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BLS2
MCID: BRL012
MIFTS: 60

Bare Lymphocyte Syndrome, Type Ii (BLS2)

Categories: Blood diseases, Gastrointestinal diseases, Genetic diseases, Immune diseases, Rare diseases, Respiratory diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
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Aliases & Classifications for Bare Lymphocyte Syndrome, Type Ii

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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 recessive inheritance autosomal dominant inheritance


Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases
Anatomical: Immune diseases Gastrointestinal diseases Blood diseases Respiratory diseases
See all MalaCards categories (disease lists)
ICD10: 34 35
Orphanet: 60  
Rare gastroenterological diseases
Rare immunological diseases


Sources

Summaries for Bare Lymphocyte Syndrome, Type Ii

About this section
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 Fludarabine and Melphalan have been mentioned in the context of this disorder. Affiliated tissues include t cells, skin and liver, and related phenotypes are failure to thrive and encephalitis

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
Sources

Related Diseases for Bare Lymphocyte Syndrome, Type Ii

About this section

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 318)
# Related Disease Score Top Affiliating Genes
1 bare lymphocyte syndrome, type i 34.0 TAP2 RFXAP RFXANK RFX5
2 immunodeficiency 17 32.0 CARD9 DOCK8
3 combined t cell and b cell immunodeficiency 29.7 RFXAP RFX5 DOCK8 CIITA
4 severe combined immunodeficiency 29.6 CIITA RFX5 RFXANK RFXAP
5 rubella 29.4 HLA-A TRIM22
6 severe combined immunodeficiency, x-linked 13.0
7 severe combined immunodeficiency, autosomal recessive, t cell-negative, b cell-positive, nk cell-negative 12.9
8 severe combined immunodeficiency, autosomal recessive, t cell-negative, b cell-positive, nk cell-positive 12.9
9 severe combined immunodeficiency with sensitivity to ionizing radiation 12.9
10 severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation 12.7
11 severe combined immunodeficiency, autosomal recessive, t cell-negative, b cell-negative, nk cell-negative, due to adenosine deaminase deficiency 12.7
12 achondroplasia and severe combined immunodeficiency 12.6
13 zap70-related severe combined immunodeficiency 12.6
14 jak3-deficient severe combined immunodeficiency 12.6
15 short-limb skeletal dysplasia with severe combined immunodeficiency 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 severe combined immunodeficiency, atypical 12.3
19 reticular dysgenesis 12.3
20 adenosine deaminase deficiency 12.3
21 burkitt lymphoma 12.3
22 omenn syndrome 12.1
23 immunodeficiency 18 12.0
24 immunodeficiency 26 with or without neurologic abnormalities 11.9
25 immunodeficiency 19 11.9
26 immunodeficiency 49 11.8
27 immunodeficiency 52 11.8
28 immunodeficiency 8 11.7
29 immunodeficiency 22 11.7
30 immunodeficiency by defective expression of hla class 1 11.6
31 immunodeficiency 11 11.6
32 immunodeficiency 24 11.6
33 zap-70 deficiency 11.6
34 lig4 syndrome 11.4
35 bloom syndrome 11.4
36 immunodeficiency 9 11.2
37 blind loop syndrome 11.2
38 t-cell immunodeficiency, congenital alopecia, and nail dystrophy 11.1
39 janus kinase-3 deficiency 11.1
40 hypothyroidism, thyroidal or athyroidal, with spiky hair and cleft palate 11.1
41 gastrointestinal defects and immunodeficiency syndrome 11.0
42 purine nucleoside phosphorylase deficiency 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 coronin-1a deficiency 11.0
50 lymphoma 10.6

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



Diseases related to Bare Lymphocyte Syndrome, Type Ii
Sources

Symptoms & Phenotypes for Bare Lymphocyte Syndrome, Type Ii

About this section

Human phenotypes related to Bare Lymphocyte Syndrome, Type Ii:

33 (show all 21)
# Description HPO Frequency HPO Source Accession
1 failure to thrive 33 HP:0001508
2 encephalitis 33 HP:0002383
3 malabsorption 33 HP:0002024
4 recurrent upper respiratory tract infections 33 HP:0002788
5 neutropenia 33 HP:0001875
6 agammaglobulinemia 33 HP:0004432
7 recurrent urinary tract infections 33 HP:0000010
8 recurrent lower respiratory tract infections 33 HP:0002783
9 recurrent bacterial infections 33 HP:0002718
10 recurrent viral infections 33 HP:0004429
11 recurrent fungal infections 33 HP:0002841
12 viral hepatitis 33 HP:0006562
13 panhypogammaglobulinemia 33 HP:0003139
14 villous atrophy 33 HP:0011473
15 chronic mucocutaneous candidiasis 33 HP:0002728
16 colitis 33 HP:0002583
17 chronic lymphocytic meningitis 33 HP:0007041
18 protracted diarrhea 33 HP:0004385
19 cutaneous anergy 33 HP:0002965
20 cholangitis 33 HP:0030151
21 recurrent protozoan infections 33 HP:0005386

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
Sources

Drugs & Therapeutics for Bare Lymphocyte Syndrome, Type Ii

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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
Fludarabine Approved Phase 2,Not Applicable 75607-67-9, 21679-14-1 30751
2
Melphalan Approved Phase 2,Not Applicable 148-82-3 460612 4053
3
alemtuzumab Approved, Investigational Phase 2,Not Applicable 216503-57-0
4
Hydroxyurea Approved Phase 2 127-07-1 3657
5
Thiotepa Approved, Investigational Phase 2 52-24-4 5453
6 Antineoplastic Agents, Alkylating Phase 2,Not Applicable
7 Antimetabolites Phase 2,Not Applicable
8 Antineoplastic Agents, Immunological Phase 2,Not Applicable
9 Immunosuppressive Agents Phase 2,Not Applicable
10 Antimetabolites, Antineoplastic Phase 2,Not Applicable
11 Immunologic Factors Phase 2,Not Applicable
12 Nucleic Acid Synthesis Inhibitors Phase 2
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 6055-19-2, 50-18-0 2907
17
Mesna Approved, Investigational Not Applicable 3375-50-6 598
18 Protective Agents Not Applicable
19 Antirheumatic Agents Not Applicable
20 Anti-Infective 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

Sources

Genetic Tests for Bare Lymphocyte Syndrome, Type Ii

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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
Sources

Anatomical Context for Bare Lymphocyte Syndrome, Type Ii

About this section

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

42
T Cells, Skin, Liver, Testes, Bone, Bone Marrow, B Cells
Sources

Publications for Bare Lymphocyte Syndrome, Type Ii

About this section

Articles related to Bare Lymphocyte Syndrome, Type Ii:

(show top 50) (show all 62)
# Title Authors Year
1
Disseminated Bacillus Calmette-GuAcrin (BCG) infection following allogeneic hematopoietic stem cell transplant in a patient with Bare Lymphocyte Syndrome type II. ( 24995715 )
2014
2
Type II Bare Lymphocyte Syndrome: Role of Peripheral Blood Flow Cytometry and Utility of Stem Cell Transplant in Treatment. ( 25354255 )
2014
3
Newborn screening for severe combined immunodeficiency does not identify bare lymphocyte syndrome. ( 23453137 )
2013
4
Comments on type I bare lymphocyte syndrome. ( 22321372 )
2012
5
Type III bare lymphocyte syndrome associated with a novel RFXAP mutation: a case report. ( 22390233 )
2012
6
Bare lymphocyte syndrome: an opportunity to discover our immune system. ( 22027563 )
2012
7
A novel mutation in the TAP2 gene in bare lymphocyte syndrome: association with metastatic cutaneous squamous cell carcinoma. ( 20083708 )
2010
8
Complementation cloning of an MHC class II transactivator mutated in hereditary MHC class II deficiency (or bare lymphocyte syndrome). 1993. ( 17513710 )
2007
9
Conserved residues of the bare lymphocyte syndrome transcription factor RFXAP determine coordinate MHC class II expression. ( 16337482 )
2006
10
Evolutionary conservation and characterization of the bare lymphocyte syndrome transcription factor RFX-B and its paralogue ANKRA2. ( 15655668 )
2005
11
Mutation in a winged-helix DNA-binding motif causes atypical bare lymphocyte syndrome. ( 12368908 )
2002
12
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
13
The bare lymphocyte syndrome and the regulation of MHC expression. ( 11244040 )
2001
14
Effect of IFN-gamma on expression of HLA in bare-lymphocyte syndrome-like cell line HAJ. ( 11814240 )
2001
15
Prolonged survival of a bare lymphocyte syndrome type I patient with diffuse panbronchiolitis treated with erythromycin. ( 11587107 )
2001
16
Analysis of ankyrin repeats reveals how a single point mutation in RFXANK results in bare lymphocyte syndrome. ( 11463838 )
2001
17
Bare lymphocyte syndrome: imaging findings in an adult. ( 11372614 )
2001
18
Mutations in the bare lymphocyte syndrome define critical steps in the assembly of the regulatory factor X complex. ( 10825209 )
2000
19
Lessons from the bare lymphocyte syndrome: molecular mechanisms regulating MHC class II expression. ( 11213800 )
2000
20
Molecular genetics of the Bare lymphocyte syndrome. ( 11258423 )
2000
21
Associations and interactions between bare lymphocyte syndrome factors. ( 10938133 )
2000
22
T cell immune reconstitution after allogeneic bone marrow transplantation in bare lymphocyte syndrome. ( 11053633 )
2000
23
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
24
Immunodeficiency due to defective antigen processing: the molecular basis for type 1 bare lymphocyte syndrome. ( 10074475 )
1999
25
The bare lymphocyte syndrome: molecular clues to the transcriptional regulation of major histocompatibility complex class II genes. ( 10417269 )
1999
26
Splice acceptor site mutation of the transporter associated with antigen processing-1 gene in human bare lymphocyte syndrome. ( 10074494 )
1999
27
A defect in the nuclear translocation of CIITA causes a form of type II bare lymphocyte syndrome. ( 10072069 )
1999
28
Tolerance of NK and LAK activity for HLA class I-deficient targets in a TAP1-deficient patient (bare lymphocyte syndrome type I). ( 9952025 )
1999
29
RFX-B is the gene responsible for the most common cause of the bare lymphocyte syndrome, an MHC class II immunodeficiency. ( 10072068 )
1999
30
Activity and phenotype of natural killer cells in peptide transporter (TAP)-deficient patients (type I bare lymphocyte syndrome). ( 9419217 )
1998
31
Specific complex formation between the type II bare lymphocyte syndrome-associated transactivators CIITA and RFX5. ( 9177217 )
1997
32
The case of the bare lymphocyte syndrome--tracking down faulty transcription factors. ( 9287236 )
1997
33
Transactivation by CIITA, the type II bare lymphocyte syndrome-associated factor, requires participation of multiple regions of the TATA box binding protein. ( 9177216 )
1997
34
Correction of defective expression in MHC class II deficiency (bare lymphocyte syndrome) cells by retroviral transduction of CIITA. ( 9233601 )
1997
35
Regulatory factor X, a bare lymphocyte syndrome transcription factor, is a multimeric phosphoprotein complex. ( 9190936 )
1997
36
Type III bare lymphocyte syndrome: lack of HLA class II gene expression and reduction in HLA class I gene expression. ( 8952882 )
1996
37
A novel DNA-binding regulatory factor is mutated in primary MHC class II deficiency (bare lymphocyte syndrome). ( 7744245 )
1995
38
Deficient antigen-presenting cell function in multiple genetic complementation groups of type II bare lymphocyte syndrome. ( 7615790 )
1995
39
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
40
Bare lymphocyte syndrome with lack of HLA class I and II antigens. Presentation of two cases. ( 7597764 )
1995
41
Molecular defects in the bare lymphocyte syndrome and regulation of MHC class II genes. ( 7495492 )
1995
42
Coordinate defects in human histocompatibility leukocyte antigen class II expression and antigen presentation in bare lymphocyte syndrome. ( 8195723 )
1994
43
Lymphokine gene transcription in CD4+CD8- T cells of a type III bare lymphocyte syndrome patient. ( 8244777 )
1993
44
Complementation cloning of an MHC class II transactivator mutated in hereditary MHC class II deficiency (or bare lymphocyte syndrome). ( 8402893 )
1993
45
Analysis of MHC class II transcription in two type III bare lymphocyte syndrome patients of a single family. ( 8167718 )
1993
46
The bare lymphocyte syndrome. ( 1504670 )
1992
47
TCR V alpha- and V beta-gene segment use in T-cell subcultures derived from a type-III bare lymphocyte syndrome patient deficient in MHC class-II expression. ( 1320968 )
1992
48
In vivo footprinting of MHC class II genes: bare promoters in the bare lymphocyte syndrome. ( 1902592 )
1991
49
Differential inducibility of HLA class I and II antigens by r-IFN gamma in type III bare lymphocyte syndrome. ( 1899309 )
1991
50
Activation of CD8+ T cells by allogeneic class II-deficient B-cell lines derived from patients with bare lymphocyte syndrome. ( 2142838 )
1990
Sources

Variations for Bare Lymphocyte Syndrome, Type Ii

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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 536)
# Gene Variation Type Significance SNP ID Assembly Location
1 RFXAP NM_000538.3(RFXAP): c.323T> A (p.Leu108Ter) single nucleotide variant Pathogenic rs754240018 GRCh38 Chromosome 13, 36819680: 36819680
2 RFXAP NM_000538.3(RFXAP): c.323T> A (p.Leu108Ter) single nucleotide variant Pathogenic rs754240018 GRCh37 Chromosome 13, 37393817: 37393817
3 RFXANK RFXANK, 26-BP DEL, NT752 deletion Pathogenic
4 RFXANK RFXANK, 58-BP DEL deletion Pathogenic
5 RFXANK RFXANK, IVS4DS, G-C, +1 single nucleotide variant Pathogenic
6 RFXANK NM_003721.3(RFXANK): c.362A> T (p.Asp121Val) single nucleotide variant Pathogenic rs104894709 GRCh37 Chromosome 19, 19308354: 19308354
7 RFXANK NM_003721.3(RFXANK): c.362A> T (p.Asp121Val) single nucleotide variant Pathogenic rs104894709 GRCh38 Chromosome 19, 19197545: 19197545
8 RFX5 RFX5, IVS2DS, G-A, +5 single nucleotide variant Pathogenic
9 RFX5 NM_000449.3(RFX5): c.1032C> T (p.Ile344=) single nucleotide variant Pathogenic GRCh38 Chromosome 1, 151343005: 151343005
10 RFX5 NM_000449.3(RFX5): c.1032C> T (p.Ile344=) single nucleotide variant Pathogenic GRCh37 Chromosome 1, 151315481: 151315481
11 RFX5 NM_000449.3(RFX5): c.234-1G> A single nucleotide variant Pathogenic GRCh37 Chromosome 1, 151317324: 151317324
12 RFX5 NM_000449.3(RFX5): c.234-1G> A single nucleotide variant Pathogenic GRCh38 Chromosome 1, 151344848: 151344848
13 RFX5 RFX5, 4-BP DEL, IVS-AS, G-A, -1 deletion Pathogenic
14 RFX5 NM_000449.3(RFX5): c.446G> A (p.Arg149Gln) single nucleotide variant Uncertain significance rs137853099 GRCh37 Chromosome 1, 151316920: 151316920
15 RFX5 NM_000449.3(RFX5): c.446G> A (p.Arg149Gln) single nucleotide variant Uncertain significance rs137853099 GRCh38 Chromosome 1, 151344444: 151344444
16 RFXAP RFXAP, 1-BP INS, 413G insertion Pathogenic
17 RFXAP RFXAP, 1-BP INS, 505G insertion Pathogenic
18 RFXAP RFXAP, 1-BP DEL, 484G deletion Pathogenic
19 RFXAP NM_000538.3(RFXAP): c.163C> T (p.Gln55Ter) single nucleotide variant Pathogenic rs137853098 GRCh37 Chromosome 13, 37393657: 37393657
20 RFXAP NM_000538.3(RFXAP): c.163C> T (p.Gln55Ter) single nucleotide variant Pathogenic rs137853098 GRCh38 Chromosome 13, 36819520: 36819520
21 CIITA MHC2TA, IVS13DS, G-A, +1 deletion Pathogenic
22 CIITA NM_000246.3(CIITA): c.1141G> T (p.Glu381Ter) single nucleotide variant Pathogenic rs137852602 GRCh37 Chromosome 16, 11000490: 11000490
23 CIITA NM_000246.3(CIITA): c.1141G> T (p.Glu381Ter) single nucleotide variant Pathogenic rs137852602 GRCh38 Chromosome 16, 10906633: 10906633
24 CIITA NM_000246.3(CIITA): c.3234_3317del84 single nucleotide variant Pathogenic rs771073292 GRCh38 Chromosome 16, 10922491: 10922491
25 CIITA NM_000246.3(CIITA): c.3234_3317del84 single nucleotide variant Pathogenic rs771073292 GRCh37 Chromosome 16, 11016348: 11016348
26 CIITA NM_000246.3(CIITA): c.2063G> A (p.Trp688Ter) single nucleotide variant Pathogenic rs863223293 GRCh38 Chromosome 16, 10907555: 10907555
27 CIITA NM_000246.3(CIITA): c.2063G> A (p.Trp688Ter) single nucleotide variant Pathogenic rs863223293 GRCh37 Chromosome 16, 11001412: 11001412
28 CIITA NM_000246.3(CIITA): c.2889_2969del81 (p.Gly965_Leu991del) deletion Pathogenic rs1555507411 GRCh37 Chromosome 16, 11009427: 11009507
29 CIITA NM_000246.3(CIITA): c.2889_2969del81 (p.Gly965_Leu991del) deletion Pathogenic rs1555507411 GRCh38 Chromosome 16, 10915570: 10915650
30 CIITA MHC2TA, 3-BP DEL, 3193CAT deletion Pathogenic
31 RFXANK NM_003721.3(RFXANK): c.706C> T (p.Arg236Trp) single nucleotide variant Uncertain significance rs143964319 GRCh37 Chromosome 19, 19310037: 19310037
32 RFXANK NM_003721.3(RFXANK): c.706C> T (p.Arg236Trp) single nucleotide variant Uncertain significance rs143964319 GRCh38 Chromosome 19, 19199228: 19199228
33 RFXANK NM_003721.3(RFXANK): c.706C> T (p.Arg236Trp) single nucleotide variant Uncertain significance rs143964319 NCBI36 Chromosome 19, 19171037: 19171037
34 CIITA NM_000246.3(CIITA): c.1230G> A (p.Pro410=) single nucleotide variant Uncertain significance rs199476069 GRCh37 Chromosome 16, 11000579: 11000579
35 CIITA NM_000246.3(CIITA): c.1230G> A (p.Pro410=) single nucleotide variant Uncertain significance rs199476069 GRCh38 Chromosome 16, 10906722: 10906722
36 CIITA NM_000246.3(CIITA): c.1684G> A (p.Ala562Thr) single nucleotide variant Uncertain significance rs199476070 GRCh37 Chromosome 16, 11001033: 11001033
37 CIITA NM_000246.3(CIITA): c.1684G> A (p.Ala562Thr) single nucleotide variant Uncertain significance rs199476070 GRCh38 Chromosome 16, 10907176: 10907176
38 CIITA NM_000246.3(CIITA): c.2356C> A (p.Gln786Lys) single nucleotide variant Uncertain significance rs199476072 GRCh37 Chromosome 16, 11001705: 11001705
39 CIITA NM_000246.3(CIITA): c.2356C> A (p.Gln786Lys) single nucleotide variant Uncertain significance rs199476072 GRCh38 Chromosome 16, 10907848: 10907848
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 GRCh38 Chromosome 1, 151340665: 151340666
43 RFX5 NM_000449.3(RFX5): c.*1520_*1521insATT insertion Uncertain significance rs529662057 GRCh37 Chromosome 1, 151313141: 151313142
44 RFX5 NM_000449.3(RFX5): c.*1084A> C single nucleotide variant Uncertain significance rs116826799 GRCh38 Chromosome 1, 151341102: 151341102
45 RFX5 NM_000449.3(RFX5): c.*1084A> C single nucleotide variant Uncertain significance rs116826799 GRCh37 Chromosome 1, 151313578: 151313578
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
Sources

Expression for Bare Lymphocyte Syndrome, Type Ii

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

Pathways for Bare Lymphocyte Syndrome, Type Ii

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

(show all 14)
# Super pathways Score Top Affiliating Genes
1
Innate Immune System 67
Show member pathways
 13.67 CARD9 CIITA HLA-A HLA-DQA1 HLA-DRA TAP2
2
Cytokine Signaling in Immune system 67
Show member pathways
 12.98 CIITA HLA-A HLA-DQA1 HLA-DRA TRIM22
3
Allograft rejection 1 38
Show member pathways
 12.5 CIITA HLA-A HLA-DQA1 HLA-DRA RFX5 RFXANK
4
Influenza A 38
Show member pathways
 12.25 CIITA HLA-A HLA-DQA1 HLA-DRA TAP2
5
NF-kappaB Signaling 4
12.21 CARD9 CIITA TAP2
6
Interferon gamma signaling 67
Show member pathways
 12.15 CIITA HLA-A HLA-DQA1 HLA-DRA TRIM22
7
Human T-cell leukemia virus 1 infection 38
12.01 HLA-A HLA-DQA1 HLA-DRA
8
Toxoplasmosis 38
Show member pathways
 11.9 CIITA HLA-DQA1 HLA-DRA
9
Phagosome 38
11.8 HLA-A HLA-DQA1 HLA-DRA TAP2
10
Cell adhesion molecules (CAMs) 38
11.74 HLA-A HLA-DQA1 HLA-DRA
11
Tuberculosis 38
11.42 CARD9 CIITA HLA-DQA1 HLA-DRA RFX5 RFXANK
12
Staphylococcus aureus infection 38
11.34 HLA-DQA1 HLA-DRA
13
Primary immunodeficiency 38
10.92 CIITA RFX5 RFXANK RFXAP TAP2
14
Antigen Presentation- Folding, assembly and peptide loading of class I MHC 67
10.83 HLA-A TAP2
Sources

GO Terms for Bare Lymphocyte Syndrome, Type Ii

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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

Sources for Bare Lymphocyte Syndrome, Type Ii

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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
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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