Research & Literature

JAGN1 Deficient Severe Congenital Neutropenia: Two Cases from the Same Family.

Baris S, Karakoc-Aydiner E, Ozen A, et al.

Journal of clinical immunology 2015; (35(4)):339-43 doi:10.1007/s10875-015-0156-2.

Stem cell transplantation in severe congenital neutropenia: an analysis from the European Society for Blood and Marrow Transplantation.

Fioredda F, Iacobelli S, van Biezen A, et al.

Blood 2015; (126(16)):1885-92; quiz 1970 doi:10.1182/blood-2015-02-628859.

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.

GM-CSF treatment is not effective in congenital neutropenia patients due to its inability to activate NAMPT signaling.

Koch C, Samareh B, Morishima T, et al.

Annals of hematology 2017; (96(3)):345-353 doi:10.1007/s00277-016-2894-5.

Severe congenital neutropenias.

Skokowa J, Dale DC, Touw IP, et al.

Nature reviews. Disease primers 2017; (3()):17032 doi:10.1038/nrdp.2017.32.

How to differentiate congenital from noncongenital chronic neutropenia at the first medical examination? Proposal of score: A pilot study from the French Severe Chronic Neutropenia registry.

Bejjani N, Beaupain B, Bertrand Y, et al.

Pediatric blood & cancer 2017; (64(12)) doi:10.1002/pbc.26722.

Febrile Neutropenia in Children with Cancer: Approach to Diagnosis and Treatment.

Kebudi R, Kizilocak H

Current pediatric reviews 2018; (14(3)):204-209 doi:10.2174/1573396314666180508121625.

Next-Generation Sequencing Reveals A JAGN1 Mutation in a Syndromic Child With Intermittent Neutropenia.

Cifaldi C, Serafinelli J, Petricone D, et al.

Journal of pediatric hematology/oncology 2019; (41(4)):e266-e269 doi:10.1097/MPH.0000000000001256.

JAGN1 is required for fungal killing in neutrophil extracellular traps: Implications for severe congenital neutropenia.

Khandagale A, Lazzaretto B, Carlsson G, et al.

Journal of leukocyte biology 2018; (104(6)):1199-1213 doi:10.1002/JLB.4A0118-030RR.

Clinical, Laboratory, and Molecular Characteristics and Remission Status in Children With Severe Congenital and Non-congenital Neutropenia.

Gong RL, Wu J, Chen TX

Frontiers in pediatrics 2018; (6()):305 doi:10.3389/fped.2018.00305.

Novel HAX1 Gene Mutation in a Vietnamese Boy with Severe Congenital Neutropenia.

Tran TT, Vu QV, Wada T, et al.

Case reports in pediatrics 2018; (2018()):2798621 doi:10.1155/2018/2798621.

Ultra-Sensitive CSF3R Deep Sequencing in Patients With Severe Congenital Neutropenia.

Klimiankou M, Uenalan M, Kandabarau S, et al.

Frontiers in immunology 2019; (10()):116 doi:10.3389/fimmu.2019.00116.

CRISPR/Cas9-mediated ELANE knockout enables neutrophilic maturation of primary hematopoietic stem and progenitor cells and induced pluripotent stem cells of severe congenital neutropenia patients.

Nasri M, Ritter M, Mir P, et al.

Haematologica 2020; (105(3)):598-609 doi:10.3324/haematol.2019.221804.

Screening of genetic variants in ELANE mutation negative congenital neutropenia by next generation sequencing.

Arunachalam AK, Suresh H, Edison ES, et al.

Journal of clinical pathology 2020; (73(6)):322-327 doi:10.1136/jclinpath-2019-206306.

HSCT may lower leukemia risk in ELANE neutropenia: a before-after study from the French Severe Congenital Neutropenia Registry.

Rotulo GA, Beaupain B, Rialland F, et al.

Bone marrow transplantation 2020; (55(8)):1614-1622 doi:10.1038/s41409-020-0800-1.

A rare case of syndromic severe congenital neutropenia: JAGN1 mutation.

Çipe FE, Aydoğmuş Ç, Baskın K, et al.

The Turkish journal of pediatrics 2020; (62(2)):326-331.

Evaluation of periodontal status and cytokine/chemokine profile of GCF in patients with severe congenital neutropenia.

Acar B, Cagdas D, Tan Ç, et al.

Odontology 2021; (109(2)):474-482 doi:10.1007/s10266-020-00565-1.

Malignant Transformation Involving CXXC4 Mutations Identified in a Leukemic Progression Model of Severe Congenital Neutropenia.

Olofsen PA, Fatrai S, van Strien PMH, et al.

Cell reports. Medicine 2020; (1(5)):100074 doi:10.1016/j.xcrm.2020.100074.

Severe congenital neutropenia-associated JAGN1 mutations unleash a calpain-dependent cell death programme in myeloid cells.

Khandagale A, Holmlund T, Entesarian M, et al.

British journal of haematology 2021; (192(1)):200-211 doi:10.1111/bjh.17137.

Incorporation of somatic panels for the detection of haematopoietic transformation in children and young adults with leukaemia predisposition syndromes and with acquired cytopenias.

Noy-Lotan S, Krasnov T, Dgany O, et al.

British journal of haematology 2021; (193(3)):570-580 doi:10.1111/bjh.17285.

Kostmann Syndrome With Neurological Abnormalities: A Case Report and Literature Review.

Lyu B, Lyu W, Zhang X

Frontiers in pediatrics 2020; (8()):586859 doi:10.3389/fped.2020.586859.

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.

Chronic neutropenia: how best to assess severity and approach management?

Donadieu J, Frenz S, Merz L, et al.

Expert review of hematology 2021; (14(10)):945-960 doi:10.1080/17474086.2021.1976634.

Congenital neutropenia: disease models guiding new treatment strategies.

Touw IP

Current opinion in hematology 2022; (29(1)):27-33 doi:10.1097/MOH.0000000000000696.

Truncated CSF3 receptors induce pro-inflammatory responses in severe congenital neutropenia.

Olofsen PA, Bosch DA, de Looper HWJ, et al.

British journal of haematology 2023; (200(1)):79-86 doi:10.1111/bjh.18477.

Guideline for the Management of Fever and Neutropenia in Pediatric Patients With Cancer and Hematopoietic Cell Transplantation Recipients: 2023 Update.

Lehrnbecher T, Robinson PD, Ammann RA, et al.

Journal of clinical oncology : official journal of the American Society of Clinical Oncology 2023; (41(9)):1774-1785 doi:10.1200/JCO.22.02224.

A high prevalence of neutrophil-specific antibodies in ELANE-mutated severe congenital neutropenia.

Dobrewa W, Madzio J, Babol-Pokora K, et al.

Pediatric blood & cancer 2023; (70(4)):e30247 doi:10.1002/pbc.30247.

Family Knowledge, Attitudes, and Practices Toward Severe Congenital Neutropenia.

Karadaş N, Yilmaz Y, Önen Göktepe Ş, et al.

Journal of pediatric hematology/oncology 2023; (45(4)):e441-e445 doi:10.1097/MPH.0000000000002634.

JAGN1 mutation with distinct clinical features; two case reports and literature review.

Hojabri M, Farsi Y, Jamee M, et al.

BMC pediatrics 2023; (23(1)):206 doi:10.1186/s12887-023-04024-y.

Manifestation of severe congenital neutropenia in the oral cavity. Case report.

Krasuska-Sławińska E, Klaudel-Dreszler M, Minota M, et al.

Central-European journal of immunology 2013; (48(1)):70-74 doi:10.5114/ceji.2023.125312.

Severe congenital neutropenia due to jagunal homolog 1 (JAGN1) mutation: a case report and literature review.

Thomas S, Guenther G, Rowe JH, et al.

Frontiers in pediatrics 2023; (11()):1223191 doi:10.3389/fped.2023.1223191.

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.

A JAGN1-associated severe congenital neutropenia zebrafish model revealed an altered G-CSFR signaling and UPR activation.

Doll L, Welte K, Skokowa J, Bajoghli B

Blood advances 2024; (8(15)):4050-4065 doi:10.1182/bloodadvances.2023011656.

Oral health management in children with severe congenital neutropenia with periodontitis: Case report.

Tao SY, Yao M, Dong YL, et al.

Medicine 2024; (103(30)):e39086 doi:10.1097/MD.0000000000039086.

Protein Network Alterations in G-CSF Treated Severe Congenital Neutropenia Patients and Beneficial Effects of Oral Health Intervention.

Bao K, Silbereisen A, Grossmann J, et al.

Proteomics. Clinical applications 2024; (18(6)):e202400064 doi:10.1002/prca.202400064.

Case report: Granulocyte-macrophage colony-stimulating factor sargramostim did not rescue the neutrophil phenotype in two patients with JAGN1-mutant severe congenital neutropenia.

Farmand S, Aydin SE, Wustrau K, et al.

Frontiers in immunology 2024; (15()):1373495 doi:10.3389/fimmu.2024.1373495.

Extended clinical phenotypes and treatment modalities in 32 JAGN1-deficient patients: a multicenter study by ESID and EBMT IEWP.

Fekadu-Siebald J, Salzmann-Manrique E, Heusel JR, et al.

Blood advances 2025; (9(7)):1702-1711 doi:10.1182/bloodadvances.2024014344.

A case of JAGN1 mutation presenting with atypical diabetes and immunodeficiency.

De Cuyper C, Staels W, Daelemans S, et al.

Journal of pediatric endocrinology & metabolism : JPEM 2025; (38(11)):1217-1223 doi:10.1515/jpem-2025-0065.

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.

Severe Congenital Neutropenia in a Newborn Caused by a Novel Mutation in the ELANE Gene-First Report From North Macedonia and a Literature Review: A Case Report.

Zdraveska N, Trajkovska T, Jovanovska A, et al.

Case reports in pediatrics 2025; (2025()):6873929 doi:10.1155/crpe/6873929.

Neutropenia: Evaluation and Management in the Primary Care Setting.

Kim MJ, Forlini C, Kremsreiter K

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

Severe Congenital Neutropenia With Negative Whole-Exome Sequencing Managed With Hematopoietic Stem Cell Transplantation: A Case Report.

Albar RF, Abdulaziz AA, Merdad AH, Felemban BS

Cureus 2026; (18(1)):e102496 doi:10.7759/cureus.102496.

Phenotypic Variability Associated with Jagunal Homolog 1 (JAGN1) Deficiency Caused by the c.63G>T Variant.

Pantea CL, Bataneant M, Zimbru CG, et al.

International journal of molecular sciences 2026; (27(4)) doi:10.3390/ijms27041735.

Evaluation of bone mineral density in patients with severe congenital neutropenia: experience of six centers in Turkey.

Karali Y, Ayvaz DC, Karapinar DY, et al.

Scientific reports 2026; (16(1)).

Jagunal homolog 1 safeguards neutrophil immune function by preserving protein sialylation during differentiation.

Nussbaumer K, Hübner M, da Costa R, et al.

Blood advances 2026; (10(21)):7311-7324 doi:10.1182/bloodadvances.2026019794.

Clinical outcome and infectious complications in genetic and suspected genetic neutropenia: A report from the Canadian Inherited Marrow Failure Registry.

Choi YB, Alshammari NRR, Mathew R, et al.

British journal of haematology 2026; doi:10.1111/bjh.70823.