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Pure red cell aplasia (PRCA) is a rare haematological syndrome characterised by anaemia, reticulocytopenia and severe erythroid hypoplasia without alteration in megakaryocytic and myeloid maturation. Immune system irregularity can be mediated by the presence of autoantibodies against erythroid cells or against erythropoietin (Epo), or by hyperactivity of large granular lymphocytes with enhanced T cell or natural killer cell cytotoxicity.1–3 The association between PRCA and other autoimmune diseases such as autoimmune polyglandular syndrome (APS) I is rare.4
The second autoimmune disease, named APS I or autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED), is a rare hereditary autosomal recessive disorder. It is characterised by the presence of chronic mucocutaneous candidiasis, multiple endocrinopathies (hypoparathyroidism, adrenocortical failure, hypergonadotropic hypogonadism, type I diabetes mellitus and pan-hypopituitarism), and various ectodermal manifestations (enamel dysplasia, nail dystrophy, alopecia, vitiligo and keratopathy).5,6 Clinically, APECED can be confirmed by appearances of at least two of the three features: candidiasis, hypoparathyroidism and adrenocortical failure.5–7 This is the first multiple autoimmune disorder shown to be caused by mutations of a single gene—the autoimmune regulator gene (AIRE).8 This gene was mapped at 22q22.3 and consisted of 14 exons.8 It is expressed in immune-related organs, such as thymus, lymph nodes and fetal liver, indicating that it has a pivotal role in the immune function. Its main role is to act as a transcriptional factor. Over 40 different mutations of the AIRE gene have been identified (point mutations, insertions and deletions).8,9
A 33-year-old woman was admitted to the Institute of Haematology, Belgrade, Serbia, in April 2001 for blood transfusion for the treatment of anaemia. The diagnosis of idiopathic hypoparathyroidism was made at age 7 years. At age 14 years, she developed idiopathic adrenal insufficiency and 2 years later, she developed mucocutaneous candidiasis. Since early infancy, she had …
Published Online First 12 January 2007
Competing interests: None declared.