Research & Literature

Signal-sequence induced conformational changes in the signal recognition particle.

Hainzl T, Sauer-Eriksson AE

Nature communications 2015; (6()):7163 doi:10.1038/ncomms8163.

How I diagnose and treat neutropenia.

Dale DC

Current opinion in hematology 2016; (23(1)):1-4 doi:10.1097/MOH.0000000000000208.

An Evidence-Based Approach to Minimizing Acute Procedural Pain in the Emergency Department and Beyond.

Ali S, McGrath T, Drendel AL

Pediatric emergency care 2016; (32(1)):36-42; quiz 43-4 doi:10.1097/PEC.0000000000000669.

Impact of a Child Life and Music Therapy Procedural Support Intervention on Parental Perception of Their Child's Distress During Intravenous Placement.

Ortiz GS, OʼConnor T, Carey J, et al.

Pediatric emergency care 2019; (35(7)):498-505 doi:10.1097/PEC.0000000000001065.

Severe congenital neutropenias.

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

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

Congenital neutropenia in the era of genomics: classification, diagnosis, and natural history.

Donadieu J, Beaupain B, Fenneteau O, Bellanné-Chantelot C

British journal of haematology 2017; (179(4)):557-574 doi:10.1111/bjh.14887.

Mutations in signal recognition particle SRP54 cause syndromic neutropenia with Shwachman-Diamond-like features.

Carapito R, Konantz M, Paillard C, et al.

The Journal of clinical investigation 2017; (127(11)):4090-4103.

Structure of a prehandover mammalian ribosomal SRP·SRP receptor targeting complex.

Kobayashi K, Jomaa A, Lee JH, et al.

Science (New York, N.Y.) 2018; (360(6386)):323-327 doi:10.1126/science.aar7924.

Practical Guide to Bone Marrow Sampling for Suspected Myelodysplastic Syndromes.

Ridgeway JA, Tinsley S, Kurtin SE

Journal of the advanced practitioner in oncology 2017; (8(1)):29-39.

Mutations in the SRP54 gene cause severe congenital neutropenia as well as Shwachman-Diamond-like syndrome.

Bellanné-Chantelot C, Schmaltz-Panneau B, Marty C, et al.

Blood 2018; (132(12)):1318-1331 doi:10.1182/blood-2017-12-820308.

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.

Improving pediatric experience of pain during vaccinations: a quality improvement project.

MacDougall T, Cunningham S, Whitney L, Sawhney M

International journal of health care quality assurance 2019; (32(6)):1034-1040 doi:10.1108/IJHCQA-07-2018-0185.

Evidence-Based Recommendations for the Appropriate Level of Sedation to Manage Pain in Pediatric Oncology Patients Requiring Procedures: A Systematic Review From the Children's Oncology Group.

Duffy EA, Adams T, Thornton CP, et al.

Journal of pediatric oncology nursing : official journal of the Association of Pediatric Oncology Nurses 2020; (37(1)):6-20 doi:10.1177/1043454219858610.

Structure, dynamics and interactions of large SRP variants.

Wild K, Becker MMM, Kempf G, Sinning I

Biological chemistry 2019; (401(1)):63-80 doi:10.1515/hsz-2019-0282.

Management of Exocrine Pancreatic Insufficiency in Children.

Sankararaman S, Schindler T, Sferra TJ

Nutrition in clinical practice : official publication of the American Society for Parenteral and Enteral Nutrition 2019; (34 Suppl 1()):S27-S42 doi:10.1002/ncp.10388.

Pancreatic Enzyme Replacement Therapy: A Concise Review.

Brennan GT, Saif MW

JOP : Journal of the pancreas 2019; (20(5)):121-125.

Congenital neutropenia with variable clinical presentation in novel mutation of the SRP54 gene.

Goldberg L, Simon AJ, Rechavi G, et al.

Pediatric blood & cancer 2020; (67(6)):e28237 doi:10.1002/pbc.28237.

Structural and Functional Impact of SRP54 Mutations Causing Severe Congenital Neutropenia.

Juaire KD, Lapouge K, Becker MMM, et al.

Structure (London, England : 1993) 2021; (29(1)):15-28.e7 doi:10.1016/j.str.2020.09.008.

A Next-Generation Sequencing Test for Severe Congenital Neutropenia: Utility in a Broader Clinicopathologic Spectrum of Disease.

McNulty SN, Evenson MJ, Riley M, et al.

The Journal of molecular diagnostics : JMD 2021; (23(2)):200-211 doi:10.1016/j.jmoldx.2020.10.014.

SRP54 mutations induce congenital neutropenia via dominant-negative effects on XBP1 splicing.

Schürch C, Schaefer T, Müller JS, et al.

Blood 2021; (137(10)):1340-1352 doi:10.1182/blood.2020008115.

Online psychosocial group intervention for parents: Positive effects on anxiety and depression.

Douma M, Maurice-Stam H, Gorter B, et al.

Journal of pediatric psychology 2021; (46(2)):123-134 doi:10.1093/jpepsy/jsaa102.

A Novel Intronic Mutation Reduces HAX1 Level and is Associated With Severe Congenital Neutropenia.

Goktas S, Azizoglu ZB, Petersheim D, et al.

Journal of pediatric hematology/oncology 2022; (44(1)):e62-e67 doi:10.1097/MPH.0000000000002071.

Receptor compaction and GTPase rearrangement drive SRP-mediated cotranslational protein translocation into the ER.

Lee JH, Jomaa A, Chung S, et al.

Science advances 2021; (7(21)) doi:10.1126/sciadv.abg0942.

Novel G6PC3 Mutations in Patients with Congenital Neutropenia: Case Reports and Review of the Literature.

Maroufi SF, Shaka Z, Mojtabavi H, et al.

Endocrine, metabolic & immune disorders drug targets 2021; (21(9)):1660-1668 doi:10.2174/1871530321666210616110631.

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.

Severe congenital neutropenia due to G6PC3 deficiency: Case series of five patients and literature review.

Velez-Tirado N, Yamazaki-Nakashimada MA, Lopez Valentín E, et al.

Scandinavian journal of immunology 2022; (95(4)):e13136 doi:10.1111/sji.13136.

Common needs in uncommon conditions: a qualitative study to explore the need for care in pediatric patients with rare diseases.

Smits RM, Vissers E, Te Pas R, et al.

Orphanet journal of rare diseases 2022; (17(1)):153 doi:10.1186/s13023-022-02305-w.

Acute myeloid leukemia in SRP54-mutated congenital neutropenia.

Sabulski A, Grier DD, Myers KC, et al.

EJHaem 2022; (3(2)):521-525 doi:10.1002/jha2.413.

Severe congenital neutropenia mimicking chronic idiopathic neutropenia: a case report.

Kim J, Hwang S, Hwang N, et al.

Journal of Yeungnam medical science 2023; (40(3)):283-288 doi:10.12701/jyms.2022.00353.

Case Report: Association between cyclic neutropenia and SRP54 deficiency.

Erdős M, Boyarchuk O, Maródi L

Frontiers in immunology 2022; (13()):975017 doi:10.3389/fimmu.2022.975017.

Genetics of severe congenital neutropenia as a gateway to personalized therapy.

Donadieu J, Bellanné-Chantelot C

Hematology. American Society of Hematology. Education Program 2022; (2022(1)):658-665 doi:10.1182/hematology.2022000392.

The psychosocial situation of families caring for children with rare diseases during the COVID-19 pandemic: results of a cross-sectional online survey.

Rihm L, Dreier M, Rezvani F, et al.

Orphanet journal of rare diseases 2022; (17(1)):449 doi:10.1186/s13023-022-02595-0.

Severe congenital neutropenia, SRP54 pathogenicity, and a framework for surveillance.

Fan EM, Vagher J, Meznarich JA, et al.

American journal of medical genetics. Part A 2023; (191(5)):1434-1441 doi:10.1002/ajmg.a.63156.

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.

HAX1-related congenital neutropenia: Long-term observation in paediatric and adult patients enrolled in the European branch of the Severe Chronic Neutropenia International Registry (SCNIR).

Pogozhykh D, Yilmaz Karapinar D, Klimiankou M, et al.

British journal of haematology 2023; (202(2)):393-411 doi:10.1111/bjh.18840.

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.

Shwachman-Diamond syndromes: clinical, genetic, and biochemical insights from the rare variants.

Kawashima N, Oyarbide U, Cipolli M, et al.

Haematologica 2023; (108(10)):2594-2605 doi:10.3324/haematol.2023.282949.

AGA Clinical Practice Update on the Epidemiology, Evaluation, and Management of Exocrine Pancreatic Insufficiency: Expert Review.

Whitcomb DC, Buchner AM, Forsmark CE

Gastroenterology 2023; (165(5)):1292-1301 doi:10.1053/j.gastro.2023.07.007.

Exocrine Pancreatic Insufficiency in Children - Challenges in Management.

Sankararaman S, Schindler T

Pediatric health, medicine and therapeutics 2023; (14()):361-378 doi:10.2147/PHMT.S402589.

A web-based psychological support program for caregivers of children with rare chronic diseases: a randomized controlled trial.

Tutus D, Niemitz M, Plener PL, et al.

Orphanet journal of rare diseases 2024; (19(1)):27 doi:10.1186/s13023-024-03029-9.

Title not available

Kasmi Z, El Bakkouri J, Ailal F, et al.

La Tunisie medicale 2023; (101(7)):591-596.

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.

Virtual Reality Distraction for Needle-Related Pain and Distress in Children: A Multicenter Randomized Controlled Trial.

Czub M, Serrano-Ibáñez ER, Piskorz J, et al.

Cyberpsychology, behavior and social networking 2024; (27(6)):409-419 doi:10.1089/cyber.2023.0454.

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.

A large cohort from an immunology reference center and an algorithm for the follow-up of chronic neutropenia.

Caka C, Ergenoğlu DN, Sinanoğlu N, et al.

Journal of clinical immunology 2024; (45(1)):38.

Child Maltreatment and Medical Traumatic Stress-A Double-Edged Sword.

Kapel Lev-Ari R, Aloni R, Shalev A, et al.

Children (Basel, Switzerland) 2024; (12(1)) doi:10.3390/children12010017.

Which factor ımpacts medical traumatic stress for pediatric patients: Scoping review.

Çınar Özbay S, Semerci Şahin R, Akdeniz Kudubeş A, et al.

Journal of pediatric nursing 2025; (85()):412-423 doi:10.1016/j.pedn.2025.09.001.

Neutropenia: Evaluation and Management in the Primary Care Setting.

Kim MJ, Forlini C, Kremsreiter K

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

Children's psychological perceptions and responses to pain and fear during venipuncture: a qualitative study using an arts-based data collection method.

Suleman SK, Yahya N, Nilsson S, Enskär K

European journal of pediatrics 2026; (185(5)).

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)).

Review of paediatric pharmacological and non-pharmacological procedural comfort strategies.

Jandu AS, Stuart G

BMJ paediatrics open 2026; (10(1)) doi:10.1136/bmjpo-2026-004729.

GTPase cycle and ER membrane regulate cargo handover during cotranslational protein targeting.

Qian R, Gora RJ, Chung S, et al.

Science advances 2026; (12(38)):eaeh8258 doi:10.1126/sciadv.aeh8258.