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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
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: 23953336Free PMC Article

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
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

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
Congenital neutropenia.
Klein C
Hematology Am Soc Hematol Educ Program 2009:344-50. doi: 10.1182/asheducation-2009.1.344. PMID: 20008220

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: 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
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
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

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: 28593997Free 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
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

Clinical prediction guides

Chronic Neutropenia in Childhood: Laboratory and Clinical Features.
Nepesov S, Yaman Y, Elli M, Bayram N, Ozdilli K, Ayaz A, Anak S
Indian J Pediatr 2022 Sep;89(9):894-898. Epub 2022 Mar 10 doi: 10.1007/s12098-022-04104-4. PMID: 35267133
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: 25427142Free PMC Article
Severe congenital neutropenia: inheritance and pathophysiology.
Skokowa J, Germeshausen M, Zeidler C, Welte K
Curr Opin Hematol 2007 Jan;14(1):22-8. doi: 10.1097/00062752-200701000-00006. PMID: 17133096
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

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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