Elevated IgA and IL-10 levels in very-early-onset inflammatory bowel disease secondary to IL-10 receptor deficiency
| Autor: | Natascha Silva Sandy, Lia Furlaneto Marega, Giane Dantas Bechara, Adriana Gut Lopes Riccetto, Carmen Bonfim, Maria Marluce dos Santos Vilela, Antonio Fernando Ribeiro, Maria De Fatima Servidoni, Elizete Aparecida Lomazi |
|---|---|
| Rok vydání: | 2022 |
| Předmět: |
medicine.medical_specialty
Sequenciamento completo do exoma Técnicas genéticas Case Report Criança Doenças inflamatórias intestinais Inflammatory bowel diseases Compound heterozygosity Pediatrics Gastroenterology Inflammatory bowel disease RJ1-570 Exon Immunophenotyping Primary immunodeficiency diseases Internal medicine medicine Child Receptor Exome sequencing business.industry Whole exome sequencing medicine.disease Doenças da imunodeficiência primária Transplantation Interleukin 10 Pediatrics Perinatology and Child Health Genetic techniques business |
| Zdroj: | Revista Paulista de Pediatria Revista Paulista de Pediatria, Vol 40 (2021) |
| ISSN: | 1984-0462 0103-0582 |
| DOI: | 10.1590/1984-0462/2022/40/2020434 |
| Popis: | Objective: To report two patients with very-early-onset inflammatory bowel disease (VEOIBD) secondary to interleukin-10 receptor (IL-10R) mutations, explore immunophenotyping data and plasma cytokine profile on these cases compared to healthy controls, and describe the phenotype of IL-10/IL-10R mutations based on a literature review. Case description: We report on two female infants referred to our tertiary center at the age of ten months, with severe colonic and perianal disease, as well as significant malnutrition, who had shown limited response to usual inflammatory bowel disease (IBD) therapy agents. In the first case, whole-exome sequencing (WES) revealed a homozygous (c.537G>A/p.T179T) mutation in exon 4 of the IL-10RA gene, while in the second patient, compound heterozygosity was identified, also in the IL-10RA gene (chr11:117.859.199 variant A>G/p.Tyr57Cys and chr11: 117.860.335 variant G>T/p.Val123Leu). Both patients underwent hematopoietic cell transplantation (HCT). Immunological work-up of these patients revealed increased IL-10 plasma levels and increased IgA. Comments: Our case reports disclose novel findings on plasma cytokine profile in IL-10R deficiency, and we describe the severe phenotype of IL-10/IL-10R deficiency that should be recognized by physicians. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|