Idiopathic CD4 lymphocytopenia

General Information (adopted from Orphanet):

Synonyms, Signs: IDIOPATHIC CD4 LYMPHOPENIA
ICL
IMD13
Number of Symptoms 18
OrphanetNr: 228000
OMIM Id: 615518
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Not applicable
[Orphanet]
Age of onset: Adult
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Genetic susceptibility to infections due to particular pathogens
 -Rare genetic disease
 -Rare immune disease

Symptom Information: Sort by abundance 

1
 (HPO:0011108) Recurrent sinusitis 30 / 7739
2
 (HPO:0000403) Recurrent otitis media 61 / 7739
3
 (HPO:0001888) Lymphopenia 43 / 7739
4
 (HPO:0011945) Bronchiolitis obliterans organizing pneumonia 2 / 7739
5
 (HPO:0002721) Immunodeficiency 97 / 7739
6
 (OMIM) Partial loss of nails 1 / 7739
7
 (OMIM) Reduced CD4 T-lymphocyte counts 1 / 7739
8
 (OMIM) Reduced CD3 T-lymphocyte counts 1 / 7739
9
 (OMIM) Recurrent shingles 1 / 7739
10
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
11
 (OMIM) Persistent severe fungal infections of fingernails and toenails 1 / 7739
12
 (OMIM) Normal levels of IgM, IgA, and IgG 1 / 7739
13
 (OMIM) Normal response to bacterial antigens 1 / 7739
14
 (OMIM) Herpetic lesions 1 / 7739
15
 (OMIM) Recurrent bacterial pneumonia 1 / 7739
16
 (OMIM) Severely reduced response to mitogens 1 / 7739
17
 (OMIM) Fungal dermatitis 1 / 7739
18
 (OMIM) Severely reduced response to Candida and tetanus toxoid antigens 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Idiopathic CD4 lymphopenia (ICL) is a rare and heterogeneous syndrome defined by a reproducible reduction in the CD4 T-lymphocyte count (less than 300 cells per microliter or less than 20% of total T cells) in the absence of ...
Clinical Description OMIM Gorska and Alam (2012) studied a 32-year-old woman who had a history of recurrent sinusitis, otitis media, and shingles; persistent severe fungal infections of fingernails and toenails with partial loss of nails; fungal dermatitis; 2 episodes of bacterial ...
Molecular genetics OMIM In a 32-year-old woman, 1 of 3 patients with CD4 lymphopenia in whom known causes had been excluded, Gorska and Alam (2012) identified a missense mutation in the UNC119 gene (G22V; 604011.0002). To confirm that the reduction in ...