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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 Lymphoid System Disorder
    - Hematologic disorder
      - Non-Neoplastic Hematologic and Lymphocytic 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 (33)

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

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: 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

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 (180)

Diagnosis

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: 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

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 (199)

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

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

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

See all (176)

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

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

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 (112)

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: 25427142 Free 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

See all (119)