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Chronic neutropenia

MedGen UID:
1671095
Concept ID:
C0746882
Disease or Syndrome
HPO: HP:0410252

Definition

Neutropenia with an absolute neutrophil count (ANC) less than 1,500,000,000/L lasting for more than 3 months. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVChronic neutropenia

Conditions with this feature

Onychotrichodysplasia and neutropenia
MedGen UID:
340512
Concept ID:
C1850316
Disease or Syndrome
Combined immunodeficiency due to LRBA deficiency
MedGen UID:
766426
Concept ID:
C3553512
Disease or Syndrome
Common variable immunodeficiency-8 with autoimmunity is an autosomal recessive disorder of immune dysregulation. Affected individuals have early childhood onset of recurrent infections, particularly respiratory infections, and also develop variable autoimmune disorders, including idiopathic thrombocytopenic purpura, autoimmune hemolytic anemia, and inflammatory bowel disease. The presentation and phenotype are highly variable, even within families (summary by Lopez-Herrera et al., 2012 and Alangari et al., 2012). Immunologic findings are also variable and may include decreased B cells, hypogammaglobulinemia, and deficiency of CD4+ T regulatory (Treg) cells (Charbonnier et al., 2015). For a general description and a discussion of genetic heterogeneity of common variable immunodeficiency, see CVID1 (607594).
Pontocerebellar hypoplasia, type 14
MedGen UID:
1778516
Concept ID:
C5543322
Disease or Syndrome
Pontocerebellar hypoplasia type 14 (PCH14) is a severe autosomal recessive neurodevelopmental disorder characterized by congenital onset of progressive microcephaly and poor or absent psychomotor development with severely impaired intellectual development apparent from birth. Other features may include hypotonia, spastic quadriplegia, and early-onset seizures. Brain imaging shows pontocerebellar hypoplasia, agenesis or partial agenesis of the corpus callosum, and sometimes a simplified gyral pattern. Early death may occur (summary by et al., 2021). For a phenotypic description and a discussion of genetic heterogeneity of PCH, see PCH1A (607596).
Pontocerebellar hypoplasia, type 15
MedGen UID:
1781311
Concept ID:
C5543326
Disease or Syndrome
Pontocerebellar hypoplasia type 15 (PCH15) is a severe autosomal recessive neurodevelopmental disorder characterized by congenital onset of progressive microcephaly and poor or absent psychomotor development with severely impaired intellectual development apparent from birth. Other features may include spastic quadriplegia, early-onset seizures, and chronic anemia and thrombocytopenia. Brain imaging shows pontocerebellar hypoplasia and partial agenesis of the corpus callosum (summary by et al., 2021). For a phenotypic description and a discussion of genetic heterogeneity of PCH, see PCH1A (607596).
WHIM syndrome 2
MedGen UID:
1785594
Concept ID:
C5543622
Disease or Syndrome
WHIM syndrome-2 (WHIMS2) is an autosomal recessive immunologic disorder characterized by chronic neutropenia and myelokathexis, which is impaired neutrophil mobilization from the bone marrow. Affected individuals have recurrent infections, usually bacterial (summary by Auer et al., 2014). In a review of WHIMS, Heusinkveld et al. (2019) noted that there is significant phenotypic variation among patients, such that some individuals may have an 'incomplete' form of the disorder in which 1 or more of the classic tetrad features are not present. In general, the WHIMS phenotype comprises a spectrum of manifestations with variable expressivity. For a discussion of genetic heterogeneity of WHIMS, see 193670.

Professional guidelines

PubMed

Donadieu J, Frenz S, Merz L, Sicre De Fontbrune F, Rotulo GA, Beaupain B, Biosse-Duplan M, Audrain M, Croisille L, Ancliff P, Klein C, Bellanné-Chantelot C
Expert Rev Hematol 2021 Oct;14(10):945-960. Epub 2021 Oct 8 doi: 10.1080/17474086.2021.1976634. PMID: 34486458
Moignet A, Lamy T
Am Soc Clin Oncol Educ Book 2018 May 23;38:616-625. doi: 10.1200/EDBK_200689. PMID: 30231346
Dale DC, Bolyard AA
Curr Opin Hematol 2017 Jan;24(1):46-53. doi: 10.1097/MOH.0000000000000305. PMID: 27841775Free PMC Article

Recent clinical studies

Therapy

Dale DC, Bolyard AA, Makaryan V
Expert Rev Hematol 2023 Jul-Dec;16(12):1025-1033. Epub 2023 Dec 18 doi: 10.1080/17474086.2023.2285987. PMID: 37978893
Dale DC, Bolyard AA
Curr Opin Hematol 2017 Jan;24(1):46-53. doi: 10.1097/MOH.0000000000000305. PMID: 27841775Free PMC Article
Welte K, Zeidler C, Dale DC
Semin Hematol 2006 Jul;43(3):189-95. doi: 10.1053/j.seminhematol.2006.04.004. PMID: 16822461
Dale DC, Bolyard AA, Aprikyan A
Semin Hematol 2002 Apr;39(2):89-94. doi: 10.1053/shem.2002.31917. PMID: 11957190
Dale DC, Guerry D 4th, Wewerka JR, Bull JM, Chusid MJ
Medicine (Baltimore) 1979 Mar;58(2):128-44. doi: 10.1097/00005792-197903000-00002. PMID: 431399

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
Palmblad J, Höglund P
Pediatr Blood Cancer 2018 Dec;65(12):e27361. Epub 2018 Aug 16 doi: 10.1002/pbc.27361. PMID: 30117263
Palmblad J, Nilsson CC, Höglund P, Papadaki HA
Expert Rev Hematol 2016 May;9(5):479-87. Epub 2016 Feb 16 doi: 10.1586/17474086.2016.1142867. PMID: 26778239
Welte K, Zeidler C, Dale DC
Semin Hematol 2006 Jul;43(3):189-95. doi: 10.1053/j.seminhematol.2006.04.004. PMID: 16822461
Zeidler C, Schwinzer B, Welte K
Rev Clin Exp Hematol 2003 Mar;7(1):72-83. PMID: 14692235

Clinical prediction guides

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
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
Palmblad J, Höglund P
Pediatr Blood Cancer 2018 Dec;65(12):e27361. Epub 2018 Aug 16 doi: 10.1002/pbc.27361. PMID: 30117263
Dale DC, Bolyard AA
Curr Opin Hematol 2017 Jan;24(1):46-53. doi: 10.1097/MOH.0000000000000305. PMID: 27841775Free PMC Article
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

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