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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
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
Management of neutropenia in patients with rheumatoid arthritis.
Lazaro E, Morel J
Joint Bone Spine 2015 Jul;82(4):235-9. Epub 2015 Mar 26 doi: 10.1016/j.jbspin.2015.01.005. PMID: 25819216

Recent clinical studies

Etiology

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
Granulocytopenia.
Čermák J
Vnitr Lek 2018 Summer;64(5):520-525. PMID: 30193521
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
How to approach neutropenia.
Boxer LA
Hematology Am Soc Hematol Educ Program 2012;2012:174-82. doi: 10.1182/asheducation-2012.1.174. PMID: 23233578

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
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
Granulocytopenia.
Čermák J
Vnitr Lek 2018 Summer;64(5):520-525. PMID: 30193521
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

A phase III randomized crossover trial of plerixafor versus G-CSF for treatment of WHIM syndrome.
McDermott DH, Velez D, Cho E, Cowen EW, DiGiovanna JJ, Pastrana DV, Buck CB, Calvo KR, Gardner PJ, Rosenzweig SD, Stratton P, Merideth MA, Kim HJ, Brewer C, Katz JD, Kuhns DB, Malech HL, Follmann D, Fay MP, Murphy PM
J Clin Invest 2023 Oct 2;133(19) doi: 10.1172/JCI164918. PMID: 37561579Free 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
Genetic predisposition syndromes: when should they be considered in the work-up of MDS?
Babushok DV, Bessler M
Best Pract Res Clin Haematol 2015 Mar;28(1):55-68. Epub 2014 Nov 12 doi: 10.1016/j.beha.2014.11.004. PMID: 25659730Free PMC Article
Antimicrobial peptides.
Izadpanah A, Gallo RL
J Am Acad Dermatol 2005 Mar;52(3 Pt 1):381-90; quiz 391-2. doi: 10.1016/j.jaad.2004.08.026. PMID: 15761415

Prognosis

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, Gerschmann N, Ebetsberger-Dachs G, Palmblad J, Carlsson G, Masmas T, Kinsey S, Bartels M, Mellor-Heineke S, Welte K, Skokowa J, Zeidler C
Br J Haematol 2023 Jul;202(2):393-411. Epub 2023 May 16 doi: 10.1111/bjh.18840. PMID: 37193639
Selective IgM deficiency: Follow-up and outcome.
Caka C, Cimen O, Kahyaoğlu P, Tezcan İ, Cagdas D
Pediatr Allergy Immunol 2021 Aug;32(6):1327-1334. Epub 2021 Mar 29 doi: 10.1111/pai.13497. PMID: 33706406
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 neutropenias.
Zeidler C, Schwinzer B, Welte K
Rev Clin Exp Hematol 2003 Mar;7(1):72-83. PMID: 14692235

Clinical prediction guides

A phase III randomized crossover trial of plerixafor versus G-CSF for treatment of WHIM syndrome.
McDermott DH, Velez D, Cho E, Cowen EW, DiGiovanna JJ, Pastrana DV, Buck CB, Calvo KR, Gardner PJ, Rosenzweig SD, Stratton P, Merideth MA, Kim HJ, Brewer C, Katz JD, Kuhns DB, Malech HL, Follmann D, Fay MP, Murphy PM
J Clin Invest 2023 Oct 2;133(19) doi: 10.1172/JCI164918. PMID: 37561579Free PMC Article
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
Mosaicism of an ELANE Mutation in an Asymptomatic Mother.
Shigemura T, Kobayashi N, Agematsu K, Ohara O, Nakazawa Y
J Clin Immunol 2019 Jan;39(1):106-111. Epub 2019 Jan 12 doi: 10.1007/s10875-018-0580-1. PMID: 30635825
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
Risk of myelodysplastic syndrome and acute myeloid leukemia in congenital neutropenias.
Freedman MH, Alter BP
Semin Hematol 2002 Apr;39(2):128-33. doi: 10.1053/shem.2002.31912. PMID: 11957196

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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