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Congenital neutropenia

MedGen UID:
83317
•Concept ID:
C0340970
•
Congenital Abnormality
Synonyms: Autosomal dominant or sporadic congenital neutropenia; Congenital Agranulocytosis; Congenital Neutropenia; Severe congenital neutropenia
SNOMED CT: Congenital neutropenia (89655007); Primary neutropenia (89655007)

Definition

A rare congenital disorder characterized by mild or severe reduction of neutrophils in the peripheral blood and recurrent infantile infections. [from NCI]

Professional guidelines

PubMed

Congenital neutropenia: disease models guiding new treatment strategies.
Touw IP
Curr Opin Hematol 2022 Jan 1;29(1):27-33. doi: 10.1097/MOH.0000000000000696. PMID: 34854832Free PMC Article
Chronic neutropenia: how best to assess severity and approach management?
Donadieu J, Frenz S, Merz L, Sicre De Fontbrune F, Rotulo GA, Beaupain B, Biosse-Duplan M, Audrain M, Croisille L, Ancliff P, Klein C, Bellanné-Chantelot C
Expert Rev Hematol 2021 Oct;14(10):945-960. Epub 2021 Oct 8 doi: 10.1080/17474086.2021.1976634. PMID: 34486458
Modern management of phagocyte defects.
Lanini LL, Prader S, Siler U, Reichenbach J
Pediatr Allergy Immunol 2017 Mar;28(2):124-134. Epub 2016 Oct 13 doi: 10.1111/pai.12654. PMID: 27612320

Recent clinical studies

Etiology

Dapagliflozin and Empagliflozin in Paediatric Indications: A Systematic Review.
Lava SAG, Laurence C, Di Deo A, Sekarski N, Burch M, Della Pasqua O
Paediatr Drugs 2024 May;26(3):229-243. Epub 2024 Apr 18 doi: 10.1007/s40272-024-00623-z. PMID: 38635113
Hereditary myeloid malignancies.
Rafei H, DiNardo CD
Best Pract Res Clin Haematol 2019 Jun;32(2):163-176. Epub 2019 May 3 doi: 10.1016/j.beha.2019.05.001. PMID: 31203998Free PMC Article
Severe congenital neutropenias.
Skokowa J, Dale DC, Touw IP, Zeidler C, Welte K
Nat Rev Dis Primers 2017 Jun 8;3:17032. doi: 10.1038/nrdp.2017.32. PMID: 28593997Free PMC Article
How I manage children with neutropenia.
Dale DC
Br J Haematol 2017 Aug;178(3):351-363. Epub 2017 Apr 17 doi: 10.1111/bjh.14677. PMID: 28419427
GATA2 deficiency.
Hsu AP, McReynolds LJ, Holland SM
Curr Opin Allergy Clin Immunol 2015 Feb;15(1):104-9. doi: 10.1097/ACI.0000000000000126. PMID: 25397911Free PMC Article

Diagnosis

WHIM Syndrome: from Pathogenesis Towards Personalized Medicine and Cure.
Heusinkveld LE, Majumdar S, Gao JL, McDermott DH, Murphy PM
J Clin Immunol 2019 Aug;39(6):532-556. Epub 2019 Jul 16 doi: 10.1007/s10875-019-00665-w. PMID: 31313072Free PMC Article
Hereditary myeloid malignancies.
Rafei H, DiNardo CD
Best Pract Res Clin Haematol 2019 Jun;32(2):163-176. Epub 2019 May 3 doi: 10.1016/j.beha.2019.05.001. PMID: 31203998Free PMC Article
Congenital neutropenia and primary immunodeficiency diseases.
Spoor J, Farajifard H, Rezaei N
Crit Rev Oncol Hematol 2019 Jan;133:149-162. Epub 2018 Oct 13 doi: 10.1016/j.critrevonc.2018.10.003. PMID: 30661651
Severe congenital neutropenias.
Skokowa J, Dale DC, Touw IP, Zeidler C, Welte K
Nat Rev Dis Primers 2017 Jun 8;3:17032. doi: 10.1038/nrdp.2017.32. PMID: 28593997Free PMC Article
How I manage children with neutropenia.
Dale DC
Br J Haematol 2017 Aug;178(3):351-363. Epub 2017 Apr 17 doi: 10.1111/bjh.14677. PMID: 28419427

Therapy

Dapagliflozin and Empagliflozin in Paediatric Indications: A Systematic Review.
Lava SAG, Laurence C, Di Deo A, Sekarski N, Burch M, Della Pasqua O
Paediatr Drugs 2024 May;26(3):229-243. Epub 2024 Apr 18 doi: 10.1007/s40272-024-00623-z. PMID: 38635113
Severe congenital neutropenias.
Skokowa J, Dale DC, Touw IP, Zeidler C, Welte K
Nat Rev Dis Primers 2017 Jun 8;3:17032. doi: 10.1038/nrdp.2017.32. PMID: 28593997Free PMC Article
How I manage children with neutropenia.
Dale DC
Br J Haematol 2017 Aug;178(3):351-363. Epub 2017 Apr 17 doi: 10.1111/bjh.14677. PMID: 28419427
Congenital neutropenia.
Klein C
Hematology Am Soc Hematol Educ Program 2009:344-50. doi: 10.1182/asheducation-2009.1.344. PMID: 20008220
Congenital neutropenia.
Christensen RD, Calhoun DA
Clin Perinatol 2004 Mar;31(1):29-38. doi: 10.1016/j.clp.2004.03.011. PMID: 15183654

Prognosis

Congenital neutropenia: From lab bench to clinic bedside and back.
Dobrewa W, Bielska M, Bąbol-Pokora K, Janczar S, Młynarski W
Mutat Res Rev Mutat Res 2024 Jan-Jun;793:108476. Epub 2023 Nov 19 doi: 10.1016/j.mrrev.2023.108476. PMID: 37989463
Neutropenia and leukemia development: genetic risk factors and prognosis.
Shahrabi S, Maleknia M, Tavakolifar Y, D Zayeri Z, Saki N
Leuk Lymphoma 2019 Dec;60(14):3363-3374. Epub 2019 Jun 19 doi: 10.1080/10428194.2019.1630622. PMID: 31213100
Severe congenital neutropenias.
Skokowa J, Dale DC, Touw IP, Zeidler C, Welte K
Nat Rev Dis Primers 2017 Jun 8;3:17032. doi: 10.1038/nrdp.2017.32. PMID: 28593997Free PMC Article
Congenital neutropenia syndromes.
Boztug K, Welte K, Zeidler C, Klein C
Immunol Allergy Clin North Am 2008 May;28(2):259-75, vii-viii. doi: 10.1016/j.iac.2008.01.007. PMID: 18424332
Severe congenital neutropenia.
Welte K, Zeidler C, Dale DC
Semin Hematol 2006 Jul;43(3):189-95. doi: 10.1053/j.seminhematol.2006.04.004. PMID: 16822461

Clinical prediction guides

Dapagliflozin and Empagliflozin in Paediatric Indications: A Systematic Review.
Lava SAG, Laurence C, Di Deo A, Sekarski N, Burch M, Della Pasqua O
Paediatr Drugs 2024 May;26(3):229-243. Epub 2024 Apr 18 doi: 10.1007/s40272-024-00623-z. PMID: 38635113
Congenital neutropenia: From lab bench to clinic bedside and back.
Dobrewa W, Bielska M, Bąbol-Pokora K, Janczar S, Młynarski W
Mutat Res Rev Mutat Res 2024 Jan-Jun;793:108476. Epub 2023 Nov 19 doi: 10.1016/j.mrrev.2023.108476. PMID: 37989463
Hereditary Predisposition to Hematopoietic Neoplasms: When Bloodline Matters for Blood Cancers.
Mangaonkar AA, Patnaik MM
Mayo Clin Proc 2020 Jul;95(7):1482-1498. Epub 2020 Jun 19 doi: 10.1016/j.mayocp.2019.12.013. PMID: 32571604
How I manage children with neutropenia.
Dale DC
Br J Haematol 2017 Aug;178(3):351-363. Epub 2017 Apr 17 doi: 10.1111/bjh.14677. PMID: 28419427
Congenital and acquired neutropenia.
Berliner N, Horwitz M, Loughran TP Jr
Hematology Am Soc Hematol Educ Program 2004:63-79. doi: 10.1182/asheducation-2004.1.63. PMID: 15561677

Recent systematic reviews

Clinical relevance of SCN and CyN induced by ELANE mutations: a systematic review.
Xiao Y, Wang N, Jin X, Liu A, Zhang Z
Front Immunol 2024;15:1349919. Epub 2024 May 22 doi: 10.3389/fimmu.2024.1349919. PMID: 38840904Free PMC Article
Dapagliflozin and Empagliflozin in Paediatric Indications: A Systematic Review.
Lava SAG, Laurence C, Di Deo A, Sekarski N, Burch M, Della Pasqua O
Paediatr Drugs 2024 May;26(3):229-243. Epub 2024 Apr 18 doi: 10.1007/s40272-024-00623-z. PMID: 38635113
"Oral Manifestations of Patients with Inherited Defect in Phagocyte Number or Function" a systematic review.
Ziaei H, Tonkaboni A, Shamshiri A, Rezaei N
Clin Immunol 2021 Aug;229:108796. Epub 2021 Jul 14 doi: 10.1016/j.clim.2021.108796. PMID: 34271191
Periodontal status of children with primary immunodeficiencies: a systematic review.
Halai H, Somani C, Donos N, Nibali L
Clin Oral Investig 2020 Jun;24(6):1939-1951. Epub 2019 Oct 18 doi: 10.1007/s00784-019-03055-z. PMID: 31628543

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