Primary Immunodeficiency with Severe Multi-Organ Immune Dysregulation
Polyglandular autoimmune syndrome type 1, also known as autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED), is a rare primary immunodeficiency disorder with multi-organ involvement. Besides for being predisposed to severe life-threatening infections, patients with APECED are als...
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| Format: | Article |
| Language: | English |
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Hindawi Limited
2019-01-01
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| Series: | Case Reports in Immunology |
| Online Access: | http://dx.doi.org/10.1155/2019/8746249 |
| Summary: | Polyglandular autoimmune syndrome type 1, also known as autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED), is a rare primary immunodeficiency disorder with multi-organ involvement. Besides for being predisposed to severe life-threatening infections, patients with APECED are also prone to organ impairment secondary to severe autoimmunity. As this is an autosomal recessive disorder, a biallelic mutation in the AIRE gene is responsible for APECED. The author presents a case of APECED with a single AIRE mutation. Whole exome sequencing identified a mutation in the BTNL2 gene that the author suggests may have contributed to the patient’s presentation. |
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| ISSN: | 2090-6609 2090-6617 |