Unusual Late-onset Enteropathy in a Patient With Lipopolysaccharide-responsive Beige-like Anchor Protein Deficiency
| Autor: | Francesca Fioredda, Concetta Micalizzi, Enrico Cappelli, Elena Palmisani, Michaela Calvillo, Serena Arrigo, Tiziana Lanza, Filomena Pierri, Isabella Ceccherini, Maurizio Miano, Rosario Maggiore, Maria C Coccia, Daniela Guardo, Andrea Beccaria, Alice Grossi, Carlo Dufour, Paola Terranova |
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| Rok vydání: | 2019 |
| Předmět: |
Male
Protein-Losing Enteropathies chemical and pharmacologic phenomena medicine.disease_cause LRBA Autoimmunity Abatacept 03 medical and health sciences 0302 clinical medicine Immune system Antigen Protein Deficiency medicine Humans CTLA-4 Antigen Enteropathy Age of Onset Adaptor Proteins Signal Transducing business.industry Common variable immunodeficiency Immunologic Deficiency Syndromes Hematology Immune dysregulation Prognosis medicine.disease Oncology Child Preschool 030220 oncology & carcinogenesis Pediatrics Perinatology and Child Health Immunology business Immunosuppressive Agents 030215 immunology medicine.drug |
| Zdroj: | Journal of Pediatric Hematology/Oncology. 42:e768-e771 |
| ISSN: | 1077-4114 |
| DOI: | 10.1097/mph.0000000000001708 |
| Popis: | In recent years, monogenic causes of immune dysregulation syndromes, with variable phenotypes, have been documented. Mutations in the lipopolysaccharide-responsive beige-like anchor (LRBA) protein are associated with common variable immunodeficiency, autoimmunity, chronic enteropathy, and immune dysregulation disorders. The LRBA protein prevents degradation of cytotoxic T-lymphocyte antigen 4 (CTLA4) protein, thus inhibiting immune responses. Both LRBA and CTLA4 deficiencies usually present with immune dysregulation, mostly characterized by autoimmunity and lymphoproliferation. In this report, we describe a patient with an atypical clinical onset of LRBA deficiency and the patient's response to abatacept, a fusion protein-drug that mimics the action of CTLA4. |
| Databáze: | OpenAIRE |
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