U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Hereditary neutrophilia

MedGen UID:
154252
Concept ID:
C0543669
Disease or Syndrome
Synonym: Neutrophilia, Hereditary
SNOMED CT: Hereditary neutrophilia (129639005)
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
 
Gene (location): CSF3R (1p34.3)
 
Monarch Initiative: MONDO:0008092
OMIM®: 162830
Orphanet: ORPHA279943

Definition

A rare, genetic, immune disease characterized by chronic neutrophilia, increase in the percentage of circulating CD34+ cells in peripheral blood, increase in granulocyte precursors in bone marrow and splenomegaly. Patients are predominantly asymptomatic, but may present with systemic inflammatory response syndrome with fever, dyspnea, tachycardia, pleural and pericardial effusion, or myelodysplastic syndrome. [from ORDO]

Clinical features

From HPO
Myelodysplasia
MedGen UID:
10231
Concept ID:
C0026985
Congenital Abnormality
Clonal hematopoietic stem cell disorders characterized by dysplasia (ineffective production) in one or more hematopoietic cell lineages, leading to anemia and cytopenia.
Granulocytic hyperplasia
MedGen UID:
868628
Concept ID:
C4023028
Disease or Syndrome
Splenomegaly
MedGen UID:
52469
Concept ID:
C0038002
Finding
Abnormal increased size of the spleen.
Neutrophilia
MedGen UID:
57729
Concept ID:
C0151683
Finding
Increased number of neutrophils circulating in blood.
Elevated leukocyte alkaline phosphatase
MedGen UID:
870265
Concept ID:
C4024704
Finding
Increased alkaline phosphatase measured within leukocytes.

Recent clinical studies

Diagnosis

Hong WJ, Gotlib J
Best Pract Res Clin Haematol 2014 Jun;27(2):95-106. Epub 2014 Jul 18 doi: 10.1016/j.beha.2014.07.002. PMID: 25189721
Pardanani A, Lasho TL, Laborde RR, Elliott M, Hanson CA, Knudson RA, Ketterling RP, Maxson JE, Tyner JW, Tefferi A
Leukemia 2013 Sep;27(9):1870-3. Epub 2013 Apr 22 doi: 10.1038/leu.2013.122. PMID: 23604229Free PMC Article

Supplemental Content

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...