Please use this identifier to cite or link to this item: https://observatorio.fm.usp.br/handle/OPI/33539
Title: Primary immunodeficiency with chronic enteropathy and developmental delay in a boy arising from a novel homozygous RIPK1 variant
Authors: UCHIYAMA, YuriKIM, Chong A.PASTORINO, Antonio CarlosCERONI, JoseLIMA, Patricia PicciarelliDORNA, Mayra de BarrosHONJO, Rachel SayuriBERTOLA, DeboraHAMANAKA, KoheiFUJITA, AtsushiMITSUHASHI, SatomiMIYATAKE, SatokoTAKATA, AtsushiMIYAKE, NorikoMIZUGUCHI, TakeshiMATSUMOTO, Naomichi
Citation: JOURNAL OF HUMAN GENETICS, v.64, n.9, p.955-960, 2019
Abstract: Identification of genetic causes of primary monogenic immunodeficiencies would strengthen the current understanding of their immunopathology. Pathogenic variants in genes in association with tumor necrosis factor a (TNF alpha) signaling, including OTULIN, TNFAIP3, RBCK1, and RNF31 cause human congenital autoinflammatory diseases with/without immunodeficiency. RIPK1, encoding a receptor interacting serine/threonine kinase 1, is present in protein complexes mediating signal transduction including TNF receptor 1. Biallelic loss-of-function variants in RIPK1 were recently reported in individuals with primary immunodeficiency with intestinal bowel disease and arthritis. Here, we report a novel homozygous RIPK1 variant in a boy with immunodeficiency and chronic enteropathy. Our patient exhibited severe motor delay and mild intellectual disability, which were previously unknown. The present results are expected to deepen the current understanding of clinical features based on RIPK1 abnormalities.
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Artigos e Materiais de Revistas Científicas - FM/MPE
Departamento de Pediatria - FM/MPE

Artigos e Materiais de Revistas Científicas - HC/ICHC
Instituto Central - HC/ICHC

Artigos e Materiais de Revistas Científicas - HC/ICr
Instituto da Criança - HC/ICr

Artigos e Materiais de Revistas Científicas - LIM/03
LIM/03 - Laboratório de Medicina Laboratorial

Artigos e Materiais de Revistas Científicas - LIM/36
LIM/36 - Laboratório de Pediatria Clínica


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