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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Wiley
2019-01-01
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| Series: | Case Reports in Immunology |
| Online Access: | http://dx.doi.org/10.1155/2019/8746249 |
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| _version_ | 1850216477664215040 |
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| author | Tatyana Gavrilova |
| author_facet | Tatyana Gavrilova |
| author_sort | Tatyana Gavrilova |
| collection | DOAJ |
| description | 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. |
| format | Article |
| id | doaj-art-3c38c6b4e537404aa468aa32d2e443a3 |
| institution | OA Journals |
| issn | 2090-6609 2090-6617 |
| language | English |
| publishDate | 2019-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Case Reports in Immunology |
| spelling | doaj-art-3c38c6b4e537404aa468aa32d2e443a32025-08-20T02:08:18ZengWileyCase Reports in Immunology2090-66092090-66172019-01-01201910.1155/2019/87462498746249Primary Immunodeficiency with Severe Multi-Organ Immune DysregulationTatyana Gavrilova0Assistant Professor, Albert Einstein College of Medicine, Attending in Medicine and Pediatrics, Division of Allergy and Immunology, Montefiore Medical Center, Bronx, NY, USAPolyglandular 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.http://dx.doi.org/10.1155/2019/8746249 |
| spellingShingle | Tatyana Gavrilova Primary Immunodeficiency with Severe Multi-Organ Immune Dysregulation Case Reports in Immunology |
| title | Primary Immunodeficiency with Severe Multi-Organ Immune Dysregulation |
| title_full | Primary Immunodeficiency with Severe Multi-Organ Immune Dysregulation |
| title_fullStr | Primary Immunodeficiency with Severe Multi-Organ Immune Dysregulation |
| title_full_unstemmed | Primary Immunodeficiency with Severe Multi-Organ Immune Dysregulation |
| title_short | Primary Immunodeficiency with Severe Multi-Organ Immune Dysregulation |
| title_sort | primary immunodeficiency with severe multi organ immune dysregulation |
| url | http://dx.doi.org/10.1155/2019/8746249 |
| work_keys_str_mv | AT tatyanagavrilova primaryimmunodeficiencywithseveremultiorganimmunedysregulation |