SRP54-related congenital neutropenia: a multidisciplinary effort

A previously healthy Caucasian man in his 30s presented with a 9-week history of productive cough, fever and dyspnoea, initially treated as pneumonia with transient improvement. Examination revealed coarse right-sided crepitations and finger clubbing. Laboratory testing demonstrated persistent severe neutropenia and elevated inflammatory markers, while imaging showed persistent right middle lobe consolidation. Further history revealed recurrent respiratory infections, diarrhoea and poor dentition since childhood, with medical records showing possible neutrophil migration defect. The patient received 6 weeks of broad-spectrum antibiotics and granulocyte-colony stimulating factor, resulting in resolution of consolidation and modest neutrophil recovery. Acquired causes of immunosuppression were excluded through microbiological and immunological workup. Stool testing confirmed pancreatic exocrine insufficiency. Genetic testing identified a pathogenic heterozygous signal recognition particle-54 mutation, consistent with Shwachman Diamond-like syndrome. Given the risk of leukaemic transformation, the patient was referred for haematopoietic stem cell transplantation. This case underscores the need for a multidisciplinary approach to manage rare neutropenic syndromes.