Case Report Pure red cell aplasia and the syndrome of multiple endocrine gland insufficiency

Pure Red Cell Aplasia (PRCA) and Cerebellar Hypoplasia as Atypical Features of Polyglandular Autoimmune Syndrome Type I (APS-1): Two Sisters With the Same AIRE Mutation but Different Phenotypes

“…Only 8 cases of PRCA associated with APS-1 have been reported in the literature. In most cases the onset of PRCA occurs during the course of the disease, in adulthood, after the development of the typical manifestations of the APS-1 (8–12). In literature only 3 children with PRCA and APS-1 have been reported.…”

“…The therapy of PRCA associated with APS-1 is currently not standardized due to the rarity of the disease. In the cases reported in the literature the therapy that was used with good results was corticosteroid (12–14), cyclophosphamide (11–13), mycophenolate mofetil (10), plasmapheresis (13), immunoglobulin (8, 13, 14), cyclosporine (8), antithymocyte globulin (ATG) (8). In our patient, no benefit was obtained by treatment with immunoglobulin, corticosteroid, and erythropoietin therapy.…”

Response of Pure Red Cell Aplasia to Cyclophosphamide After Failure of Mycofenolate Mofetil in a Patient With Polyglandular Syndrome Type I

“…[7][8][9][10][11] The most recent publication reports the effectiveness of MMF treatment for PRCA in a 32-year-old woman with a classic clinical presentation of APS-1 in early childhood. 10 Obviously, MMF, characterized by low toxicity, seems to be a much more attractive drug for our patient, particularly in the presence of kidney abnormalities, compared with CsA, which is generally used for autoimmune PRCA treatment.…”

“…6 PRCA is an extremely rare disorder in APS-1 patients and, to our knowledge, has been described in only 5 patients to date. [7][8][9][10][11] Fifty-two patients with diagnosed APS-1 have been investigated and followed at the Institute of Pediatric Endocrinology of Russia during the past 10 years. Partial clinical and genetic data were published recently.…”

Erythropoietin‐deficient anemia associated with autoimmune polyglandular syndrome type I

“…Pernicious anemia is seen in up to 16% of APECED patients, but other forms of anemia have been occasionally noted as well [13]. Three cases of autoimmune hemolytic anemia [14,15], one case of pure red cell aplasia [16], and one case of splenomegaly with pancytopenia [17] have been reported in association with APECED. In the present report we describe a patient with APCED who developed a severe symptomatic isolated normocytic, hypoproliferative anemia that was responsiveness to treatment with exogenous erythropoietin.…”