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

Hauck F, Klein C. Pathogenic mechanisms and clinical implications of congenital neutropenia syndromes. Curr Opin Allergy Clin Immunol. 2013;13(6):596–606.

Article  PubMed  CAS  Google Scholar 

Spoor J, Farajifard H, Rezaei N. Congenital neutropenia and primary immunodeficiency diseases. Crit Rev Oncol Hematol. 2019;133:149–62.

Article  PubMed  Google Scholar 

Dale DC. How I manage children with neutropenia. Br J Haematol. 2017;178(3):351–63.

Article  PubMed  Google Scholar 

Husain EH, Mullah-Ali A, Al-Sharidah S, Azab AF, Adekile A. Infectious etiologies of transient neutropenia in previously healthy children. Pediatr Infect Dis J. 2012;31(6):575–7.

Article  PubMed  Google Scholar 

Walkovich K, Connelly JA. Congenital neutropenia and rare functional phagocyte disorders in children. Hematol Oncol Clin North Am. 2019;33(3):533–51.

Article  PubMed  Google Scholar 

Lazzareschi I, Rossi E, Curatola A, Capozio G, Benacquista L, Iezzi L, et al. Assessment of congenital neutropenia in children: common clinical sceneries and clues for management. Mediterr J Hematol Infect Dis. 2022;14(1):e2022008.

Article  PubMed  PubMed Central  Google Scholar 

Segel GB, Halterman JS. Neutropenia in pediatric practice. Pediatr Rev. 2008;29(1):12–23 quiz 4.

Article  PubMed  Google Scholar 

Klein C. Congenital neutropenia. Hematol Am Soc Hematol Educ Progr. 2009;2009:344–50.

Article  Google Scholar 

Rezaei N, Moazzami K, Aghamohammadi A, Klein C. Neutropenia and primary immunodeficiency diseases. Int Rev Immunol. 2009;28(5):335–66.

Article  PubMed  CAS  Google Scholar 

Banka S, Wynn R, Byers H, Arkwright PD, Newman WG. G6PC3 mutations cause non-syndromic severe congenital neutropenia. Mol Genet Metab. 2013;108(2):138–41.

Article  PubMed  CAS  Google Scholar 

Chou JY, Mansfield BC. Recombinant AAV-directed gene therapy for type I glycogen storage diseases. Expert Opin Biol Ther. 2011;11(8):1011–24.

Article  PubMed  PubMed Central  CAS  Google Scholar 

Makaryan V, Kulik W, Vaz FM, Allen C, Dror Y, Dale DC, et al. The cellular and molecular mechanisms for neutropenia in Barth syndrome. Eur J Haematol. 2012;88(3):195–209.

Article  PubMed  CAS  Google Scholar 

Myers KC, Davies SM, Shimamura A. Clinical and molecular pathophysiology of Shwachman-Diamond syndrome: an update. Hematol Oncol Clin North Am. 2013;27(1):117–28 ix.

Article  PubMed  Google Scholar 

Seifert W, Kühnisch J, Maritzen T, Lommatzsch S, Hennies HC, Bachmann S, et al. Cohen syndrome-associated protein COH1 physically and functionally interacts with the small GTPase RAB6 at the Golgi complex and directs neurite outgrowth. J Biol Chem. 2015;290(6):3349–58.

Article  PubMed  CAS  Google Scholar 

Donadieu J, Beaupain B, Mahlaoui N, Bellanné-Chantelot C. Epidemiology of congenital neutropenia. Hematol Oncol Clin North Am. 2013;27(1):1–17 vii.

Article  PubMed  Google Scholar 

Lebel A, Yacobovich J, Krasnov T, Koren A, Levin C, Kaplinsky C, et al. Genetic analysis and clinical picture of severe congenital neutropenia in Israel. Pediatr Blood Cancer. 2015;62(1):103–8.

Article  PubMed  CAS  Google Scholar 

Fadeel B, Grzybowska E. HAX-1: a multifunctional protein with emerging roles in human disease. Biochem Biophys Acta. 2009;1790(10):1139–48.

Article  PubMed  CAS  Google Scholar 

Yap SV, Koontz JM. Kontrogianni-Konstantopoulos. A HAX-1: a family of apoptotic regulators in health and disease. J Cell Physiol. 2011;226(11):2752–61.

Article  PubMed  CAS  Google Scholar 

Boztug K, Klein C. Genetic etiologies of severe congenital neutropenia. Curr Opin Pediatr. 2011;23(1):21–6.

Article  PubMed  CAS  Google Scholar 

Walter P, Ron D. The unfolded protein response: from stress pathway to homeostatic regulation. Science (New York, NY). 2011;334(6059):1081–6.

Article  CAS  Google Scholar 

Banka S, Newman WG. A clinical and molecular review of ubiquitous glucose-6-phosphatase deficiency caused by G6PC3 mutations. Orphanet J Rare Dis. 2013;8:84.

Article  PubMed  PubMed Central  Google Scholar 

Boztug K, Järvinen PM, Salzer E, Racek T, Mönch S, Garncarz W, et al. JAGN1 deficiency causes aberrant myeloid cell homeostasis and congenital neutropenia. Nat Genet. 2014;46(9):1021–7.

Article  PubMed  PubMed Central  CAS  Google Scholar 

Desplantes C, Fremond ML, Beaupain B, Harousseau JL, Buzyn A, Pellier I, et al. Clinical spectrum and long-term follow-up of 14 cases with G6PC3 mutations from the French Severe Congenital Neutropenia Registry. Orphanet J Rare Dis. 2014;9:183.

Article  PubMed  PubMed Central  Google Scholar 

Lee S, Cooley L. Jagunal is required for reorganizing the endoplasmic reticulum during Drosophila oogenesis. J Cell Biol. 2007;176(7):941–52.

Article  PubMed  PubMed Central  CAS  Google Scholar 

Skokowa J, Dale DC, Touw IP, Zeidler C, Welte K. Severe congenital neutropenias. Nat Rev Dis Primers. 2017;3:17032.

Article  PubMed  PubMed Central  Google Scholar 

Carlsson G, Fasth A, Berglöf E, Lagerstedt-Robinson K, Nordenskjöld M, Palmblad J, et al. Incidence of severe congenital neutropenia in Sweden and risk of evolution to myelodysplastic syndrome/leukaemia. Br J Haematol. 2012;158(3):363–9.

Article  PubMed  Google Scholar 

Salehi T, Fazlollahi MR, Maddah M, Nayebpour M, TabatabaeiYazdi M, Alizadeh Z, et al. Prevention and control of infections in patients with severe congenital neutropenia; a follow up study. Iran J Allergy Asthma Immunol. 2012;11(1):51–6.

PubMed  Google Scholar 

Fioredda F, Iacobelli S, van Biezen A, Gaspar B, Ancliff P, Donadieu J, et al. Stem cell transplantation in severe congenital neutropenia: an analysis from the European Society for Blood and Marrow Transplantation. Blood. 2015;126(16):1885–92 quiz 970.

Article  PubMed  CAS  Google Scholar 

Donadieu J, Beaupain B, Fenneteau O, Bellanne-Chantelot C. Congenital neutropenia in the era of genomics: classification, diagnosis, and natural history. Br J Haematol. 2017;179(4):557–74.

Article  PubMed  Google Scholar 

Dale DC, Cottle TE, Fier CJ, Bolyard AA, Bonilla MA, Boxer LA, et al. Severe chronic neutropenia: treatment and follow-up of patients in the Severe Chronic Neutropenia International Registry. Am J Hematol. 2003;72(2):82–93.

Article  PubMed  Google Scholar 

Tangye SG, Al-Herz W, Bousfiha A, Chatila T, Cunningham-Rundles C, Etzioni A, et al. Human Inborn Errors of Immunity: 2019 Update on the Classification from the International Union of Immunological Societies Expert Committee. J Clin Immunol. 2020;40(1):24–64.

Article  PubMed  PubMed Central  Google Scholar 

Willmann KL, Klaver S, Doğu F, Santos-Valente E, Garncarz W, Bilic I, et al. Biallelic loss-of-function mutation in NIK causes a primary immunodeficiency with multifaceted aberrant lymphoid immunity. Nat Commun. 2014;5:5360.

Article  PubMed  Google Scholar 

Spoor J, Farajifard H, Keshavarz-Fathi M, Rezaei N. historical cohort of severe congenital neutropenia in Iran: Clinical course, laboratory evaluation, treatment, and Survival. J Pediatr Hematol/Oncol. 2023;45:e643–9.

Article  PubMed  CAS 

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