Interstitial Lung Disease in an Adolescent Girl with Lipopolysaccharide-Responsive Beige-Like Anchor Deficiency

Tugcu G. D., Polat S. E., Metin A., ORHAN D., CİNEL G.

PEDIATRIC ALLERGY IMMUNOLOGY AND PULMONOLOGY, vol.35, no.3, pp.133-138, 2022 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 35 Issue: 3
  • Publication Date: 2022
  • Doi Number: 10.1089/ped.2022.0088
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus, Academic Search Premier, BIOSIS, CAB Abstracts, CINAHL, EMBASE, MEDLINE, Veterinary Science Database
  • Page Numbers: pp.133-138
  • Keywords: interstitial lung disease, lipopolysaccharide responsive beige-like anchor, diagnostic flexible bronchoscopy, lung biopsy, LRBA DEFICIENCY
  • Hacettepe University Affiliated: Yes


Background: Previously, lipopolysaccharide-responsive beige-like anchor (LRBA) deficiency was categorized as a subtype of common variable immune deficiency. Research shows that LRBA deficiency is caused by dysregulation of T cell activation and expansion; it is placed under the category of immune dysregulation with cytotoxic T lymphocyte-associated protein 4 (CTLA-4) haploinsufficiency. Cohort studies have revealed a broad spectrum of clinical manifestations and variable phenotype expression, including immune dysregulation [enteropathy, autoimmune cytopenia, interstitial lung disease (ILD), etc.] on 1 hand and immune deficiency (hypogammaglobulinemia, recurrent infections, bronchiectasis, etc.) on the other hand. Chronic lung disease is frequently seen in LRBA deficiency and is associated with poor outcomes. Case Presentation: This case report evaluates a female who presented with recurrent pneumonia and bronchiectasis but did not respond to treatment; she was lastly diagnosed with ILD with detailed clinical, radiological, and pathological workup. Conclusions: The respiratory characteristics of patients with LRBA deficiency should be investigated, monitored, and treated from the time of its diagnosis. The awareness and involvement of pulmonologists to pulmonary morbidity of patients with LRBA deficiency in workup and clinical decision making are crucial.