- Hematology
- Severe congenital neutropenia mimicking chronic idiopathic neutropenia: a case report
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Juhyung Kim, Soyoon Hwang, Narae Hwang, Yeonji Lee, Hee Jeong Cho, Joon Ho Moon, Sang Kyun Sohn, Dong Won Baek
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J Yeungnam Med Sci. 2023;40(3):283-288. Published online July 28, 2022
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DOI: https://doi.org/10.12701/jyms.2022.00353
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 Abstract
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- Severe chronic neutropenia is classified as severe congenital, cyclic, autoimmune, or idiopathic. However, there is a lot of uncertainty regarding the diagnosis of severe congenital neutropenia (SCN) and chronic idiopathic neutropenia, and this uncertainty affects further evaluations and treatments. A 20-year-old man presented with fever and knee abrasions after a bicycle accident. On admission, his initial absolute neutrophil count (ANC) was 30/µL. He had no medical history of persistent severe neutropenia with periodic oscillation of ANC. Although his fever resolved after appropriate antibiotic therapy, ANC remained at 80/µL. Bone marrow (BM) aspiration and biopsy were performed, and a BM smear showed myeloid maturation arrest. Moreover, genetic mutation test results showed a heterozygous missense variant in exon 4 of the neutrophil elastase ELANE: c597+1G>C (pV190-F199del). The patient was diagnosed with SCN. After discharge, we routinely checked his ANC level and monitored any signs of infection with minimum use of granulocyte colony-stimulating factor (G-CSF), considering its potential risk of leukemic transformation. Considering that SCN can be fatal, timely diagnosis and appropriate management with G-CSF are essential. We report the case of a patient with SCN caused by ELANE mutation who had atypical clinical manifestations. For a more accurate diagnosis and treatment of severe chronic neutropenia, further studies are needed to elucidate the various clinical features of ELANE.
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Citations
Citations to this article as recorded by  - ПЕРВИННІ МІНОРНІ ІМУНОДЕФІЦИТИ ЯК ПРИЧИНА РОЗВИТКУ ІМУНОЗАЛЕЖНОЇ ПАТОЛОГІЇ У ЛЮДЕЙ: ЕТІОЛОГІЯ, ЕПІДЕМІОЛОГІЯ, КЛАСИФІКАЦІЯ, ДІАГНОСТИКА І ЛІКУВАННЯ (СИСТЕМАТИЧНИЙ ОГЛЯД)
Dmytro Maltsev
Immunology and Allergology: Science and Practice.2024; (3-4): 37. CrossRef
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