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Clinical, Immunologic, and Molecular Spectrum of Patients with LPS-Responsive Beige-Like Anchor Protein Deficiency: A Systematic Review

Título de la revista
Habibi S.
Zaki-Dizaji M.
Rafiemanesh H.
Lo B.
Jamee M.
Gámez-Díaz L.
Salami F.
Kamali A.N.
Mohammadi H.
Abolhassani H.



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Título del volumen
American Academy of Allergy, Asthma and Immunology


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Background: LPS-responsive beige-like anchor protein (LRBA) deficiency is a primary immunodeficiency and immune dysregulation syndrome caused by biallelic mutations in the LRBA gene. These mutations usually abrogate the protein expression of LRBA, leading to a broad spectrum of clinical phenotypes including autoimmunity, chronic diarrhea, hypogammaglobulinemia, and recurrent infections. Objective: Our aim was to systematically collect all studies reporting on the clinical manifestations, molecular and laboratory findings, and management of patients with LRBA deficiency. Methods: We searched in PubMed, Web of Science, and Scopus without any restrictions on study design and publication time. A total of 109 LRBA-deficient cases were identified from 45 eligible articles. For all patients, demographic information, clinical records, and immunologic and molecular data were collected. Results: Of the patients with LRBA deficiency, 93 had homozygous and 16 had compound heterozygous mutations in LRBA. The most common clinical manifestations were autoimmunity (82%), enteropathy (63%), splenomegaly (57%), and pneumonia (49%). Reduction in numbers of CD4+ T cells and regulatory T cells as well as IgG levels was recorded for 21.6%, 65.6%, and 54.2% of evaluated patients, respectively. B-cell subpopulation analysis revealed low numbers of switched-memory and increased numbers of CD21low B cells in 73.5% and 77.8% of patients, respectively. Eighteen (16%) patients underwent hematopoietic stem cell transplantation due to the severity of complications and the outcomes improved in 13 of them. Conclusions: Autoimmune disorders are the main clinical manifestations of LRBA deficiency. Therefore, LRBA deficiency should be included in the list of monogenic autoimmune diseases, and screening for LRBA mutations should be routinely performed for patients with these conditions. © 2019 American Academy of Allergy, Asthma and Immunology
Palabras clave
ADP ribosyl cyclase/cyclic ADP ribose hydrolase 1 , Azathioprine , CD19 antigen , CD27 antigen , CD45RA antigen , CD45RO antigen , Complement component C3d receptor , Corticosteroid , Cyclosporine , Immunoglobulin , Immunoglobulin A , Immunoglobulin D , Immunoglobulin M , Mycophenolate mofetil , Rapamycin , Salazosulfapyridine , Steroid , Tacrolimus , Arab , Article , Autoimmune disease , B lymphocyte subpopulation , CD4 lymphocyte count , Chronic diarrhea , Clinical evaluation , Clinical feature , Delayed diagnosis , Drug megadose , Enteropathy , Gastrectomy , Gene , Gene mutation , Genetic screening , Genotype phenotype correlation , Hematopoietic stem cell transplantation , Hormone substitution , Human , Idiopathic thrombocytopenic purpura , Immune deficiency , Immune dysregulation , Immunoglobulin blood level , Immunoglobulin deficiency , Inflammation , Iranian people , Low drug dose , LPS responsive and beige like anchor protein deficiency , LRBA gene , Multiple organ failure , Nephroblastoma , Pancytopenia , Patient care planning , Pneumonia , Protein deficiency , Protein expression , Recurrent infection , Regulatory T lymphocyte , Respiratory failure , Sepsis , Septic shock , Splenomegaly , Stomach adenocarcinoma , Systematic review , Systemic inflammatory response syndrome , Turk (people) , Autoimmunity , Enteropathy , Hematopoietic stem cell transplantation , LRBA deficiency , Polyautoimmunity , Regulatory T cell