BLS1
MCID: BRL011
MIFTS: 37

Bare Lymphocyte Syndrome, Type I (BLS1) malady

Categories: Genetic diseases, Rare diseases, Immune diseases

Aliases & Classifications for Bare Lymphocyte Syndrome, Type I

Aliases & Descriptions for Bare Lymphocyte Syndrome, Type I:

Name: Bare Lymphocyte Syndrome, Type I 54 13 69
Hla Class I Deficiency 12 66 52
Mhc Class I Deficiency 12 14
Bare Lymphocyte Syndrome, Type I, Due to Tap2 Deficiency 54
Major Histocompatibility Complex Class 1 Deficiency 50
Bare Lymphocyte Syndrome Type I 12
Bare Lymphocyte Syndrome 1 66
Mhc Class 1 Deficiency 50
Bls, Type I 12
Bls Type I 66
Bls I 66
Blsi 12
Bls1 66

Characteristics:

HPO:

32
bare lymphocyte syndrome, type i:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 54 604571
Disease Ontology 12 DOID:0060009
MedGen 40 C1858266
MeSH 42 D007153
ICD10 33 D81.6

Summaries for Bare Lymphocyte Syndrome, Type I

UniProtKB/Swiss-Prot : 66 Bare lymphocyte syndrome 1: A HLA class I deficiency. Contrary to bare lymphocyte syndromes type 2 and type 3, which are characterized by early-onset severe combined immunodeficiency, class I antigen deficiencies are not accompanied by particular pathologic manifestations during the first years of life. Systemic infections have not been described. Chronic bacterial infections, often beginning in the first decade of life, are restricted to the respiratory tract.

MalaCards based summary : Bare Lymphocyte Syndrome, Type I, also known as hla class i deficiency, is related to immunodeficiency by defective expression of hla class 1 and oropharyngeal cancer, childhood, and has symptoms including chronic otitis media, emphysema and skin ulcer. An important gene associated with Bare Lymphocyte Syndrome, Type I is TAPBP (TAP Binding Protein), and among its related pathways/superpathways are Class I MHC mediated antigen processing and presentation and NF-kappaB Signaling. The drugs alemtuzumab and Busulfan have been mentioned in the context of this disorder. Affiliated tissues include skin.

Description from OMIM: 604571

Related Diseases for Bare Lymphocyte Syndrome, Type I

Graphical network of the top 20 diseases related to Bare Lymphocyte Syndrome, Type I:



Diseases related to Bare Lymphocyte Syndrome, Type I

Symptoms & Phenotypes for Bare Lymphocyte Syndrome, Type I

Symptoms by clinical synopsis from OMIM:

604571

Clinical features from OMIM:

604571

Human phenotypes related to Bare Lymphocyte Syndrome, Type I:

32 (show all 9)
id Description HPO Frequency HPO Source Accession
1 chronic otitis media 32 HP:0000389
2 emphysema 32 HP:0002097
3 skin ulcer 32 HP:0200042
4 ectopia lentis 32 HP:0001083
5 nasal polyposis 32 HP:0100582
6 bronchiectasis 32 HP:0002110
7 chronic sinusitis 32 HP:0011109
8 recurrent bronchitis 32 HP:0002837
9 bronchiolitis 32 HP:0011950

Drugs & Therapeutics for Bare Lymphocyte Syndrome, Type I

Drugs for Bare Lymphocyte Syndrome, Type I (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 16)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
alemtuzumab Approved, Investigational 216503-57-0
2
Busulfan Approved, Investigational 55-98-1 2478
3
Cyclophosphamide Approved, Investigational 50-18-0, 6055-19-2 2907
4
Fludarabine Approved 21679-14-1, 75607-67-9 30751
5
Melphalan Approved 148-82-3 4053 460612
6
Mesna Approved 3375-50-6 598
7
Vidarabine Approved 24356-66-9 32326 21704
8 Alkylating Agents
9 Anti-Infective Agents
10 Antimetabolites
11 Antimetabolites, Antineoplastic
12 Antineoplastic Agents, Alkylating
13 Antirheumatic Agents
14 Antiviral Agents
15 Immunosuppressive Agents
16 Protective Agents

Interventional clinical trials:


id Name Status NCT ID Phase
1 Allogeneic Hematopoietic Stem Cell Transplant for Patients With Primary Immune Deficiencies Recruiting NCT01652092

Search NIH Clinical Center for Bare Lymphocyte Syndrome, Type I

Genetic Tests for Bare Lymphocyte Syndrome, Type I

Anatomical Context for Bare Lymphocyte Syndrome, Type I

MalaCards organs/tissues related to Bare Lymphocyte Syndrome, Type I:

39
Skin

Publications for Bare Lymphocyte Syndrome, Type I

Articles related to Bare Lymphocyte Syndrome, Type I:

id Title Authors Year
1
Prolonged survival of a bare lymphocyte syndrome type I patient with diffuse panbronchiolitis treated with erythromycin. ( 11587107 )
2001
2
Tolerance of NK and LAK activity for HLA class I-deficient targets in a TAP1-deficient patient (bare lymphocyte syndrome type I). ( 9952025 )
1999

Variations for Bare Lymphocyte Syndrome, Type I

ClinVar genetic disease variations for Bare Lymphocyte Syndrome, Type I:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 TAPBP TAPBP, 7.4-KB DEL deletion Pathogenic
2 TAP2 TAP2, ARG253TER single nucleotide variant Pathogenic
3 TAP2 TAP2, 1-BP DEL deletion Pathogenic
4 TAP1 TAP1, IVS1, G-A, -1 single nucleotide variant Pathogenic

Expression for Bare Lymphocyte Syndrome, Type I

Search GEO for disease gene expression data for Bare Lymphocyte Syndrome, Type I.

Pathways for Bare Lymphocyte Syndrome, Type I

GO Terms for Bare Lymphocyte Syndrome, Type I

Cellular components related to Bare Lymphocyte Syndrome, Type I according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 endoplasmic reticulum-Golgi intermediate compartment membrane GO:0033116 9.43 TAP1 TAP2 TAPBP
2 phagocytic vesicle membrane GO:0030670 9.26 B2M TAP1 TAP2 TAPBP
3 host cell GO:0043657 9.16 TAP1 TAP2
4 TAP complex GO:0042825 8.8 TAP1 TAP2 TAPBP

Biological processes related to Bare Lymphocyte Syndrome, Type I according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent GO:0002479 9.62 B2M TAP1 TAP2 TAPBP
2 peptide transport GO:0015833 9.43 TAP1 TAP2 TAPBP
3 intracellular transport of viral protein in host cell GO:0019060 9.4 TAP1 TAP2
4 cytosol to ER transport GO:0046967 9.37 TAP1 TAP2
5 vesicle fusion with endoplasmic reticulum-Golgi intermediate compartment (ERGIC) membrane GO:1990668 9.33 TAP1 TAP2 TAPBP
6 antigen processing and presentation of peptide antigen via MHC class I GO:0002474 9.26 B2M TAP1 TAP2 TAPBP
7 antigen processing and presentation of endogenous peptide antigen via MHC class I GO:0019885 8.92 B2M TAP1 TAP2 TAPBP

Molecular functions related to Bare Lymphocyte Syndrome, Type I according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 ATPase activity, coupled to transmembrane movement of substances GO:0042626 9.48 TAP1 TAP2
2 peptide antigen binding GO:0042605 9.46 TAP1 TAPBP
3 MHC class I protein binding GO:0042288 9.43 TAP1 TAPBP
4 MHC protein binding GO:0042287 9.4 TAP1 TAP2
5 peptide-transporting ATPase activity GO:0015440 9.37 TAP1 TAP2
6 peptide transporter activity GO:0015197 9.32 TAP1 TAP2
7 TAP2 binding GO:0046979 9.26 TAP1 TAPBP
8 MHC class Ib protein binding GO:0023029 9.16 TAP1 TAP2
9 peptide antigen-transporting ATPase activity GO:0015433 8.96 TAP2 TAPBP
10 TAP1 binding GO:0046978 8.8 TAP1 TAP2 TAPBP

Sources for Bare Lymphocyte Syndrome, Type I

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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