Development of multiple gallstones in a child with lipopolysaccharide-responsive beige-like anchor protein mutation

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Kutlug S., Boztug K., Yıldıran A.

CENTRAL EUROPEAN JOURNAL OF IMMUNOLOGY, cilt.44, sa.3, ss.332-335, 2019 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 44 Sayı: 3
  • Basım Tarihi: 2019
  • Doi Numarası: 10.5114/ceji.2019.89613
  • Dergi Adı: CENTRAL EUROPEAN JOURNAL OF IMMUNOLOGY
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.332-335
  • Anahtar Kelimeler: cholecystectomy, gallstones, common variable immunodeficiency, autoimmune lymphoproliferative syndrome, Evans syndrome, LRBA deficiency, primary immunodeficiency diseases, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, PRIMARY IMMUNODEFICIENCY DISEASES, LRBA DEFICIENCY, IMMUNE DYSREGULATION, UPDATE
  • Ondokuz Mayıs Üniversitesi Adresli: Evet

Özet

A defect in the lipopolysaccharide-responsive beige-like anchor protein (LRBA) gene is a newly defined rare cause of primary immunodeficiency diseases, which manifests as immune dysregulation and humoral immune deficiency. LRBA deficiency is a combined immunodeficiency. A boy with LRBA deficiency is described in this report. He had been diagnosed with Evans syndrome in a haematology clinic. He was referred to an immunology and allergy clinic for frequent respiratory tract infections. He also had hepatosplenomegaly but no lymphadenopathy. Immunological evaluation revealed hypogamma-globulinaemia, increased double-negative T cells, decreased memory B cells and switched B cells, and an inverted CD4/CD8 ratio. LRBA deficiency was considered due to common variable immunodeficiency-autoimmune lymphoproliferative overlap syndrome. A homozygote mutation (c.1964C>T) in LRBA was found through exome sequencing. Gastrointestinal investigation was performed due to unexplained abdominal pain. It revealed atrophic gastritis, partial villous atrophy, and multiple gallstones. There was no chronic diarrhoea or failure to thrive. The abdominal pain disappeared after a cholecystectomy. Multiple gallstones have not been reported in other LRBA-deficient patients who also had autoimmune haemolytic anaemia. Multiple gallstones that require cholecystectomy can develop in LRBA-deficient patients during adolescence.