New therapeutic approach by sirolimus for enteropathy treatment in patients with LRBA deficiency

G Azizi; H Abolhassani; R Yazdani; S Mohammadikhajehdehi; N Parvaneh; B Negahdari; J Mohammadi; A Aghamohammadi

doi:10.23822/EurAnnACI.1764-1489.22

New therapeutic approach by sirolimus for enteropathy treatment in patients with LRBA deficiency

Eur Ann Allergy Clin Immunol. 2017 Sep;49(5):235-239. doi: 10.23822/EurAnnACI.1764-1489.22.

Authors

G Azizi¹, H Abolhassani², R Yazdani³, S Mohammadikhajehdehi⁴, N Parvaneh⁴, B Negahdari⁵, J Mohammadi⁶, A Aghamohammadi⁷

Affiliations

¹ Department of Laboratory Medicine, Imam Hassan Mojtaba Hospital, Alborz University of Medical Sciences, Karaj, Iran. Research Center for Immunodeficiencies, Children's Medical Center, Tehran University of Medical Sciences, Tehran, Iran. Primary Immunodeficiency Diseases Network (PIDNet), Universal Scientific Education and Research Network (USERN), Tehran, Iran.
² Research Center for Immunodeficiencies, Children's Medical Center, Tehran University of Medical Sciences, Tehran, Iran. Primary Immunodeficiency Diseases Network (PIDNet), Universal Scientific Education and Research Network (USERN), Tehran, Iran. Division of Clinical Immunology, Department of Laboratory Medicine, Karolinska Institute at Karolinska University Hospital Huddinge, Stockholm, Sweden.
³ Department of Immunology, School of Medicine, Isfahan University of Medical Sciences, Isfahan, Iran. Department of Laboratory Medicine, Imam Hassan Mojtaba Hospital, Alborz University of Medical Sciences, Karaj, Iran.
⁴ Research Center for Immunodeficiencies, Children's Medical Center, Tehran University of Medical Sciences, Tehran, Iran.
⁵ School of Advanced Technologies in Medicine, Department of Medical Biotechnology, Tehran University of Medical Sciences, Tehran, Iran.
⁶ Department of Biomedical Engineering, Faculty of New Sciences and Technologies, University of Tehran, Tehran, Iran.
⁷ Research Center for Immunodeficiencies, Children's Medical Center, Tehran University of Medical Sciences, Tehran, Iran. E-mail: [email protected].

PMID: 28884992
DOI: 10.23822/EurAnnACI.1764-1489.22

Abstract

Purpose. To report the successful use of sirolimus for management of enteropathy in four patients with LPS-responsive beige-like anchor protein (LRBA) deficiency. Methods. Case series. Results. sirolimus therapy led to a complete improvement of symptoms including decrease in frequency and severity of diarrhea, as well as patients' weight gain. No signs of abdominal cramps and anorexia were also detected during the follow up period after treatment. Conclusions. sirolimus with its potential efficacy and immunomodulatory properties may be recommended for the treatment of severe enteropathy refractory to conventional therapy in patients with LRBA deficiency.

Keywords: LRBA deficiency; Sirolimus; autoimmunity; common variable immune deficiency; enteropathy.

Publication types

Case Reports

MeSH terms

Adaptor Proteins, Signal Transducing / deficiency*
Adaptor Proteins, Signal Transducing / genetics
Adolescent
Adult
Child
Chronic Disease
Diarrhea / diagnosis
Diarrhea / drug therapy*
Diarrhea / genetics
Diarrhea / immunology
Female
Genetic Predisposition to Disease
Humans
Immunologic Deficiency Syndromes / diagnosis
Immunologic Deficiency Syndromes / drug therapy*
Immunologic Deficiency Syndromes / genetics
Immunologic Deficiency Syndromes / immunology
Immunosuppressive Agents / therapeutic use*
Inflammatory Bowel Diseases / diagnosis
Inflammatory Bowel Diseases / drug therapy*
Inflammatory Bowel Diseases / genetics
Inflammatory Bowel Diseases / immunology
Male
Phenotype
Recurrence
Sirolimus / therapeutic use*
Treatment Outcome
Weight Gain
Young Adult

Substances

Adaptor Proteins, Signal Transducing
Immunosuppressive Agents
LRBA protein, human
Sirolimus