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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]

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVCongenital neutropenia

Disease
- Disorder by Site
  - Hematopoietic and Lymphatic System Disorder
    - Hematologic disorder
      - Non-Neoplastic Hematopoietic and Lymphoid Cell Disorder
        Congenital hematological disorder
        Congenital neutropenia
        Severe congenital neutropenia
        Autosomal dominant severe congenital neutropenia
        Neutropenia, severe congenital, 1, autosomal dominant
        Neutropenia, severe congenital, 2, autosomal dominant
        Autosomal recessive severe congenital neutropenia
        Autosomal recessive severe congenital neutropenia due to CSF3R deficiency
        Autosomal recessive severe congenital neutropenia due to CXCR2 deficiency
        Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
        Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency
        Congenital neutropenia-myelofibrosis-nephromegaly syndrome
        Kostmann syndrome
        X-linked severe congenital neutropenia

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: 34854832 Free 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

Evaluation and management of patients with isolated neutropenia.

Newburger PE, Dale DC
Semin Hematol 2013 Jul;50(3):198-206. doi: 10.1053/j.seminhematol.2013.06.010. PMID: 23953336 Free PMC Article

See all (34)

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: 31203998 Free 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: 28593997 Free 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: 25397911 Free 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

See all (187)

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: 31313072 Free 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: 28593997 Free 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

See all (207)

Therapy

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: 28593997 Free 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

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

Congenital neutropenia.

Christensen RD, Calhoun DA
Clin Perinatol 2004 Mar;31(1):29-38. doi: 10.1016/j.clp.2004.03.011. PMID: 15183654

See all (181)

Prognosis

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: 28593997 Free PMC Article

Epidemiology of congenital neutropenia.

Donadieu J, Beaupain B, Mahlaoui N, Bellanné-Chantelot C
Hematol Oncol Clin North Am 2013 Feb;27(1):1-17, vii. doi: 10.1016/j.hoc.2012.11.003. PMID: 23351985

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

See all (116)

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

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

The diversity of mutations and clinical outcomes for ELANE-associated neutropenia.

Makaryan V, Zeidler C, Bolyard AA, Skokowa J, Rodger E, Kelley ML, Boxer LA, Bonilla MA, Newburger PE, Shimamura A, Zhu B, Rosenberg PS, Link DC, Welte K, Dale DC
Curr Opin Hematol 2015 Jan;22(1):3-11. doi: 10.1097/MOH.0000000000000105. PMID: 25427142 Free PMC Article

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

See all (123)

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: 38840904 Free 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

See all (4)

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Congenital neutropenia

Definition

Term Hierarchy

Professional guidelines

PubMed

Recent clinical studies

Etiology

Diagnosis

Therapy

Prognosis

Clinical prediction guides

Recent systematic reviews

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Practice guidelines

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