COMBINED INFLAMMATORY AND IMMUNOLOGIC DEFECT

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 11
OrphanetNr:
OMIM Id: 216920
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
 (HPO:0001507) Growth abnormality 36 / 7739
2
 (HPO:0001875) Neutropenia 83 / 7739
3
 (HPO:0002972) Reduced delayed hypersensitivity 7 / 7739
4
 (HPO:0003261) Increased IgA level 12 / 7739
5
 (HPO:0001880) Eosinophilia 35 / 7739
6
 (HPO:0002718) Recurrent bacterial infections 75 / 7739
7
 (HPO:0002733) Abnormality of the lymph nodes 3 / 7739
8
 (OMIM) Neutrophil chemotactic defect 1 / 7739
9
 (OMIM) Normal 14 / 7739
10
 (OMIM) Poor antibody response to vaccination 1 / 7739
11
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: