Immunodeficiency by defective expression of HLA class 1

General Information (adopted from Orphanet):

Synonyms, Signs: HLA CLASS I DEFICIENCY
BLS, TYPE I
Bare lymphocyte syndrome type 1
Number of Symptoms 20
OrphanetNr: 34592
OMIM Id: 604571
ICD-10: D81.6
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

Parent Diseases: Combined T and B cell immunodeficiency
 -Rare genetic disease
 -Rare immune disease

Symptom Information: Sort by abundance 

1
 (HPO:0002837) Recurrent bronchitis 21 / 7739
2
 (HPO:0100582) Nasal polyposis 14 / 7739
3
 (HPO:0011109) Chronic sinusitis 17 / 7739
4
 (HPO:0000246) Sinusitis 73 / 7739
5
 (HPO:0001083) Ectopia lentis 45 / 7739
6
 (HPO:0000389) Chronic otitis media 64 / 7739
7
 (HPO:0200042) Skin ulcer 138 / 7739
8
 (HPO:0011950) Bronchiolitis 8 / 7739
9
 (HPO:0002110) Bronchiectasis 73 / 7739
10
 (HPO:0012387) Bronchitis 8 / 7739
11
 (HPO:0002097) Emphysema 40 / 7739
12
 (OMIM) Localized cutaneous necrobiosis lipoidica 1 / 7739
13
 (OMIM) Bilateral bronchiectasis 1 / 7739
14
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
15
 (OMIM) Unilateral bronchiectasis 1 / 7739
16
 (OMIM) Normal CD8+/CD4+ ratio 1 / 7739
17
 (OMIM) Bacterial infections of the respiratory tract 1 / 7739
18
 (OMIM) Pigmentary abnormalities 3 / 7739
19
 (MedDRA:10006440) Bronchial obstruction 2 / 7739
20
 (OMIM) Deep skin ulcers 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM In the review by de la Salle et al. (1999), only 9 well-documented cases of HLA class I deficiency with normal expression of class II molecules were found. Contrary to type II (209920) and type III bare lymphocyte ...
Molecular genetics OMIM In a family in Morocco with type I BLS, de la Salle et al. (1994) identified a mutation in the TAP2 gene (see 170261.0004).

In patients with type I BLS with granulomatous changes, Moins-Teisserenc et al. ...