| Full text | |
| Author(s): |
Natascha Silva Sandy
[1]
;
Lia Furlaneto Marega
[2]
;
Giane Dantas Bechara
[3]
;
Adriana Gut Lopes Riccetto
[4]
;
Carmen Bonfim
[5]
;
Maria Marluce dos Santos Vilela
[6]
;
Antonio Fernando Ribeiro
[7]
;
Maria De Fatima Servidoni
[8]
;
Elizete Aparecida Lomazi
[9]
Total Authors: 9
|
| Affiliation: | [1] University of Toronto - Canadá
[2] Universidade de Campinas - Brasil
[3] Universidade de Campinas - Brasil
[4] Universidade de Campinas - Brasil
[5] Hospital Pequeno Príncipe - Brasil
[6] Universidade de Campinas - Brasil
[7] Universidade de Campinas - Brasil
[8] Universidade de Campinas - Brasil
[9] Universidade de Campinas - Brasil
Total Affiliations: 9
|
| Document type: | Journal article |
| Source: | Revista Paulista de Pediatria; v. 40, 2021-10-29. |
| Abstract | |
ABSTRACT 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. (AU) | |
| FAPESP's process: | 16/25615-6 - Identification of critical molecular targets associated with the etiology and pathophysiology of Primary Immunodeficiencies with emphasis on clinical manifestations of inflammation, immunodysregulation and autoimmunity |
| Grantee: | Maria Marluce dos Santos Vilela |
| Support Opportunities: | Regular Research Grants |