Identifying Novel Mutations in Iranian Patients with LPS-responsive Beige-like Anchor Protein (LRBA) Deficiency

ABSTRACT

LPS-responsive beige-like anchor protein (LRBA) deficiency is a monogenic primary immunodeficiency characterized by a heterogeneous spectrum of clinical manifestations associated with immune dysregulation. In this study, we reported clinical, immunologic, and genetic evaluation of two Iranian patients from unrelated families, both suffering from recurrent respiratory tract infections, failure to thrive, interstitial lung disease, autoimmune cytopenia, and hypogammaglobulinemia. Pulmonary abscess in one patient and persistent enteropathy in another were also observed. Further investigations revealed causative mutations in the exon (c.2166_2766del) and intron (c.4730–3 T > G) of the LRBA gene. These results may provide further elucidation of the clinical phenotypes and responsible genetic factors of LRBA deficiency.

KEYWORDS:

• LPS-responsive beige-like anchor protein deficiency
• LRBA
• immune dysregulation
• autoimmunity
• enteropathy

Acknowledgments

We thank Professor Sophie Hambleton and her professional team at Newcastle University and Mohammad Keramatipour at Pishgamlab laboratory for assistance with genetic analyses.

Disclosure statement

The authors declare that they have no conflict of interest.

Ethics statement

Informed consent was obtained from the parents of the patients prior to being included in the study.

Supplementary material

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