Aslı İmran Yılmaz

1 Introduction Monogenic lupus represents a rare and severe form of systemic lupus erythematosus (SLE), typically presenting in early childhood and often associated with primary immunodeficiencies. In particular, combined T- and B-cell defects may underlie complex clinical phenotypes that challenge conventional diagnostic approaches. The overlapping features of autoimmunity and immunodeficiency in these patients highlight the need for detailed genetic and immunologic evaluation [1].

To the editor, A 17-month-old male presented to the emergency department with fever, cough, fatigue, and dyspnea. On examination, he appeared pale and ill, with intercostal retractions and bilateral crackles on lung auscultation. Oxygen saturation was 84% on room air. His weight was below the 3rd percentile. Past medical history was significant for extreme prematurity (25 weeks' gestation) and surgery for necrotizing enterocolitis. Family history was unremarkable.

Cystic fibrosis (CF) is a multisystemic, autosomal recessive disease, which is caused by a mutation in the transmembrane conduction regulator protein (CFTR) gene. We present a patient who was diagnosed with CF and later diagnosed with Niemann-Pick type-A (NPA) disease, which is an autosomal recessive lysosomal lipid storage disease.