Iranian Journal of Allergy, Asthma and Immunology | 卷:21 |
Lipopolysaccharide Responsive Beige-like Anchor Protein Deficiency in a Patient with Autoimmune Lymphoproliferative Syndrome-like Disease Phenotype: A Case Report and Literature Review | |
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