X-linked severe congenital neutropenia

General Information (adopted from Orphanet):

Synonyms, Signs: XLN
SCNX
Number of Symptoms 14
OrphanetNr: 86788
OMIM Id: 300299
ICD-10: D70
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 45 cases [Orphanet]
Inheritance: X-linked recessive
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Severe congenital neutropenia
 -Rare genetic disease
 -Rare immune disease

Symptom Information: Sort by abundance 

1
(HPO:0000951) Abnormality of the skin 147 / 7739
2
(HPO:0010701) Abnormal immunoglobulin level Very frequent [Orphanet] 49 / 7739
3
(HPO:0005549) Congenital neutropenia 6 / 7739
4
(HPO:0001874) Abnormality of neutrophils Very frequent [Orphanet] 47 / 7739
5
(HPO:0002718) Recurrent bacterial infections 75 / 7739
6
(MedDRA:10055070) Mean platelet volume normal 1 / 7739
7
(OMIM) Increased activated CD8+ T cells 1 / 7739
8
(HPO:0001419) X-linked recessive inheritance 189 / 7739
9
(OMIM) Low-normal IgA levels 1 / 7739
10
(OMIM) No eczema 1 / 7739
11
(OMIM) Decreased CD3(-)CD16/15(+) natural killer cells 1 / 7739
12
(OMIM) Severe congenital neutropenia 1 / 7739
13
(OMIM) Low to low-normal platelet count 2 / 7739
14
(OMIM) Decreased CD4+/CD8+ ratio 2 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM In a 3-generation family of European descent, Devriendt et al. (2001) described 5 males who presented with a novel X-linked immunodeficiency syndrome characterized by recurrent major bacterial infections, severe congenital neutropenia, and monocytopenia. Although X-linked inheritance and shifts ...
Molecular genetics OMIM Mutation analysis of the WAS gene by Devriendt et al. (2001) revealed a missense mutation (L270P; 300392.0012) in all affected males and carrier females. Preferential inactivation of the X chromosome carrying the mutated WAS gene was found in ...