IMMUNODEFICIENCY WITH DEFECTIVE LEUKOCYTE AND LYMPHOCYTE FUNCTIONAND WITH RESPONSE TO HISTAMINE-1 ANTAGONIST

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 14
OrphanetNr:
OMIM Id: 146840
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0000495) Recurrent corneal erosions 20 / 7739
2
(HPO:0000559) Corneal scarring 9 / 7739
3
(HPO:0001047) Atopic dermatitis 20 / 7739
4
(HPO:0000999) Pyoderma 7 / 7739
5
(HPO:0003347) Impaired lymphocyte transformation with phytohemagglutinin 6 / 7739
6
(HPO:0005512) Impaired neutrophil killing of staphylococci 3 / 7739
7
(HPO:0002721) Immunodeficiency 97 / 7739
8
(MedDRA:10016936) Folliculitis 5 / 7739
9
(OMIM) Defective lymphocyte proliferative responses to phytomitogens 1 / 7739
10
(OMIM) Defective intracellular killing of microbial organisms 1 / 7739
11
(OMIM) Subnormal immunoglobulin production after stimulation of lymphocytes by pokeweed mitogen 1 / 7739
12
(OMIM) Defective leukocyte chemiluminescence responses 1 / 7739
13
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739
14
(OMIM) Normal chemotaxis 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Jung et al. (1983) identified a familial immunodeficiency disease characterized by recurrent and persistent pyoderma, folliculitis, and atopic dermatitis. An affected father, aged 39 years, and his affected 11-year-old son were studied. The father's father, who had died, ...