Unusual Late-onset Enteropathy in a Patient With Lipopolysaccharide-responsive Beige-like Anchor Protein Deficiency

被引：8

作者：

Maggiore, Rosario ^{[1
]}

Grossi, Alice ^{[2
]}

Fioredda, Francesca ^{[1
]}

Palmisani, Elena ^{[1
]}

Terranova, Paola ^{[1
]}

Cappelli, Enrico ^{[1
]}

Lanza, Tiziana ^{[1
]}

Pierri, Filomena ^{[1
]}

Guardo, Daniela ^{[1
]}

Calvillo, Michaela ^{[1
]}

Micalizzi, Concetta ^{[1
]}

Beccaria, Andrea ^{[1
]}

Coccia, Maria C. ^{[3
]}

Arrigo, Serena ^{[4
]}

Dufour, Carlo ^{[1
]}

Ceccherini, Isabella ^{[2
]}

Miano, Maurizio ^{[1
]}

机构：

[1] IRCCS Ist Giannina Gaslini, Haematol Unit, Genoa, Italy

[2] IRCCS Ist Giannina Gaslini, Mol Genet Unit, Genoa, Italy

[3] IRCCS Ist Giannina Gaslini, Pathol Anat Unit, Genoa, Italy

[4] IRCCS Ist Giannina Gaslini, Gastroenterol Unit, Genoa, Italy

来源：

JOURNAL OF PEDIATRIC HEMATOLOGY ONCOLOGY | 2020年 / 42卷 / 08期

关键词：

lipopolysaccharide-responsive beige-like anchor (LRBA); enteropathy; abatacept; autoimmune-hepatitis; immune dysregulation disorders; IMMUNE DYSREGULATION; LRBA; SIROLIMUS; MUTATIONS; DISEASE;

D O I：

10.1097/MPH.0000000000001708

中图分类号：

R73 [肿瘤学];

学科分类号：

100214 ;

摘要：

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.

引用

页码：E768 / E771

页数：4

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