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Neutrophil immunodeficiency syndrome
1 OMIM reference -
1 associated gene
17 connected diseases
2 signs/symptoms
Disease Type of connection
Chronic granulomatous disease
Familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis
Baraitser-Winter syndrome
Developmental malformations - deafness - dystonia
X-linked non-syndromic intellectual deficit
Common variable immunodeficiency
Early-onset spastic ataxia-neuropathy syndrome
Spinocerebellar ataxia type 28
Wiskott-Aldrich syndrome
X-linked severe congenital neutropenia
X-linked thrombocytopenia with normal platelets
Familial pancreatic carcinoma
Generalized juvenile polyposis / juvenile polyposis coli
Hereditary hemorrhagic telangiectasia
Myhre syndrome
X-linked mendelian susceptibility to mycobacterial diseases due to CYBB deficiency
X-linked lymphoproliferative disease
Synonym(s):
(no synonyms)
Classification (Orphanet):
- Rare genetic disease
- Rare immune disease
Classification (ICD10):
- Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism -
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: before age 5
Type of inheritance: unknown
External references:
1 OMIM reference -
No MeSH references
Gene symbol UniProt reference OMIM reference
RAC2 P15153602049
Very frequent
- Immunodeficiency / increased susceptibility to infections / recurrent infections
- Polynuclear cells / neutrophils anomalies / neutropenia