BLS2
MCID: BRL012
MIFTS: 61

Bare Lymphocyte Syndrome, Type Ii (BLS2)

Categories: Blood diseases, Gastrointestinal diseases, Genetic diseases, Immune diseases, Rare diseases, Respiratory diseases

Aliases & Classifications for Bare Lymphocyte Syndrome, Type Ii

MalaCards integrated aliases for Bare Lymphocyte Syndrome, Type Ii:

Name: Bare Lymphocyte Syndrome, Type Ii 58
Bare Lymphocyte Syndrome 2 77 54 76 30 6 74
Bare Lymphocyte Syndrome 58 77 54 56 74
Mhc Class Ii Deficiency 12 26 6 15
Bare Lymphocyte Syndrome, Type Ii, Complementation Group C 58 30 6
Bare Lymphocyte Syndrome, Type Ii, Complementation Group D 58 30 6
Severe Combined Immunodeficiency, Hla Class Ii-Negative 58 54 26
Major Histocompatibility Complex Class Ii Deficiency 26 76 74
Bare Lymphocyte Syndrome Type Ii 12 26 76
Bare Lymphocyte Syndrome Type 2 54 26 60
Bare Lymphocyte Syndrome, Type Ii, Complementation Group a 58 13
Bare Lymphocyte Syndrome, Type Ii, Complementation Group B 30 6
Bare Lymphocyte Syndrome Type 2, Complementation Group a 30 6
Bare Lymphocyte Syndrome Type 2, Complementation Group E 30 6
Scid Due to Absent Class Ii Hla Antigens 12 41
Severe Combined Immunodeficiency 45 74
Scid, Hla Class Ii-Negative 58 26
Scid, Hla Class 2-Negative 54 26
Hla Class 1 Deficiency 54 74
Bls Type Ii 26 76
Severe Combined Immunodeficiency Due to Absent Class Ii Human Leukocyte Antigens 26
Major Histocompatibility Complex Class Ii Expression Deficiency 60
Bare Lymphocyte Syndrome, Type Ii, Complementation Group E 58
Bare Lymphocyte Syndrome Type Ii Complementation Group a 76
Bare Lymphocyte Syndrome Type Ii Complementation Group B 76
Bare Lymphocyte Syndrome Type Ii Complementation Group C 76
Bare Lymphocyte Syndrome Type Ii Complementation Group D 76
Bare Lymphocyte Syndrome Type Ii Complementation Group E 76
Immunodeficiency by Defective Expression of Hla Class 2 60
Severe Combined Immunodeficiency Hla Class Ii-Negative 76
Hla Class 2-Negative Severe Combined Immunodeficiency 60
Mhc Class Ii Deficiency, Complementation Group B 58
Hla Class Ii Deficient Combined Immunodeficiency 76
Scid Due to Absence of Class Ii Hla Antigens 26
Mhc Class Ii Expression Deficiency 60
Hereditary Mhc Class Ii Deficiency 76
Bare Lymphocyte Syndrome; Bls 58
Scid Hla Class Ii-Negative 76
Hla Class 2-Negative Scid 60
Mhc-Ii Deficiency 76
Bls, Type Ii 58
Bls Type 1 54
Bls Ii 76
Blsii 12
Bls 2 54
Bls2 76
Bls 58

Characteristics:

Orphanet epidemiological data:

60
immunodeficiency by defective expression of hla class 2
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
majority of children die between 6 months and 5 yrs


HPO:

33
bare lymphocyte syndrome, type ii:
Inheritance autosomal dominant inheritance autosomal recessive inheritance


Classifications:



Summaries for Bare Lymphocyte Syndrome, Type Ii

NIH Rare Diseases : 54 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 572Disease definitionImmunodeficiency by defective expression of HLA class 2 is a rare primary genetic immunodeficiency disorder characterized by partial or complete absence of human leukocyte antigen class 2 expression resulting in severe defect in both cellular and humoral immune response to antigens. The disorder presents clinically as marked susceptibility to infections, severe malabsorption and failure to thrive and is often fatal in early childhood.Visit the Orphanet disease page for more resources.

MalaCards based summary : Bare Lymphocyte Syndrome, Type Ii, also known as bare lymphocyte syndrome 2, is related to bare lymphocyte syndrome, type i and immunodeficiency 17. An important gene associated with Bare Lymphocyte Syndrome, Type Ii is RFXANK (Regulatory Factor X Associated Ankyrin Containing Protein), and among its related pathways/superpathways are Innate Immune System and Cytokine Signaling in Immune system. The drugs Hydroxyurea and Melphalan have been mentioned in the context of this disorder. Affiliated tissues include t cells, b cells and prostate, and related phenotypes are failure to thrive and neutropenia

Genetics Home Reference : 26 Bare lymphocyte syndrome type II (BLS II) is an inherited disorder of the immune system categorized as a form of combined immunodeficiency (CID). People with BLS II lack virtually all immune protection from bacteria, viruses, and fungi. They are prone to repeated and persistent infections that can be very serious or life-threatening. These infections are often caused by "opportunistic" organisms that ordinarily do not cause illness in people with a normal immune system.

UniProtKB/Swiss-Prot : 76 Bare lymphocyte syndrome 2: A severe combined immunodeficiency disease with early onset. It is characterized by a profound defect in constitutive and interferon- gamma induced MHC II expression, absence of cellular and humoral T- cell response to antigen challenge, hypogammaglobulinemia and impaired antibody production. The consequence include extreme susceptibility to viral, bacterial and fungal infections.

Wikipedia : 77 Bare lymphocyte syndrome type II (BLS II) is a rare recessive genetic condition in which a group of... more...

Description from OMIM: 209920

Related Diseases for Bare Lymphocyte Syndrome, Type Ii

Diseases in the Bare Lymphocyte Syndrome, Type Ii family:

Bare Lymphocyte Syndrome, Type I

Diseases related to Bare Lymphocyte Syndrome, Type Ii via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 337)
# Related Disease Score Top Affiliating Genes
1 bare lymphocyte syndrome, type i 34.0 RFX5 RFXANK RFXAP TAP2
2 immunodeficiency 17 32.0 CARD9 DOCK8
3 severe combined immunodeficiency 29.9 CIITA RFX5 RFXANK RFXAP
4 combined t cell and b cell immunodeficiency 29.8 CIITA DOCK8 RFX5 RFXAP
5 rubella 29.4 HLA-A TRIM22
6 severe combined immunodeficiency, x-linked 13.0
7 severe combined immunodeficiency with sensitivity to ionizing radiation 13.0
8 severe combined immunodeficiency, autosomal recessive, t cell-negative, b cell-positive, nk cell-negative 13.0
9 severe combined immunodeficiency, autosomal recessive, t cell-negative, b cell-positive, nk cell-positive 12.9
10 severe combined immunodeficiency, autosomal recessive, t cell-negative, b cell-negative, nk cell-negative, due to adenosine deaminase deficiency 12.8
11 severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation 12.7
12 short-limb skeletal dysplasia with severe combined immunodeficiency 12.7
13 jak3-deficient severe combined immunodeficiency 12.6
14 zap70-related severe combined immunodeficiency 12.6
15 severe combined immunodeficiency, atypical 12.5
16 t-b+ severe combined immunodeficiency due to cd3delta/cd3epsilon/cd3zeta 12.4
17 severe combined immunodeficiency due to ikk2 deficiency 12.4
18 reticular dysgenesis 12.4
19 adenosine deaminase deficiency 12.3
20 burkitt lymphoma 12.3
21 severe combined immunodeficiency due to cd70 deficiency 12.3
22 immunodeficiency 18 12.2
23 omenn syndrome 12.1
24 immunodeficiency 19 12.1
25 immunodeficiency 49 12.0
26 immunodeficiency 52 12.0
27 immunodeficiency 26 with or without neurologic abnormalities 12.0
28 immunodeficiency by defective expression of hla class 1 11.9
29 immunodeficiency 8 11.9
30 immunodeficiency 11 11.8
31 immunodeficiency 22 11.8
32 immunodeficiency 24 11.6
33 lig4 syndrome 11.6
34 zap-70 deficiency 11.6
35 immunodeficiency 9 11.6
36 janus kinase-3 deficiency 11.5
37 t-cell immunodeficiency, congenital alopecia, and nail dystrophy 11.5
38 bloom syndrome 11.4
39 coronin-1a deficiency 11.3
40 blind loop syndrome 11.3
41 hypothyroidism, thyroidal or athyroidal, with spiky hair and cleft palate 11.1
42 gastrointestinal defects and immunodeficiency syndrome 11.0
43 immunoskeletal dysplasia with neurodevelopmental abnormalities 11.0
44 cd3zeta deficiency 11.0
45 recombinase activating gene 1 deficiency 11.0
46 recombinase activating gene 2 deficiency 11.0
47 cd45 deficiency 11.0
48 interleukin-7 receptor alpha deficiency 11.0
49 lymphoma 10.6
50 combined cellular and humoral immune defects with granulomas 10.4

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



Diseases related to Bare Lymphocyte Syndrome, Type Ii

Symptoms & Phenotypes for Bare Lymphocyte Syndrome, Type Ii

Human phenotypes related to Bare Lymphocyte Syndrome, Type Ii:

60 33 (show all 50)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 failure to thrive 60 33 Frequent (79-30%) HP:0001508
2 neutropenia 60 33 Occasional (29-5%) HP:0001875
3 recurrent bacterial infections 60 33 Frequent (79-30%) HP:0002718
4 chronic mucocutaneous candidiasis 60 33 Frequent (79-30%) HP:0002728
5 recurrent viral infections 60 33 Frequent (79-30%) HP:0004429
6 recurrent fungal infections 60 33 Frequent (79-30%) HP:0002841
7 panhypogammaglobulinemia 60 33 Occasional (29-5%) HP:0003139
8 protracted diarrhea 60 33 Frequent (79-30%) HP:0004385
9 recurrent protozoan infections 60 33 Frequent (79-30%) HP:0005386
10 dysarthria 60 Very rare (<4-1%)
11 encephalitis 33 HP:0002383
12 recurrent respiratory infections 60 Very frequent (99-80%)
13 abnormal facial shape 60 Very rare (<4-1%)
14 malabsorption 33 HP:0002024
15 pancytopenia 60 Occasional (29-5%)
16 sinusitis 60 Frequent (79-30%)
17 recurrent upper respiratory tract infections 33 HP:0002788
18 autoimmunity 60 Occasional (29-5%)
19 gait ataxia 60 Very rare (<4-1%)
20 decreased antibody level in blood 60 Frequent (79-30%)
21 diarrhea 60 Frequent (79-30%)
22 skin rash 60 Occasional (29-5%)
23 agammaglobulinemia 33 HP:0004432
24 recurrent urinary tract infections 33 HP:0000010
25 decreased proportion of cd4-positive t cells 60 Frequent (79-30%)
26 decreased lymphocyte proliferation in response to mitogen 60 Occasional (29-5%)
27 recurrent herpes 60 Frequent (79-30%)
28 decrease in t cell count 60 Occasional (29-5%)
29 recurrent infection of the gastrointestinal tract 60 Very frequent (99-80%)
30 rhinitis 60 Frequent (79-30%)
31 autoimmune hemolytic anemia 60 Occasional (29-5%)
32 autoimmune thrombocytopenia 60 Occasional (29-5%)
33 neutropenia in presence of anti-neutropil antibodies 60 Occasional (29-5%)
34 sclerosing cholangitis 60 Frequent (79-30%)
35 viral hepatitis 33 HP:0006562
36 villous atrophy 33 HP:0011473
37 colitis 33 HP:0002583
38 reduced mhc ii surface expression 60 Obligate (100%)
39 lack of t cell function 60 Very frequent (99-80%)
40 recurrent staphylococcus aureus infections 60 Frequent (79-30%)
41 abnormality of humoral immunity 60 Frequent (79-30%)
42 recurrent candida infections 60 Frequent (79-30%)
43 decreased circulating beta-2-microglobulin level 60 Frequent (79-30%)
44 chronic hepatitis due to cryptosporidium infection 60 Frequent (79-30%)
45 acute otitis media 60 Occasional (29-5%)
46 abnormal cd4:cd8 ratio 60 Occasional (29-5%)
47 cholangitis 33 HP:0030151
48 recurrent lower respiratory tract infections 33 HP:0002783
49 chronic lymphocytic meningitis 33 HP:0007041
50 cutaneous anergy 33 HP:0002965

Symptoms via clinical synopsis from OMIM:

58
Growth Other:
failure to thrive

Hematology:
neutropenia
severe autoimmune cytopenia

Abdomen Liver:
viral hepatitis
progressive liver disease

Respiratory Airways:
upper respiratory tract infections
lower respiratory tract infections

Skin Nails Hair Skin:
mucocutaneous candidiasis

Laboratory Abnormalities:
normal number of t and b lymphocytes
reduced cd4+ count and proportionally increased cd8+ count
panhypogammaglobulinemia or agammaglobulinemia
absence of delayed hypersensitivity skin test

Abdomen Gastrointestinal:
malabsorption
protracted diarrhea
variable degree of villous atrophy
intraepithelial infiltration by lymphocytes, macrophages, plasma cells
severe colitis

Genitourinary:
recurrent urinary tract infections

Neurologic Central Nervous System:
chronic lymphocytic meningitis
meningoencephalitis
poliomyelitis

Abdomen Biliary Tract:
pseudosclerosing cholangitis
bacterial cholangitis

Immunology:
absence of humoral and cellular immune response to foreign antigens
frequent bacterial, viral, protozoan, and fungal infections
susceptible to vaccine-induced polio

Clinical features from OMIM:

209920

Drugs & Therapeutics for Bare Lymphocyte Syndrome, Type Ii

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

(show all 21)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Hydroxyurea Approved Phase 2 127-07-1 3657
2
Melphalan Approved Phase 2,Not Applicable 148-82-3 460612 4053
3
alemtuzumab Approved, Investigational Phase 2,Not Applicable 216503-57-0
4
Fludarabine Approved Phase 2,Not Applicable 75607-67-9, 21679-14-1 30751
5
Thiotepa Approved, Investigational Phase 2 52-24-4 5453
6 Immunosuppressive Agents Phase 2,Not Applicable
7 Antineoplastic Agents, Alkylating Phase 2,Not Applicable
8 Antineoplastic Agents, Immunological Phase 2,Not Applicable
9 Nucleic Acid Synthesis Inhibitors Phase 2
10 Antimetabolites, Antineoplastic Phase 2,Not Applicable
11 Antimetabolites Phase 2,Not Applicable
12 Immunologic Factors Phase 2,Not Applicable
13 Alkylating Agents Phase 2,Not Applicable
14
Busulfan Approved, Investigational Not Applicable 55-98-1 2478
15
Vidarabine Approved, Investigational Not Applicable 24356-66-9 21704 32326
16
Cyclophosphamide Approved, Investigational Not Applicable 50-18-0, 6055-19-2 2907
17
Mesna Approved, Investigational Not Applicable 3375-50-6 598
18 Anti-Infective Agents Not Applicable
19 Protective Agents Not Applicable
20 Antirheumatic Agents Not Applicable
21 Antiviral Agents Not Applicable

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Reduced Intensity Conditioning for Non-Malignant Disorders Undergoing UCBT, BMT or PBSCT Recruiting NCT01962415 Phase 2 Hydroxyurea;Alemtuzumab;Fludarabine;Melphalan;Thiotepa
2 Allogeneic Hematopoietic Stem Cell Transplant for Patients With Primary Immune Deficiencies Recruiting NCT01652092 Not Applicable 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 Ii

Inferred drug relations via UMLS 74 / NDF-RT 52 :


Cochrane evidence based reviews: severe combined immunodeficiency

Genetic Tests for Bare Lymphocyte Syndrome, Type Ii

Genetic tests related to Bare Lymphocyte Syndrome, Type Ii:

# Genetic test Affiliating Genes
1 Bare Lymphocyte Syndrome 2 30 CIITA RFX5 RFXANK RFXAP
2 Bare Lymphocyte Syndrome Type 2, Complementation Group a 30
3 Bare Lymphocyte Syndrome, Type Ii, Complementation Group D 30
4 Bare Lymphocyte Syndrome, Type Ii, Complementation Group C 30
5 Bare Lymphocyte Syndrome Type 2, Complementation Group E 30
6 Bare Lymphocyte Syndrome, Type Ii, Complementation Group B 30

Anatomical Context for Bare Lymphocyte Syndrome, Type Ii

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

42
T Cells, B Cells, Prostate, Thyroid, Myeloid, Lung, Skin

Publications for Bare Lymphocyte Syndrome, Type Ii

Articles related to Bare Lymphocyte Syndrome, Type Ii:

(show top 50) (show all 81)
# Title Authors Year
1
Tumor genomic alterations in severe-combined immunodeficiency bare-lymphocyte syndrome genes are associated with high mutational burden and disproportional neo-antigen rates. ( 31064401 )
2019
2
Type II bare lymphocyte syndrome: role of peripheral blood flow cytometry and utility of stem cell transplant in treatment. ( 25354255 )
2015
3
Disseminated Bacillus Calmette-Guérin (BCG) infection following allogeneic hematopoietic stem cell transplant in a patient with Bare Lymphocyte Syndrome type II. ( 24995715 )
2014
4
Newborn screening for severe combined immunodeficiency does not identify bare lymphocyte syndrome. ( 23453137 )
2013
5
Comments on type I bare lymphocyte syndrome. ( 22321372 )
2012
6
Type III bare lymphocyte syndrome associated with a novel RFXAP mutation: a case report. ( 22390233 )
2012
7
Bare lymphocyte syndrome: an opportunity to discover our immune system. ( 22027563 )
2012
8
A novel mutation in the TAP2 gene in bare lymphocyte syndrome: association with metastatic cutaneous squamous cell carcinoma. ( 20083708 )
2010
9
Complementation cloning of an MHC class II transactivator mutated in hereditary MHC class II deficiency (or bare lymphocyte syndrome). 1993. ( 17513710 )
2007
10
Conserved residues of the bare lymphocyte syndrome transcription factor RFXAP determine coordinate MHC class II expression. ( 16337482 )
2006
11
Evolutionary conservation and characterization of the bare lymphocyte syndrome transcription factor RFX-B and its paralogue ANKRA2. ( 15655668 )
2005
12
Novel mutations in the RFXANK gene: RFX complex containing in-vitro-generated RFXANK mutant binds the promoter without transactivating MHC II. ( 12618906 )
2003
13
Three novel mutations of the CIITA gene in MHC class II-deficient patients with a severe immunodeficiency. ( 11862382 )
2002
14
A subject with a novel type I bare lymphocyte syndrome has tapasin deficiency due to deletion of 4 exons by Alu-mediated recombination. ( 12149238 )
2002
15
Mutation in a winged-helix DNA-binding motif causes atypical bare lymphocyte syndrome. ( 12368908 )
2002
16
Prolonged survival of a bare lymphocyte syndrome type I patient with diffuse panbronchiolitis treated with erythromycin. ( 11587107 )
2001
17
The bare lymphocyte syndrome and the regulation of MHC expression. ( 11244040 )
2001
18
Bare lymphocyte syndrome: imaging findings in an adult. ( 11372614 )
2001
19
Effect of IFN-gamma on expression of HLA in bare-lymphocyte syndrome-like cell line HAJ. ( 11814240 )
2001
20
Uncoordinated HLA-D gene expression in a RFXANK-defective patient with MHC class II deficiency. ( 11313409 )
2001
21
Analysis of ankyrin repeats reveals how a single point mutation in RFXANK results in bare lymphocyte syndrome. ( 11463838 )
2001
22
MHC class II deficiency: a disease of gene regulation. ( 11704716 )
2001
23
Founder effect for a 26-bp deletion in the RFXANK gene in North African major histocompatibility complex class II-deficient patients belonging to complementation group B. ( 10803838 )
2000
24
Lessons from the bare lymphocyte syndrome: molecular mechanisms regulating MHC class II expression. ( 11213800 )
2000
25
Novel mutations within the RFX-B gene and partial rescue of MHC and related genes through exogenous class II transactivator in RFX-B-deficient cells. ( 10725724 )
2000
26
Molecular genetics of the Bare lymphocyte syndrome. ( 11258423 )
2000
27
Mutations in the bare lymphocyte syndrome define critical steps in the assembly of the regulatory factor X complex. ( 10825209 )
2000
28
Associations and interactions between bare lymphocyte syndrome factors. ( 10938133 )
2000
29
T cell immune reconstitution after allogeneic bone marrow transplantation in bare lymphocyte syndrome. ( 11053633 )
2000
30
Immunodeficiency due to defective antigen processing: the molecular basis for type 1 bare lymphocyte syndrome. ( 10074475 )
1999
31
Splice acceptor site mutation of the transporter associated with antigen processing-1 gene in human bare lymphocyte syndrome. ( 10074494 )
1999
32
RFX-B is the gene responsible for the most common cause of the bare lymphocyte syndrome, an MHC class II immunodeficiency. ( 10072068 )
1999
33
Molecular analysis of an MHC class II deficiency patient reveals a novel mutation in the RFX5 gene. ( 10079298 )
1999
34
A defect in the nuclear translocation of CIITA causes a form of type II bare lymphocyte syndrome. ( 10072069 )
1999
35
Incomplete T-cell immune reconstitution in two major histocompatibility complex class II-deficiency/bare lymphocyte syndrome patients after HLA-identical sibling bone marrow transplantation. ( 10381532 )
1999
36
The bare lymphocyte syndrome: molecular clues to the transcriptional regulation of major histocompatibility complex class II genes. ( 10417269 )
1999
37
Tolerance of NK and LAK activity for HLA class I-deficient targets in a TAP1-deficient patient (bare lymphocyte syndrome type I). ( 9952025 )
1999
38
A gene encoding a novel RFX-associated transactivator is mutated in the majority of MHC class II deficiency patients. ( 9806546 )
1998
39
Activity and phenotype of natural killer cells in peptide transporter (TAP)-deficient patients (type I bare lymphocyte syndrome). ( 9419217 )
1998
40
Two novel mutations in the MHC class II transactivator CIITA in a second patient from MHC class II deficiency complementation group A. ( 9099848 )
1997
41
RFXAP, a novel subunit of the RFX DNA binding complex is mutated in MHC class II deficiency. ( 9118943 )
1997
42
Specific complex formation between the type II bare lymphocyte syndrome-associated transactivators CIITA and RFX5. ( 9177217 )
1997
43
Transactivation by CIITA, the type II bare lymphocyte syndrome-associated factor, requires participation of multiple regions of the TATA box binding protein. ( 9177216 )
1997
44
Correction of defective expression in MHC class II deficiency (bare lymphocyte syndrome) cells by retroviral transduction of CIITA. ( 9233601 )
1997
45
Mutation of RFXAP, a regulator of MHC class II genes, in primary MHC class II deficiency. ( 9287230 )
1997
46
The case of the bare lymphocyte syndrome--tracking down faulty transcription factors. ( 9287236 )
1997
47
Regulatory factor X, a bare lymphocyte syndrome transcription factor, is a multimeric phosphoprotein complex. ( 9190936 )
1997
48
Analysis of mutations and chromosomal localisation of the gene encoding RFX5, a novel transcription factor affected in major histocompatibility complex class II deficiency. ( 9401005 )
1997
49
Type III bare lymphocyte syndrome: lack of HLA class II gene expression and reduction in HLA class I gene expression. ( 8952882 )
1996
50
Purified X2 binding protein (X2BP) cooperatively binds the class II MHC X box region in the presence of purified RFX, the X box factor deficient in the bare lymphocyte syndrome. ( 7594590 )
1995

Variations for Bare Lymphocyte Syndrome, Type Ii

UniProtKB/Swiss-Prot genetic disease variations for Bare Lymphocyte Syndrome, Type Ii:

76
# Symbol AA change Variation ID SNP ID
1 CIITA p.Leu469Pro VAR_015551
2 CIITA p.Phe962Ser VAR_015553
3 RFX5 p.Arg149Gln VAR_015550 rs137853099
4 RFXANK p.Leu195Pro VAR_009941 rs751386365

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

6 (show top 50) (show all 540)
# Gene Variation Type Significance SNP ID Assembly Location
1 RFXANK RFXANK, 26-BP DEL, NT752 deletion Pathogenic
2 RFXANK RFXANK, 58-BP DEL deletion Pathogenic
3 RFXANK RFXANK, IVS4DS, G-C, +1 single nucleotide variant Pathogenic
4 RFXANK NM_003721.3(RFXANK): c.362A> T (p.Asp121Val) single nucleotide variant Pathogenic rs104894709 GRCh37 Chromosome 19, 19308354: 19308354
5 RFXANK NM_003721.3(RFXANK): c.362A> T (p.Asp121Val) single nucleotide variant Pathogenic rs104894709 GRCh38 Chromosome 19, 19197545: 19197545
6 RFX5 RFX5, IVS2DS, G-A, +5 single nucleotide variant Pathogenic
7 RFX5 NM_000449.3(RFX5): c.1032C> T (p.Ile344=) single nucleotide variant Pathogenic GRCh38 Chromosome 1, 151343005: 151343005
8 RFX5 NM_000449.3(RFX5): c.1032C> T (p.Ile344=) single nucleotide variant Pathogenic GRCh37 Chromosome 1, 151315481: 151315481
9 RFX5 NM_000449.3(RFX5): c.234-1G> A single nucleotide variant Pathogenic GRCh37 Chromosome 1, 151317324: 151317324
10 RFX5 NM_000449.3(RFX5): c.234-1G> A single nucleotide variant Pathogenic GRCh38 Chromosome 1, 151344848: 151344848
11 RFX5 RFX5, 4-BP DEL, IVS-AS, G-A, -1 deletion Pathogenic
12 RFX5 NM_000449.3(RFX5): c.446G> A (p.Arg149Gln) single nucleotide variant Uncertain significance rs137853099 GRCh37 Chromosome 1, 151316920: 151316920
13 RFX5 NM_000449.3(RFX5): c.446G> A (p.Arg149Gln) single nucleotide variant Uncertain significance rs137853099 GRCh38 Chromosome 1, 151344444: 151344444
14 RFXAP RFXAP, 1-BP INS, 413G insertion Pathogenic
15 RFXAP RFXAP, 1-BP INS, 505G insertion Pathogenic
16 RFXAP RFXAP, 1-BP DEL, 484G deletion Pathogenic
17 RFXAP NM_000538.3(RFXAP): c.163C> T (p.Gln55Ter) single nucleotide variant Pathogenic rs137853098 GRCh37 Chromosome 13, 37393657: 37393657
18 RFXAP NM_000538.3(RFXAP): c.163C> T (p.Gln55Ter) single nucleotide variant Pathogenic rs137853098 GRCh38 Chromosome 13, 36819520: 36819520
19 CIITA MHC2TA, IVS13DS, G-A, +1 deletion Pathogenic
20 CIITA NM_000246.3(CIITA): c.1141G> T (p.Glu381Ter) single nucleotide variant Pathogenic rs137852602 GRCh37 Chromosome 16, 11000490: 11000490
21 CIITA NM_000246.3(CIITA): c.1141G> T (p.Glu381Ter) single nucleotide variant Pathogenic rs137852602 GRCh38 Chromosome 16, 10906633: 10906633
22 CIITA NM_000246.3(CIITA): c.3234_3317del84 single nucleotide variant Pathogenic rs771073292 GRCh38 Chromosome 16, 10922491: 10922491
23 CIITA NM_000246.3(CIITA): c.3234_3317del84 single nucleotide variant Pathogenic rs771073292 GRCh37 Chromosome 16, 11016348: 11016348
24 CIITA NM_000246.3(CIITA): c.2063G> A (p.Trp688Ter) single nucleotide variant Pathogenic rs863223293 GRCh38 Chromosome 16, 10907555: 10907555
25 CIITA NM_000246.3(CIITA): c.2063G> A (p.Trp688Ter) single nucleotide variant Pathogenic rs863223293 GRCh37 Chromosome 16, 11001412: 11001412
26 CIITA NM_000246.3(CIITA): c.2889_2969del81 (p.Gly965_Leu991del) deletion Pathogenic rs1555507411 GRCh37 Chromosome 16, 11009427: 11009507
27 CIITA NM_000246.3(CIITA): c.2889_2969del81 (p.Gly965_Leu991del) deletion Pathogenic rs1555507411 GRCh38 Chromosome 16, 10915570: 10915650
28 CIITA MHC2TA, 3-BP DEL, 3193CAT deletion Pathogenic
29 RFXANK NM_003721.3(RFXANK): c.706C> T (p.Arg236Trp) single nucleotide variant Uncertain significance rs143964319 GRCh37 Chromosome 19, 19310037: 19310037
30 RFXANK NM_003721.3(RFXANK): c.706C> T (p.Arg236Trp) single nucleotide variant Uncertain significance rs143964319 GRCh38 Chromosome 19, 19199228: 19199228
31 RFXANK NM_003721.3(RFXANK): c.706C> T (p.Arg236Trp) single nucleotide variant Uncertain significance rs143964319 NCBI36 Chromosome 19, 19171037: 19171037
32 CIITA NM_000246.3(CIITA): c.1230G> A (p.Pro410=) single nucleotide variant Uncertain significance rs199476069 GRCh37 Chromosome 16, 11000579: 11000579
33 CIITA NM_000246.3(CIITA): c.1230G> A (p.Pro410=) single nucleotide variant Uncertain significance rs199476069 GRCh38 Chromosome 16, 10906722: 10906722
34 CIITA NM_000246.3(CIITA): c.1684G> A (p.Ala562Thr) single nucleotide variant Uncertain significance rs199476070 GRCh37 Chromosome 16, 11001033: 11001033
35 CIITA NM_000246.3(CIITA): c.1684G> A (p.Ala562Thr) single nucleotide variant Uncertain significance rs199476070 GRCh38 Chromosome 16, 10907176: 10907176
36 CIITA NM_000246.3(CIITA): c.2356C> A (p.Gln786Lys) single nucleotide variant Uncertain significance rs199476072 GRCh37 Chromosome 16, 11001705: 11001705
37 CIITA NM_000246.3(CIITA): c.2356C> A (p.Gln786Lys) single nucleotide variant Uncertain significance rs199476072 GRCh38 Chromosome 16, 10907848: 10907848
38 RFXAP NM_000538.3(RFXAP): c.323T> A (p.Leu108Ter) single nucleotide variant Pathogenic rs754240018 GRCh38 Chromosome 13, 36819680: 36819680
39 RFXAP NM_000538.3(RFXAP): c.323T> A (p.Leu108Ter) single nucleotide variant Pathogenic rs754240018 GRCh37 Chromosome 13, 37393817: 37393817
40 RFXANK NM_003721.3(RFXANK): c.337+4C> T single nucleotide variant Benign/Likely benign rs187331767 GRCh38 Chromosome 19, 19197255: 19197255
41 RFXANK NM_003721.3(RFXANK): c.337+4C> T single nucleotide variant Benign/Likely benign rs187331767 GRCh37 Chromosome 19, 19308064: 19308064
42 RFX5 NM_000449.3(RFX5): c.*1520_*1521insATT insertion Uncertain significance rs529662057 GRCh37 Chromosome 1, 151313141: 151313142
43 RFX5 NM_000449.3(RFX5): c.*1520_*1521insATT insertion Uncertain significance rs529662057 GRCh38 Chromosome 1, 151340665: 151340666
44 RFX5 NM_000449.3(RFX5): c.*1084A> C single nucleotide variant Uncertain significance rs116826799 GRCh37 Chromosome 1, 151313578: 151313578
45 RFX5 NM_000449.3(RFX5): c.*1084A> C single nucleotide variant Uncertain significance rs116826799 GRCh38 Chromosome 1, 151341102: 151341102
46 RFX5 NM_000449.3(RFX5): c.*283A> G single nucleotide variant Benign rs1752387 GRCh38 Chromosome 1, 151341903: 151341903
47 RFX5 NM_000449.3(RFX5): c.*283A> G single nucleotide variant Benign rs1752387 GRCh37 Chromosome 1, 151314379: 151314379
48 RFX5 NM_000449.3(RFX5): c.*244A> G single nucleotide variant Likely benign rs2233857 GRCh38 Chromosome 1, 151341942: 151341942
49 RFX5 NM_000449.3(RFX5): c.*244A> G single nucleotide variant Likely benign rs2233857 GRCh37 Chromosome 1, 151314418: 151314418
50 RFX5 NM_000449.3(RFX5): c.1495C> T (p.Pro499Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs2233855 GRCh38 Chromosome 1, 151342542: 151342542

Expression for Bare Lymphocyte Syndrome, Type Ii

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

Pathways for Bare Lymphocyte Syndrome, Type Ii

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

(show all 13)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.66 CARD9 CIITA HLA-A HLA-DQA1 HLA-DRA TAP2
2
Show member pathways
12.96 CIITA HLA-A HLA-DQA1 HLA-DRA TRIM22
3
Show member pathways
12.5 CIITA HLA-A HLA-DQA1 HLA-DRA RFX5 RFXANK
4 12.2 CARD9 CIITA TAP2
5
Show member pathways
12.15 CIITA HLA-A HLA-DQA1 HLA-DRA TRIM22
6 11.99 HLA-A HLA-DQA1 HLA-DRA
7
Show member pathways
11.88 CIITA HLA-DQA1 HLA-DRA
8 11.8 HLA-A HLA-DQA1 HLA-DRA TAP2
9 11.71 HLA-A HLA-DQA1 HLA-DRA
10 11.42 CARD9 CIITA HLA-DQA1 HLA-DRA RFX5 RFXANK
11 11.33 HLA-DQA1 HLA-DRA
12 10.92 CIITA RFX5 RFXANK RFXAP TAP2
13 10.8 HLA-A TAP2

GO Terms for Bare Lymphocyte Syndrome, Type Ii

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

# Name GO ID Score Top Affiliating Genes
1 endocytic vesicle membrane GO:0030666 9.37 HLA-DQA1 HLA-DRA
2 transport vesicle membrane GO:0030658 9.32 HLA-DQA1 HLA-DRA
3 clathrin-coated endocytic vesicle membrane GO:0030669 9.26 HLA-DQA1 HLA-DRA
4 MHC class II protein complex GO:0042613 9.16 HLA-DQA1 HLA-DRA
5 ER to Golgi transport vesicle membrane GO:0012507 9.13 HLA-A HLA-DQA1 HLA-DRA
6 integral component of lumenal side of endoplasmic reticulum membrane GO:0071556 8.8 HLA-A HLA-DQA1 HLA-DRA

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

# Name GO ID Score Top Affiliating Genes
1 immune system process GO:0002376 9.65 CARD9 HLA-A HLA-DQA1 HLA-DRA TAP2
2 immune response GO:0006955 9.55 CIITA HLA-A HLA-DQA1 HLA-DRA TRIM22
3 antigen processing and presentation of peptide antigen via MHC class I GO:0002474 9.4 HLA-A TAP2
4 antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent GO:0002479 9.37 HLA-A TAP2
5 antigen processing and presentation of peptide or polysaccharide antigen via MHC class II GO:0002504 9.32 HLA-DQA1 HLA-DRA
6 antigen processing and presentation GO:0019882 9.13 HLA-A HLA-DQA1 HLA-DRA
7 interferon-gamma-mediated signaling pathway GO:0060333 9.02 CIITA HLA-A HLA-DQA1 HLA-DRA TRIM22

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

# Name GO ID Score Top Affiliating Genes
1 MHC class II receptor activity GO:0032395 8.96 HLA-DQA1 HLA-DRA
2 peptide antigen binding GO:0042605 8.8 HLA-A HLA-DQA1 HLA-DRA

Sources for Bare Lymphocyte Syndrome, Type Ii

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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