Publication:

ELANE gene mutation related cyclic neutropenia with childhood systemic lupus erythematosus: a case report

ELANE related neutropenia includes congenital and cyclic neutropenia which are primary haematological disorders characterised by recurrent fever, skin and oropharyngeal inflammation (i.e., mouth ulcers, gingivitis, sinusitis, and pharyngitis). A congenital cyclic neutropenia syndrome is a rare genetic disorder characterised by a cyclic reduction in the granulocyte proliferation pool in the bone marrow followed by the onset of neutropenia. Patients suffering from this disorder are susceptible to infections and clinically presents at early age. Patients having ELANE mutation combined with autoimmune diseases may have recurrent infections. This was a case report of a 3-year and 6-month-old female child presenting with recurrent pneumonia and oral ulcer. She had ELANE gene mutation associated cyclic neutropenia and was later diagnosed with childhood-onset systemic lupus erythematosus. Hence, it is important to identify rare causes of immunosuppressive conditions in children presenting with recurrent infections to prevent several long-term complications.