Information on BLS1B
Basic details
Name: Bare lymphocyte syndrome type 1B | Acronym: BLS1B
Alt. names: MHC class I deficiency 2 | MHC1D2
Gene: TAP2 | MOI: Autosomal recessive | Mechanism of action:
No. of cases in DB: 0 | First reported in: 1994
Last updated on: 2023-02-28 16:41:18 by
Description
It is characterized by the onset of chronic bacterial sinobronchial infections in the first or second decades of life. Nasal polyps are common, and chronic necrotizing granulomatous lesions affecting the nasal cavity, upper respiratory tract, or skin, which can be severe, may develop later. The disorder is progressive and patients may develop bronchiectasis and respiratory failure. Patient cells have decreased or absent expression of MHC type I (HLA class I) antigens on the cell surface (summary by de La Salle et al., 1994; Moins-Teisserenc et al., 1999)[source:OMIM]
Management
Description of management option has not been reviewed yet.
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0 reported cases added to GenIA
| SubjectID | Sex | Fam.ID | AD | AFM | Validity | Country | Population | Reference & Pub.code |
|---|
AD: Age at genetic diagnosis; AFM: age at first manifestation; PMID: PubMed ID; GRID: GenIA reference ID (ref. not in PubMed).
Summary of clinical findings
[Considering only Definitive and Possible cases]
| Rank | Clinical term | Present | Absent | Unreported |
|---|---|---|---|---|
| 1 | Childhood onset |
3 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 2 | Chronic bronchitis |
3 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 3 | Chronic sinusitis |
3 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 4 | Chronic rhinitis |
2 (66.7%) | 0 (0.0%) | 1 (33.3%) |
| 5 | Nasal polyps |
2 (66.7%) | 0 (0.0%) | 1 (33.3%) |
| 6 | Bronchiectasis |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 7 | Infection of the gastrointestinal tract |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 8 | Recurrent respiratory infections |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 9 | cytoplasmic antineutrophil antibodies |
0 (0.0%) | 0 (0.0%) | 1 (99.9%) |
| 10 | Recurrent viral infections |
0 (0.0%) | 0 (0.0%) | 1 (99.9%) |
| 11 | (unusual) Viral infection |
0 (0.0%) | 0 (0.0%) | 3 (99.9%) |
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Summary of treatment outcomes
[Considering only Definitive and Possible cases]
| Treatment ⓘ | Responses & clinical indications |
|---|
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