Research & Literature

Cyclic neutropenia with a novel gene mutation presenting with a necrotizing soft tissue infection and severe sepsis: case report.

Boo YJ, Nam MH, Lee EH, Lee KC

BMC pediatrics 2015; (15()):34 doi:10.1186/s12887-015-0352-5.

Mosaicism of an ELANE mutation in an asymptomatic mother in a familial case of cyclic neutropenia.

Hirata O, Okada S, Tsumura M, et al.

Journal of clinical immunology 2015; (35(5)):512-6 doi:10.1007/s10875-015-0165-1.

Appendectomy in a child with cyclic neutropenia in profound neutropenic episode.

Glavan N, Roganović J, Glavan-Gačanin L, Jonjić N

Therapeutics and clinical risk management 2015; (11()):1217-9 doi:10.2147/TCRM.S89488.

ELANE mutant-specific activation of different UPR pathways in congenital neutropenia.

Nustede R, Klimiankou M, Klimenkova O, et al.

British journal of haematology 2016; (172(2)):219-27 doi:10.1111/bjh.13823.

Role of CSF3R mutations in the pathomechanism of congenital neutropenia and secondary acute myeloid leukemia.

Klimiankou M, Mellor-Heineke S, Zeidler C, et al.

Annals of the New York Academy of Sciences 2016; (1370(1)):119-25 doi:10.1111/nyas.13097.

Severe congenital cyclic neutropenia: A case report.

Patil VH, Hugar SM, Balikai G, Patil S

International journal of applied & basic medical research 2016; (6(4)):293-296 doi:10.4103/2229-516X.192598.

Allogeneic Transplant in ELANE and MEFV Mutation Positive Severe Cyclic Neutropenia: Review of Prognostic Factors for Secondary Severe Events.

Okolo ON, Katsanis E, Yun S, et al.

Case reports in hematology 2017; (2017()):5375793 doi:10.1155/2017/5375793.

ELANE gene mutation-induced cyclic neutropenia manifesting as recurrent fever with oral mucosal ulcer: A case report.

Chen X, Peng W, Zhang Z, et al.

Medicine 2018; (97(10)):e0031 doi:10.1097/MD.0000000000010031.

[Febrile neutropenia in cancer patients: management in the emergency room].

Rivera-Salgado D, Valverde-Muñoz K, Ávila-Agüero ML

Revista chilena de infectologia : organo oficial de la Sociedad Chilena de Infectologia 2018; (35(1)):62-71 doi:10.4067/s0716-10182018000100062.

Stenotrophomonas maltophilia Necrotizing Soft Tissue Infection in an Immunocompromised Patient.

Stens O, Wardi G, Kinney M, et al.

Case reports in critical care 2018; (2018()):1475730 doi:10.1155/2018/1475730.

[Reference guide for adult chronic neutropenia].

Yokoyama Y, Takami A, Mori Y, et al.

[Rinsho ketsueki] The Japanese journal of clinical hematology 2018; (59(7)):845-857 doi:10.11406/rinketsu.59.845.

Cyclic manner of neutropenia in a patient with HAX-1 mutation.

Cipe FE, Celiksoy MH, Erturk B, Aydogmus Ç

Pediatric hematology and oncology 2018; (35(3)):181-185 doi:10.1080/08880018.2018.1486489.

Factors associated with emergent colectomy in patients with neutropenic enterocolitis.

Vergara-Fernández O, Trejo-Avila M, Solórzano-Vicuña D, et al.

Langenbeck's archives of surgery 2019; (404(3)):327-334 doi:10.1007/s00423-019-01781-2.

Serum biomarkers for sepsis in children with febrile neutropenia and cancer.

Ruggiero A, Pocino K, Catalano M, et al.

Journal of biological regulators and homeostatic agents 2019; (33(3)):999-1003.

Management of tooth extraction in a patient with ELANE gene mutation-induced cyclic neutropenia: A case report.

Aota K, Kani K, Yamanoi T, et al.

Medicine 2019; (98(39)):e17372 doi:10.1097/MD.0000000000017372.

Cyclic Neutropenia From a Novel Mutation Ala57Asp of ELANE: Phenotypic Variability in Neutropenia From Mutated Ala57 Residue.

Park CH, Park S, Kim YJ, et al.

Journal of pediatric hematology/oncology 2020; (42(4)):e231-e234 doi:10.1097/MPH.0000000000001353.

New insights into the pathomechanism of cyclic neutropenia.

Mir P, Klimiankou M, Findik B, et al.

Annals of the New York Academy of Sciences 2020; (1466(1)):83-92 doi:10.1111/nyas.14309.

Clinical and image features: large-vessel vasculitis after granulocyte colony stimulating factor administration.

Sugai Y, Toyoguchi Y, Kanoto M, et al.

Acta radiologica (Stockholm, Sweden : 1987) 2024; (65(4)):383-391 doi:10.1177/0284185120931685.

Side effects of using granulocyte-colony stimulating factors as prophylaxis of febrile neutropenia in cancer patients: A systematic review.

Lapidari P, Vaz-Luis I, Di Meglio A

Critical reviews in oncology/hematology 2021; (157()):103193 doi:10.1016/j.critrevonc.2020.103193.

Management of acute cholecystitis in patient with cyclic neutropenia: a case report.

Nishikawa S, Hamaoka M, Nakahara H, Itamoto T

Surgical case reports 2021; (7(1)):29 doi:10.1186/s40792-021-01117-7.

A Novel Homozygous HAX1 Mutation in a Child With Cyclic Neutropenia: A Case Report and Review.

Tayal A, Meena JP, Kaur R, et al.

Journal of pediatric hematology/oncology 2022; (44(2)):e420-e423 doi:10.1097/MPH.0000000000002110.

Recurrent bacterial infections, but not fungal infections, characterise patients with ELANE-related neutropenia: a French Severe Chronic Neutropenia Registry study.

Rotulo GA, Plat G, Beaupain B, et al.

British journal of haematology 2021; (194(5)):908-920 doi:10.1111/bjh.17695.

Vertebral fracture and splenomegaly in a head and neck cancer producing granulocyte colony-stimulating factor: A case report of systemic complications associated with a cytokine-producing solid tumor.

Kitamura N, Sento S, Sasabe E, et al.

Molecular and clinical oncology 2021; (15(4)):202 doi:10.3892/mco.2021.2364.

Assessment of Congenital Neutropenia in Children: Common Clinical Sceneries and Clues for Management.

Lazzareschi I, Rossi E, Curatola A, et al.

Mediterranean journal of hematology and infectious diseases 2022; (14(1)):e2022008 doi:10.4084/MJHID.2022.008.

Sonographic and Clinical Features of Typhlitis in Pediatric Cancer Patients on Chemotheaphy at Tikur Anbessa Specialized Hospital, Ethiopia, 2021.

Otero HJ, Eshetu S, Zewdneh D, et al.

Ethiopian journal of health sciences 2022; (32(Spec Iss 1)):27-32 doi:10.4314/ejhs.v32i1.5S.

Case report: Five-year periodontal management of a patient with two novel mutation sites in ELANE-induced cyclic neutropenia.

Lao Z, Fu J, Wu Z, et al.

Frontiers in genetics 2022; (13()):972598 doi:10.3389/fgene.2022.972598.

Consensus document on the management of febrile neutropenia in paediatric haematology and oncology patients of the Spanish Society of Pediatric Infectious Diseases (SEIP) and the Spanish Society of Pediatric Hematology and Oncology (SEHOP).

Martínez Campos L, Pérez-Albert P, Ferres Ramis L, et al.

Anales de pediatria 2023; (98(6)):446-459 doi:10.1016/j.anpede.2023.03.010.

Management of febrile neutropenia in immunocompetent children and youth.

Lirette MP, Wright N, Trottier ED, Beck CE

Paediatrics & child health 2023; (28(5)):324-330 doi:10.1093/pch/pxac127.

Cyclic Neutropenia Mimicking Crohn's Disease: Two Case Reports and a Narrative Review.

Guarino AD, Luglio G, Imperatore N, et al.

Journal of clinical medicine 2023; (12(19)) doi:10.3390/jcm12196323.

Differential transcriptional control of hematopoiesis in congenital and cyclic neutropenia patients harboring ELANE mutations.

Zeidler A, Borbaran-Bravo N, Dannenmann B, et al.

Haematologica 2024; (109(5)):1393-1402 doi:10.3324/haematol.2023.284033.

Congenital neutropenia: From lab bench to clinic bedside and back.

Dobrewa W, Bielska M, Bąbol-Pokora K, et al.

Mutation research. Reviews in mutation research 2024; (793()):108476 doi:10.1016/j.mrrev.2023.108476.

Screening for ELANE, HAX1 and GFI1 gene mutations in children with neutropenia and clinical characterization of two novel mutations in ELANE gene.

Komvilaisak P, Yudhasompop N, Kanchanakamhaeng K, et al.

BMC pediatrics 2023; (23(1)):592 doi:10.1186/s12887-023-04428-w.

Novel ELANE Mutation Associated with a Clinical Presentation of Cyclic Neutropenia.

Little KM, Conant JL, Devitt KA, Gardner JA

Journal of the Association of Genetic Technologists 2023; (49(4)):167-170.

Impact of different genetic mutations on granulocyte development and G-CSF responsiveness in congenital neutropenia.

Meng X, Zhang H, Dong L, et al.

Blood advances 2024; (8(7)):1667-1682 doi:10.1182/bloodadvances.2023012171.

The clinical characteristics and risk factors for necrotizing soft tissue infection in children.

Liu J, Chen J, Wang Y, et al.

Pediatric investigation 2024; (8(1)):21-26 doi:10.1002/ped4.12408.

Discerning clinicopathological features of congenital neutropenia syndromes: an approach to diagnostically challenging differential diagnoses.

Parisi X, Bledsoe JR

Journal of clinical pathology 2024; (77(9)):586-604 doi:10.1136/jcp-2022-208686.

Genetic backgrounds and clinical characteristics of congenital neutropenias in Israel.

Yeshareem L, Yacobovich J, Lebel A, et al.

European journal of haematology 2024; (113(2)):146-162 doi:10.1111/ejh.14197.

Clinical relevance of SCN and CyN induced by ELANE mutations: a systematic review.

Xiao Y, Wang N, Jin X, et al.

Frontiers in immunology 2024; (15()):1349919 doi:10.3389/fimmu.2024.1349919.

The Bloody Crossroads: Interactions between Periodontitis and Hematologic Diseases.

Łobacz M, Mertowska P, Mertowski S, et al.

International journal of molecular sciences 2024; (25(11)) doi:10.3390/ijms25116115.

Chemotherapy-Induced Jejunal Perforations as an Atypical Presentation of Neutropenic Enterocolitis in an Acute Leukemia Patient.

Zvizdic Z, Jonuzi A, Pilav L, et al.

Cureus 2024; (16(10)):e71636 doi:10.7759/cureus.71636.

Cyclic neutropenia: a case report and literature review.

Li JL, Zhao JJ, Li RJ, et al.

American journal of translational research 2025; (17(2)):1153-1161 doi:10.62347/OLFS3168.

Critical Complication in Childhood Leukemia: Neutropenic Enterocolitis, Risk Factors, and Outcomes.

Koca Yozgat A, Kilçik RD, Çetin S, et al.

Journal of pediatric hematology/oncology 2025; (47(6)):e231-e234 doi:10.1097/MPH.0000000000003064.

Management of Neutropenic Fever in Persons with Cancer.

Doyle-Lindrud S

The Nursing clinics of North America 2025; (60(3)):479-489 doi:10.1016/j.cnur.2024.09.004.

Efficacy and Safety of Pegfilgrastim in Patients With Severe Congenital Neutropenia.

Movahedi M, Moradi L, Alizadeh Z, et al.

EJHaem 2025; (6(6)):e70198 doi:10.1002/jha2.70198.

Neutropenia: Evaluation and Management in the Primary Care Setting.

Kim MJ, Forlini C, Kremsreiter K

American family physician 2025; (112(6)):618-628.

Two rare case reports of familial cyclic neutropenia caused by ELANE gene mutation.

Wang K, Huang W, Zhu J

Medicine 2026; (105(3)):e42201 doi:10.1097/MD.0000000000042201.

Necrotizing Soft Tissue Infection at a Self-Administered Subcutaneous Etanercept Injection Site in an Immunosuppressed Patient With Rheumatoid Arthritis: A Case Report.

Tai S, Takemoto M, Yamamoto Y, et al.

Cureus 2026; (18(1)):e100765 doi:10.7759/cureus.100765.

Life-threatening cervical necrotizing fasciitis caused by congenital pyriform sinus fistula: A case report.

Huang S, Chen Y, Teng Y, et al.

IDCases 2026; (43()):e02529 doi:10.1016/j.idcr.2026.e02529.

A case report of de novo ELANE c.416C>T mutation causing cyclic neutropenia in a 7-year-old girl.

Chen R, Xu Z, Zhang F

Frontiers in immunology 2026; (17()):1815284 doi:10.3389/fimmu.2026.1815284.