Caspase-8 deficiency-a rare cause of immune dysregulation – First case report from India
| Autor: | Akshaya Sanjay Chougule, Vijaya Gowri, Prasad Taur, Vaishnavi Venkatachari Iyengar, Manisha R. Madkaikar, Mukesh M. Desai |
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| Rok vydání: | 2023 |
| Zdroj: | Wadia Journal of Women and Child Health. 2:30-33 |
| ISSN: | 2833-0277 2834-0531 |
| DOI: | 10.25259/wjwch_29_2022 |
| Popis: | A 3½-year-old boy presented with generalized lymphadenopathy since 1 year of age. After 5 months of age, he had multiple infections and two episodes of pneumonia. At 2½ years, he developed chronic diarrhea. Colonoscopy showed ileal ulcers and inflammatory pan colitis with skip areas and histopathologic examination showed mild chronic ileitis, villous shortening, and diffused active colitis. Next-generation sequencing revealed a previously reported homozygous missense mutation Caspase-8. Unlike autoimmune lymphoproliferative syndrome, Caspase-8 deficiency states have immunodeficiency, autoimmunity, and early-onset inflammatory bowel disease in addition to lymphoproliferation. Early diagnosis aided by molecular confirmation is essential as haploidentical hematopoietic stem cell transplant is curative. |
| Databáze: | OpenAIRE |
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