Neutrophil immunodeficiency syndrome

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 3
OrphanetNr: 183707
OMIM Id: 608203
ICD-10: D71
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Unknown
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Functional neutrophil defect
 -Rare genetic disease
 -Rare immune disease

Symptom Information: Sort by abundance 

1
(HPO:0001874) Abnormality of neutrophils Very frequent [Orphanet] 47 / 7739
2
(HPO:0010978) Abnormality of immune system physiology Very frequent [Orphanet] 148 / 7739
3
(HPO:0002721) Immunodeficiency 97 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Ambruso et al. (2000) reported a male infant of nonconsanguineous parents who presented with severe bacterial infections and poor wound healing, suggesting a neutrophil defect. The infant presented at 5 weeks of age with a perirectal abscess and ...
Molecular genetics OMIM In an infant with recurrent infections, Ambruso et al. (2000) identified a missense mutation in the RAC2 gene (602049.0001) involving an amino acid that is invariant in all defined GTP-binding proteins.