Bousfiha A, Moundir A, Tangye SG, Picard C, Jeddane L, Al-Herz W, et al. The 2022 update of IUIS phenotypical classification for human inborn errors of immunity. J Clin Immunol. 2022;42:1508–20.
Donadieu J, Beaupain B, Mahlaoui N, Bellanné-Chantelot C. Epidemiology of congenital neutropenia. Hematol Oncol Clin North Am. 2013;27(1–17):vii.
Donadieu J, Beaupain B, Fenneteau O, Bellanné-Chantelot C. Congenital neutropenia in the era of genomics: classification, diagnosis, and natural history. Br J Haematol. 2017;179:557–74.
Dale DC, Makaryan V. ELANE-Related Neutropenia. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJ, Mirzaa G, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993 [cited 2021 Feb 1]. Available from: http://www.ncbi.nlm.nih.gov/books/NBK1533/.
Skokowa J, Dale DC, Touw IP, Zeidler C, Welte K. Severe congenital neutropenias. Nat Rev Dis Primer [Internet]. 2017;3. https://doi.org/10.1038/nrdp.2017.32.
Klein C. Chapter 35 - Congenital neutropenia. In: Sullivan KE, Stiehm ER, editors. Stiehms Immune Defic. 2nd ed. Academic Press; 2020. p. 797–812.
Jeong D, Kim S-M, Min BJ, Kim JH, Ju YS, Ahn Y-O, et al. Heterogeneous genetic landscape of congenital neutropenia in Korean patients revealed by whole exome sequencing: genetic, phenotypic and histologic correlations. Sci Rep. 2022;12:7515.
Article CAS PubMed PubMed Central Google Scholar
Moundir A, Ouair H, Benhsaien I, Jeddane L, Rada N, Amenzoui N, et al. Genetic Diagnosis of inborn errors of immunity in an emerging country: a retrospective study of 216 Moroccan patients. J Clin Immunol. 2023;43:485–94.
Article CAS PubMed Google Scholar
Aglaguel A, Abdelghaffar H, Ailal F, Habti N, Hesse S, Kohistani N, et al. Poikiloderma with neutropenia in Morocco: a report of four cases. J Clin Immunol. 2017;37:357–62.
Aglaguel A, Petit F, El Hafidi N, Essouiba A, Habti N, Bousfiha AA, et al. First 3 cases of glycogen storage disease type 1b diagnosed in Morocco: genetic and clinical features. Int J Innov Appl Stud. 2016;15:406–11.
Bellanné-Chantelot C, Schmaltz-Panneau B, Marty C, Fenneteau O, Callebaut I, Clauin S, et al. Mutations in the SRP54 gene cause severe congenital neutropenia as well as Shwachman-Diamond-like syndrome. Blood. 2018;132:1318–31.
Article PubMed PubMed Central Google Scholar
GaniouTidjani K, Ailal F, Najib J, Bellanné-Chantelot C, Donadieu J, Bousfiha AA. Intermittent chronic neutropenia in a patient with familial Mediterranean fever. Pediatr Blood Cancer. 2008;51:701–3.
Angelino G, Caruso R, D’Argenio P, Calò Carducci FI, Pascone R, Lanciotti M, et al. Etiology, clinical outcome, and laboratory features in children with neutropenia: analysis of 104 cases. Pediatr Allergy Immunol. 2014;25:283–9.
Bousfiha AA, Jeddane L, El Hafidi N, Benajiba N, Rada N, El Bakkouri J, et al. First report on the Moroccan registry of primary immunodeficiencies: 15 years of experience (1998–2012). J Clin Immunol. 2014;34:459–68.
Mellouli F, Mustapha IB, Khaled MB, Besbes H, Ouederni M, Mekki N, et al. Report of the Tunisian registry of primary immunodeficiencies: 25-years of experience (1988–2012). J Clin Immunol. 2015;35:745–53.
Yagoubi A, Tahiat A, Touri NS, Ladj MS, Drali O, Belaid B, et al. Algerian registry for inborn errors of immunity in children: report of 887 children (1985–2021). J Clin Immunol. 2022;42:1660–71.
Moodley S, Goddard E, Levin M, Scott C, Van EA, Davidson A, et al. A retrospective description of primary immunodeficiency diseases at Red Cross War Memorial Children’s Hospital, Cape Town, South Africa, 1975–2017. S Afr Med J. 2020;110:197–203.
Article CAS PubMed Google Scholar
Aghamohammadi A, Mohammadinejad P, Abolhassani H, Mirminachi B, Movahedi M, Gharagozlou M, et al. Primary immunodeficiency disorders in Iran: update and new insights from the third report of the national registry. J Clin Immunol. 2014;34:478–90.
Article CAS PubMed Google Scholar
Al-Saud B, Al-Mousa H, Al Gazlan S, Al-Ghonaium A, Arnaout R, Al-Seraihy A, et al. Primary immunodeficiency diseases in Saudi Arabia: a tertiary care hospital experience over a period of three years (2010–2013). J Clin Immunol. 2015;35:651–60.
Denic S, Narchi H, Al Mekaini LA, Al-Hammadi S, Al Jabri ON, Souid A-K. Prevalence of neutropenia in children by nationality. BMC Hematol [Internet]. 2016 [cited 2021 Mar 4];16. Available from: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4875641/.
Barbouche M-R, Galal N, Ben-Mustapha I, Jeddane L, Mellouli F, Ailal F, et al. Primary immunodeficiencies in highly consanguineous North African populations. Ann N Y Acad Sci. 2011;1238:42–52.
Bousfiha AA, Errami A, Jeddane L, Mellouli F, Reda SM, Adeli M, et al. Primary immunodeficiencies: epidemiology in the Maghreb. Tunis Med. 2018;96:672–7.
Bejjani N, Beaupain B, Bertrand Y, Bellanne-Chantelot C, Donadieu J. 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. Pediatr Blood Cancer. 2017;64. https://doi.org/10.1002/pbc.26722.
Makaryan V, Zeidler C, Bolyard AA, Skokowa J, Rodger E, Kelley ML, et al. The diversity of mutations and clinical outcomes for ELANE-associated neutropenia. Curr Opin Hematol. 2015;22:3–11.
Article CAS PubMed PubMed Central Google Scholar
Rezaei N, Moin M, Pourpak Z, Ramyar A, Izadyar M, Chavoshzadeh Z, et al. The clinical, immunohematological, and molecular study of Iranian patients with severe congenital neutropenia. J Clin Immunol. 2007;27:525–33.
Wan C, Yu H-H, Lu M-Y, Lee J-H, Wang L-C, Lin Y-T, et al. Clinical manifestations and outcomes of pediatric chronic neutropenia. J Formos Med Assoc Taiwan Yi Zhi. 2012;111:220–7.
Abstracts of the 15th Biennial Meeting of the European Society for Immunodeficiency. October 3–6, 2012. Florence, Italy. J Clin Immunol. 2012;32 Suppl 1:S2–407. https://doi.org/10.1007/s10875-012-9756-2.
Rotulo GA, Plat G, Beaupain B, Blanche S, Moshous D, Sicre de Fontbrune F, et al. Recurrent bacterial infections, but not fungal infections, characterise patients with ELANE-related neutropenia: a French Severe Chronic Neutropenia Registry study. Br J Haematol. 2021;194:908–20.
Article CAS PubMed Google Scholar
Welte K, Zeidler C, Dale DC. Severe congenital neutropenia. Semin Hematol. 2006;43:189–95.
Article CAS PubMed Google Scholar
Ailal F, Fellahi Z, Kili A, Aglaguel A, Najib J, Bousfiha A. Conduite à tenir devant une neutropénie de l’enfant. Rev Marocaine Mal Enfant. 2012;95–9.
Fioredda F, Calvillo M, Burlando O, Riccardi F, Caviglia I, Tucci F, et al. Infectious complications in children with severe congenital, autoimmune or idiopathic neutropenia: a retrospective study from the Italian Neutropenia Registry. Pediatr Infect Dis J. 2013;32:410–2.
Donadieu J, Bellann’e-Chantelot C. Genetics of severe congenital neutropenia as a gateway to personalized therapy. Hematology. 2022;2022:658–65.
Article PubMed PubMed Central Google Scholar
Gong R-L, Wu J, Chen T-X. Clinical, laboratory, and molecular characteristics and remission status in children with severe congenital and non-congenital neutropenia. Front Pediatr [Internet]. 2018;6. https://doi.org/10.3389/fped.2018.00305.
Lyimo BM, Popkin-Hall ZR, Giesbrecht DJ, Mandara CI, Madebe RA, Bakari C, et al. Potential opportunities and challenges of deploying next generation sequencing and CRISPR-Cas systems to support diagnostics and surveillance towards malaria control and elimination in Africa. Front Cell Infect Microbiol [Internet]. 2022 [cited 2023 Jul 6];12. https://www.frontiersin.org/articles/https://doi.org/10.3389/fcimb.2022.757844.
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