Autosomal recessive severe congenital neutropenia due to CXCR2 deficiency

MedGen UID:: 1682018
•Concept ID:: C5190862
•: Disease or Syndrome

Synonyms:	Autosomal recessive severe congenital neutropenia due to C-X-C motif chemokine receptor 2 deficiency; Autosomal recessive severe congenital neutropenia due to CXCR2 (C-X-C motif chemokine receptor 2) deficiency; autosomal recessive severe congenital neutropenia due to CXCR2 deficiency
SNOMED CT:	Autosomal recessive severe congenital neutropenia due to C-X-C motif chemokine receptor 2 deficiency (783200000); Autosomal recessive severe congenital neutropenia due to CXCR2 deficiency (783200000); Autosomal recessive severe congenital neutropenia due to CXCR2 (C-X-C motif chemokine receptor 2) deficiency (783200000)
Modes of inheritance:	Autosomal recessive inheritance MedGen UID: 141025 •Concept ID: C0441748 • 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 individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). Autosomal recessive inheritance (Orphanet)

Monarch Initiative:	MONDO:0018487
Orphanet:	ORPHA420699

Definition

A rare genetic primary immunodeficiency disorder with characteristics of recurrent bacterial infections (including septic thrombophlebitis and subacute bacterial endocarditis) and neutropenia without lymphopenia or warts, resulting from recessively inherited mutations in CXCR2. [from SNOMEDCT_US]

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GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVAutosomal recessive severe congenital neutropenia due to CXCR2 deficiency

Hematologic disorder
- Non-Neoplastic Hematologic and Lymphocytic Disorder
  - Congenital hematological disorder
    - Congenital neutropenia
      - Severe congenital neutropenia
        Autosomal recessive severe congenital neutropenia
        Autosomal recessive severe congenital neutropenia due to CXCR2 deficiency

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Autosomal recessive severe congenital neutropenia due to CXCR2 deficiency

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