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

Dinai Lalnghinglovi Solo; Likta N. Jimo; Don William K. Muti; Namganglung Golmei

doi:10.18203/2349-3291.ijcp20242032

Authors

Dinai Lalnghinglovi Solo Department of Pediatrics, Regional Institute of Medical Sciences, Imphal, Manipur, India
Likta N. Jimo Department of Pediatrics, Regional Institute of Medical Sciences, Imphal, Manipur, India
Don William K. Muti Department of Pediatrics, Regional Institute of Medical Sciences, Imphal, Manipur, India
Namganglung Golmei Department of Pediatrics, Regional Institute of Medical Sciences, Imphal, Manipur, India

DOI:

https://doi.org/10.18203/2349-3291.ijcp20242032

Keywords:

Cyclic neutropenia, Juvenile systemic lupus erythematosus, ELANE gene mutation, Recurrent infection

Abstract

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.

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