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[Chronic mucocutaneous candidiasis associated with autoimmunity and ectodermal dysplasia. A case report]
Miguel García-Domínguez1, Hirad Hirad Pérez-Ávila, César Mauricio Rojas-Maruri
1Hospital Pediátrico de Sinaloa, Departamento de Alergia, Inmunología y Reumatología Pediátrica, Sinaloa, México. miguelgarcia.alergia@gmail.com.
Revista Alergia Mexico (Tecamachalco, Puebla, Mexico : 1993)
|September 16, 2021
Summary
APECED syndrome, an inborn error of immunity, involves chronic candidiasis and autoimmunity. Early diagnosis via genetic testing, like AIRE gene sequencing, improves patient outcomes.
Area of Science:
- Immunology
- Genetics
- Endocrinology
Background:
- Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) is an inborn error of immunity.
- Characterized by a triad of chronic mucocutaneous candidiasis, autoimmune conditions, and ectodermal dysplasia.
- Often presents with autoantibodies targeting endocrine and non-endocrine organs.
Observation:
- A 7-year-old girl with European ancestry and consanguinity presented with recurrent infections, chronic candidiasis, colitis, and pancytopenia.
- Clinical presentation suggested an underlying inborn error of immunity.
- Diagnostic suspicion led to genetic investigation.
Findings:
- Next-generation sequencing identified a pathogenic variant in the AIRE gene.
- This confirmed the diagnosis of APECED (autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy).
Implications:
- Advanced genetic tools enable early and accurate diagnosis of inborn errors of immunity.
- Timely diagnosis is crucial for initiating appropriate treatment.
- Early intervention leads to a significantly better prognosis for affected individuals.
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