MCID: BRL011
MIFTS: 44

Bare Lymphocyte Syndrome, Type I

Categories: Genetic diseases, Rare diseases, Immune diseases

Aliases & Classifications for Bare Lymphocyte Syndrome, Type I

MalaCards integrated aliases for Bare Lymphocyte Syndrome, Type I:

Name: Bare Lymphocyte Syndrome, Type I 54 13 69
Hla Class I Deficiency 12 25 71 52
Bare Lymphocyte Syndrome Type I 12 25
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 1 71
Mhc Class 1 Deficiency 50
Bls, Type I 12
Bls Type I 71
Bls I 71
Blsi 12
Bls1 71

Characteristics:

OMIM:

54
Inheritance:
autosomal recessive

Miscellaneous:
reduced life expectancy


HPO:

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


Classifications:



Summaries for Bare Lymphocyte Syndrome, Type I

Genetics Home Reference : 25 Bare lymphocyte syndrome type I (BLS I) is an inherited disorder of the immune system (primary immunodeficiency). Immunodeficiencies are conditions in which the immune system is not able to protect the body effectively from foreign invaders such as bacteria or viruses. Starting in childhood, most people with BLS I develop recurrent bacterial infections in the lungs and airways (respiratory tract). These recurrent infections can lead to a condition called bronchiectasis, which damages the passages leading from the windpipe to the lungs (bronchi) and can cause breathing problems.

MalaCards based summary : Bare Lymphocyte Syndrome, Type I, also known as hla class i deficiency, is related to oro-mandibular-limb hypogenesis syndrome and postinfectious vasculitis, and has symptoms including bronchiolitis, bronchiectasis and ectopia lentis. An important gene associated with Bare Lymphocyte Syndrome, Type I is TAPBP (TAP Binding Protein), and among its related pathways/superpathways are Innate Immune System and Class I MHC mediated antigen processing and presentation. The drugs alemtuzumab and Busulfan have been mentioned in the context of this disorder. Affiliated tissues include lung and skin, and related phenotypes are hematopoietic system and immune system

UniProtKB/Swiss-Prot : 71 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.

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 via clinical synopsis from OMIM:

54

Respiratory- Airways:
bronchiolitis
unilateral bronchiectasis
bilateral bronchiectasis
bronchitis
bronchial obstruction
more
Skin Nails & Hair- Skin:
pigmentary abnormalities
localized cutaneous necrobiosis lipoidica
deep skin ulcers

Head And Neck- Nose:
nasal polyposis
chronic sinusitis
pansinusitis

Laboratory- Abnormalities:
normal cd8+/cd4+ ratio

Head And Neck- Eyes:
ectopia lentis

Head And Neck- Ears:
chronic otitis media

Respiratory- Lung:
emphysema


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 bronchiolitis 32 HP:0011950
2 bronchiectasis 32 HP:0002110
3 ectopia lentis 32 HP:0001083
4 chronic otitis media 32 HP:0000389
5 nasal polyposis 32 HP:0100582
6 chronic sinusitis 32 HP:0011109
7 emphysema 32 HP:0002097
8 recurrent bronchitis 32 HP:0002837
9 skin ulcer 32 HP:0200042

MGI Mouse Phenotypes related to Bare Lymphocyte Syndrome, Type I:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 9.73 KLRC1 MUC5B PDLIM7 SLAMF6 TAP1 TAP2
2 immune system MP:0005387 9.47 CD40 CD80 IL15 IL4 KLRC1 KLRD1

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 15)
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 Antirheumatic Agents
13 Antiviral Agents
14 Immunosuppressive Agents
15 Protective Agents

Interventional clinical trials:


id Name Status NCT ID Phase Drugs
1 Allogeneic Hematopoietic Stem Cell Transplant for Patients With Primary Immune Deficiencies Recruiting NCT01652092 Alemtuzumab 0.3 mg;Cyclophosphamide;Busulfan;Fludarabine phosphate 40 mg;Melphalan;Alemtuzumab 0.2 mg;Busulfan;Fludarabine phosphate 30 mg;MESNA

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
Lung, 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

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

(show all 14)
id Super pathways Score Top Affiliating Genes
1
Show member pathways
13.79 CD40 CD80 IL15 IL4 KLRC1 KLRD1
2
Show member pathways
13.18 CD40 CD80 KLRC1 KLRD1 LILRB1 MICA
3 12.33 IL4 TAP1 TAP2 ZAP70
4
Show member pathways
12.33 IL4 KLRC1 KLRD1 MICA ZAP70
5
Show member pathways
12.21 CD40 CD80 CXCL11 IL15 IL4 KLRC1
6 11.87 CD80 IL15 IL4 KLRC1 MME
7 11.76 CD40 KLRC1 KLRD1 LILRB1 MICA SLAMF6
8 11.6 IL15 IL4 KLRD1
9 11.53 CD40 IL4 SLAMF6
10 11.38 CD40 CD80 MME
11 11.19 CD40 CD80 IL4 ZAP70
12 11.07 CD40 RFX5 RFXANK RFXAP TAP1 TAP2
13 11.03 CD80 CXCL11 IL15 IL4
14 11.01 TAP1 TAP2 TAPBP

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 phagocytic vesicle membrane GO:0030670 9.43 TAP1 TAP2 TAPBP
2 external side of plasma membrane GO:0009897 9.35 CD40 CD80 IL4 KLRD1 LILRB1
3 endoplasmic reticulum-Golgi intermediate compartment membrane GO:0033116 9.33 TAP1 TAP2 TAPBP
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:

(show all 23)
id Name GO ID Score Top Affiliating Genes
1 immune system process GO:0002376 9.96 CD40 SLAMF6 TAP1 TAP2 ZAP70
2 immune response GO:0006955 9.93 CD40 CXCL11 IL15 IL4 TAPBP ZAP70
3 cellular response to lipopolysaccharide GO:0071222 9.77 CD40 CD80 LILRB1
4 antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent GO:0002479 9.72 TAP1 TAP2 TAPBP
5 adaptive immune response GO:0002250 9.72 LILRB1 SLAMF6 TAP1 TAP2 ZAP70
6 positive regulation of T cell proliferation GO:0042102 9.67 CD80 IL15 IL4
7 positive regulation of defense response to virus by host GO:0002230 9.61 IL4 LILRB1
8 defense response to protozoan GO:0042832 9.61 CD40 IL4
9 B cell activation GO:0042113 9.61 CD40 IL4 ZAP70
10 positive regulation of T cell differentiation GO:0045582 9.59 IL4 ZAP70
11 positive regulation of interleukin-17 production GO:0032740 9.58 IL15 SLAMF6
12 natural killer cell differentiation GO:0001779 9.58 IL15 SLAMF6
13 antigen processing and presentation of peptide antigen via MHC class I GO:0002474 9.58 TAP1 TAP2 TAPBP
14 dendritic cell differentiation GO:0097028 9.57 IL4 LILRB1
15 positive regulation of isotype switching to IgG isotypes GO:0048304 9.54 CD40 IL4
16 positive regulation of alpha-beta T cell proliferation GO:0046641 9.52 CD80 ZAP70
17 positive regulation of tyrosine phosphorylation of STAT protein GO:0042531 9.51 CD40 IL4
18 negative regulation of natural killer cell mediated cytotoxicity GO:0045953 9.48 LILRB1 MICA
19 peptide transport GO:0015833 9.43 TAP1 TAP2 TAPBP
20 cytosol to ER transport GO:0046967 9.37 TAP1 TAP2
21 antigen processing and presentation of endogenous peptide antigen via MHC class I GO:0019885 9.33 TAP1 TAP2 TAPBP
22 regulation of immune response GO:0050776 9.17 CD40 IL4 KLRC1 KLRD1 LILRB1 MICA
23 vesicle fusion with endoplasmic reticulum-Golgi intermediate compartment (ERGIC) membrane GO:1990668 9.13 TAP1 TAP2 TAPBP

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

(show all 11)
id Name GO ID Score Top Affiliating Genes
1 MHC protein binding GO:0042287 9.48 TAP1 TAP2
2 protein antigen binding GO:1990405 9.46 KLRC1 KLRD1
3 peptide-transporting ATPase activity GO:0015440 9.43 TAP1 TAP2
4 peptide transporter activity GO:0015197 9.4 TAP1 TAP2
5 TAP2 binding GO:0046979 9.37 TAP1 TAPBP
6 MHC class Ib protein binding GO:0023029 9.32 TAP1 TAP2
7 MHC class I protein complex binding GO:0023024 9.26 KLRC1 KLRD1
8 peptide antigen-transporting ATPase activity GO:0015433 9.16 TAP2 TAPBP
9 MHC class I protein binding GO:0042288 9.13 LILRB1 TAP1 TAPBP
10 TAP1 binding GO:0046978 8.8 TAP1 TAP2 TAPBP
11 protein binding GO:0005515 10.42 CD40 CD80 CXCL11 IL15 IL4 KLRC1

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 HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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