IMMUNODEFICIENCY WITH DEFECTIVE T-CELL RESPONSE TO INTERLEUKIN 1

General Information (adopted from Orphanet):

Synonyms, Signs: INTERLEUKIN 1, DEFECTIVE T-CELL RESPONSE TO
Number of Symptoms 12
OrphanetNr:
OMIM Id: 243110
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance:
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0000403) Recurrent otitis media 61 / 7739
2
(HPO:0001510) Growth delay 295 / 7739
3
(HPO:0001939) Abnormality of metabolism/homeostasis 328 / 7739
4
(HPO:0006532) Recurrent pneumonia 48 / 7739
5
(HPO:0002719) Recurrent infections 107 / 7739
6
(OMIM) Leukocyte proliferative response to phytohemagglutinin low 1 / 7739
7
(OMIM) Circulating T-cell subset distribution normal 1 / 7739
8
(OMIM) Monocyte function normal 1 / 7739
9
(OMIM) Normal immunoglobulin levels 1 / 7739
10
(OMIM) Leukocyte proliferative response to antigen absent 1 / 7739
11
(OMIM) T-cell response to interleukin-1 (IL1) defective 1 / 7739
12
(OMIM) In vitro response to tetanus toxoid absent 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Chu et al. (1984) studied a 10-year-old Lebanese male with a history of recurrent pneumonia and otitis media beginning at age 2 months. At age 3 years, he had an episode of severe herpes zoster. He had failed ...