Background GLILD is defined as lymphatic infiltrates and granulomata in the lung and is mostly described as a complication of Common Variable Immunodeficiency (CVID). About 58% of patients with CVID develop GLILD and it is associated with early mortality in adults.

Method We describe the clinical, pathological and radiological features of patients using our electronic database in Great Ormond Street Hospital.

Six patients were identified Males and females were equally affected. The age ranged between 4–9 years when the first biopsy confirmed granulomata. They presented with cough (4/6), lymphadenopathy (4/6), hepatosplenomegaly (3/6), Idiopathic Thrombocytopenic Purpura (ITP) (2/6) and recurrent fever (1/6). They all had ground glass reticular appearance with widespread nodules on chest CT scan. The biopsy confirmed non-caseating granuloma in the lung. Granulomatous lesions were also found in the liver in 2/6, spleen and lymph node in one patient. Bone marrow aspiration and trephine showed granuloma (2), hypocellularity (2) and were normal in 2 patients. Lymphocyte subsets showed a low profile in 4/6 with raised double negative T cells in 5/6. Immunoglobulin level was normal in all except two. No Molecular diagnosis was made despite extensive investigation. Viral and microbiological investigations were negative. 4/6 required pulsed methylprednisolone at 10 mg/kg to control the lung disease. Two patients underwent Haemopoietic stem cell treatment (HSCT) due to refractory granulomatous disease and both are alive with significant improvement in pulmonary function.

Conclusion Children with GLILD have a more severe disease in comparison to adults and the majority do not fit the CVID criteria. 67% required intensive treatment with steroids.