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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

Touw IP
Curr Opin Hematol 2022 Jan 1;29(1):27-33. doi: 10.1097/MOH.0000000000000696. PMID: 34854832Free PMC Article
Deordieva E, Shvets O, Voronin K, Maschan A, Welte K, Skokowa J, Novichkova G, Shcherbina A
Br J Haematol 2021 Feb;192(4):788-792. Epub 2021 Jan 20 doi: 10.1111/bjh.17313. PMID: 33471934
Koch C, Samareh B, Morishima T, Mir P, Kanz L, Zeidler C, Skokowa J, Welte K
Ann Hematol 2017 Mar;96(3):345-353. Epub 2016 Dec 14 doi: 10.1007/s00277-016-2894-5. PMID: 27966038

Recent clinical studies

Etiology

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
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
Dale DC
Br J Haematol 2017 Aug;178(3):351-363. Epub 2017 Apr 17 doi: 10.1111/bjh.14677. PMID: 28419427
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
Welte K, Zeidler C
Hematol Oncol Clin North Am 2009 Apr;23(2):307-20. doi: 10.1016/j.hoc.2009.01.013. PMID: 19327585

Diagnosis

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
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
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
Dale DC
Br J Haematol 2017 Aug;178(3):351-363. Epub 2017 Apr 17 doi: 10.1111/bjh.14677. PMID: 28419427
Makaryan V, Rosenthal EA, Bolyard AA, Kelley ML, Below JE, Bamshad MJ, Bofferding KM, Smith JD, Buckingham K, Boxer LA, Skokowa J, Welte K, Nickerson DA, Jarvik GP, Dale DC; UW Center for Mendelian Genomics
Hum Mutat 2014 Jul;35(7):824-7. Epub 2014 May 21 doi: 10.1002/humu.22563. PMID: 24753205Free PMC Article

Therapy

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
Dale DC
Br J Haematol 2017 Aug;178(3):351-363. Epub 2017 Apr 17 doi: 10.1111/bjh.14677. PMID: 28419427
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
Klein C
Hematology Am Soc Hematol Educ Program 2009:344-50. doi: 10.1182/asheducation-2009.1.344. PMID: 20008220
Townshend J, Clark J, Cant A, Carey P, Kumar P, Campbell D
Arch Dis Child Educ Pract Ed 2008 Feb;93(1):14-8. doi: 10.1136/adc.2006.109264. PMID: 18208980

Prognosis

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
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
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
Welte K, Zeidler C, Dale DC
Semin Hematol 2006 Jul;43(3):189-95. doi: 10.1053/j.seminhematol.2006.04.004. PMID: 16822461
Horwitz M, Benson KF, Duan Z, Li FQ, Person RE
Trends Mol Med 2004 Apr;10(4):163-70. doi: 10.1016/j.molmed.2004.02.002. PMID: 15059607

Clinical prediction guides

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
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
Hiwarkar P, Bargir U, Pandrowala A, Bodhanwala M, Thakker N, Taur P, Madkaikar M, Desai M
J Clin Immunol 2022 Nov;42(8):1653-1659. Epub 2022 Jul 15 doi: 10.1007/s10875-022-01323-4. PMID: 35838821
Dale DC
Br J Haematol 2017 Aug;178(3):351-363. Epub 2017 Apr 17 doi: 10.1111/bjh.14677. PMID: 28419427
Horwitz M, Benson KF, Duan Z, Li FQ, Person RE
Trends Mol Med 2004 Apr;10(4):163-70. doi: 10.1016/j.molmed.2004.02.002. PMID: 15059607

Recent systematic reviews

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
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
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
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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