Lipopolysaccharide Responsive Beige-like Anchor Protein Deficiency in a Patient with Autoimmune Lymphoproliferative Syndrome-like Disease Phenotype: A Case Report and Literature Review

Iranian Journal of Allergy, Asthma and Immunology

卷:21

Gehad ElGhazali¹  Nida Fatima Sakrani²  Mohammad Fahad Abdallah²  Naser Elzein²  Saja Fetyan²  Fawwaz Yassin²  Gholamreza Azizi³ 

[1] Department of Immunology, Sheikh Khalifa Medical City- Union 71/Purehealth, and Faculty of Medicine, United Arab Emirates University, Al Ain, United Arab Emirates;

[2] Division of Pediatrics, Sheikh Khalifa Medical City, Abu Dhabi, United Arab Emirates;

[3] Non-communicable Diseases Research Center, Alborz University of Medical Sciences, Karaj, Iran;

关键词: Autoimmunity;    Autoimmune lymphoproliferative syndrome;    COVID-19;    Human LRBA protein;    Primary immunodeficiency diseases;    SARS-CoV-2;   

DOI  :  

来源: DOAJ

【 摘 要 】

LPS-responsive beige-like anchor protein (LRBA) deficiency is a primary immunodeficiency caused by a mutation in the LRBA gene. Affected individuals present with a variety of clinical symptoms including hypogammaglobulinemia, recurrent infections, splenomegaly, hepatomegaly, and autoimmune cytopenias. Except for hypogammaglobulinemia, the remaining features resemble autoimmune lymphoproliferative syndrome (ALPS). Here, we report the case of a 14-year-old boy with the ALPS phenotype, eventually diagnosed with LRBA deficiency. He presented with lymphadenopathy and hepatosplenomegaly, along with autoimmune cytopenia. Due to recurrent infections and worsening gastrointestinal symptoms, whole-exome sequencing was conducted and revealed a novel homozygous pathogenic variant in the LRBA gene (c.534del; p.9Asp179IIef*16). The patient recently suffered from clinical deterioration due to SARS-COV-2 which appears to have triggered an acute worsening of his existing Cytomegalovirus colitis leading to an eventual demise. A literature search for reported LRBA deficient patients with ALPS-like phenotype revealed 11 patients. The most common clinical presentations in LRBA patients with ALPS-like phenotype included autoimmunity (100%), splenomegaly (91%), lymphadenopathy (36.4%), and respiratory tract infections (63.6%). LRBA deficiency is unique in the fact that it encompasses immune deficiency, autoimmunity, and lymphoproliferation. In children with multiple symptoms related to these domains, a genetic diagnosis is necessary to ensure tailored and precise medical therapy.

【 授权许可】

Unknown