Deficiency of ADA2 mimicking autoimmune lymphoproliferative syndrome in the absence of livedo reticularis and vasculitis
| Autor: | Abdulrahman Alsultan, Enas Basher, Majid Alfadhel, Reem Mohammed, Jubran Theeb Alqanatish |
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| Rok vydání: | 2017 |
| Předmět: |
Vasculitis
0301 basic medicine Pathology medicine.medical_specialty Adenosine Deaminase 03 medical and health sciences 0302 clinical medicine Disease severity medicine Humans Point Mutation Exome Stroke Exome sequencing Livedo Reticularis Livedo reticularis 030203 arthritis & rheumatology Polyarteritis nodosa business.industry Autoimmune Lymphoproliferative Syndrome Hematology medicine.disease 030104 developmental biology Oncology Child Preschool Autoimmune lymphoproliferative syndrome Pediatrics Perinatology and Child Health Intercellular Signaling Peptides and Proteins Female Tumor necrosis factor alpha medicine.symptom business |
| Zdroj: | Pediatric Blood & Cancer. 65:e26912 |
| ISSN: | 1545-5009 |
| Popis: | Adenosine deaminase-2 (ADA2) deficiency (DADA2) is associated with early onset polyarteritis nodosa and vasculopathy. Classic presentation includes livedo reticularis, vasculitis, and stroke. However, the phenotype and disease severity are variable. We present a 5-year-old female who presented with features that mimicked autoimmune lymphoproliferative syndrome (ALPS) in the absence of classic features of DADA2. Exome sequencing identified a novel homozygous splicing variant in ADA2 c.882-2A > G. Patient responded to anti- tumor necrosis factor medication and is in complete remission. Hematologists should be aware of various hematological presentations of DADA2, including ALPS-like disorder, that might lack vasculitis and livedo reticularis to prevent delay in initiating optimal therapy. |
| Databáze: | OpenAIRE |
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