) and the development of arthritis and thrombocytopenia in several case reports 32…”

Identification of Germinal Centres in the Lymph Node of a Patient with Hyperimmunoglobulin M Syndrome Associated with Congenital Rubella

“…Several patients with possible rHIM have been described in the past [8][9][10][18][19][20][21]. The majority were described before the molecular defect for XHIM was identified.…”

“…The hyper IgM syndrome has been described very rarely in patients with congenital rubella [7][8][9][10][11]. We have named this disorder rHIM [12].…”

Letters to the Editor

“…We appreciate Dr Kemp's letter regarding the case report ‘Congenital rubella syndrome, hyper IgM and autoimmunity in an 18‐year‐old girl’ 1 published in your journal last October.…”