MCID: BRL007
MIFTS: 42

Bare Lymphocyte Syndrome, Type Ii, Complementation Group C

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

Aliases & Classifications for Bare Lymphocyte Syndrome, Type Ii, Complementation Group C

MalaCards integrated aliases for Bare Lymphocyte Syndrome, Type Ii, Complementation Group C:

Name: Bare Lymphocyte Syndrome, Type Ii, Complementation Group C 54 29
Bare Lymphocyte Syndrome, Type Ii, Complementation Group D 54 24 29
Bare Lymphocyte Syndrome, Type Ii, Complementation Group a 54 24 13
Bare Lymphocyte Syndrome 50 52 69
Bare Lymphocyte Syndrome, Type Ii, Complementation Group E 54 24
Major Histocompatibility Complex Class Ii Deficiency 71 69
Mhc Class Ii Deficiency, Complementation Group B 54 24
Bare Lymphocyte Syndrome 2 71 69
Hla Class 1 Deficiency 50 69
Bare Lymphocyte Syndrome, Type Ii, Complementation Group B 29
Bare Lymphocyte Syndrome Type Ii Complementation Group a 71
Bare Lymphocyte Syndrome Type Ii Complementation Group B 71
Bare Lymphocyte Syndrome Type Ii Complementation Group C 71
Bare Lymphocyte Syndrome Type Ii Complementation Group D 71
Bare Lymphocyte Syndrome Type Ii Complementation Group E 71
Bare Lymphocyte Syndrome Type 2, Complementation Group a 29
Bare Lymphocyte Syndrome Type 2, Complementation Group E 29
Immunodeficiency by Defective Expression of Hla Class 2 56
Severe Combined Immunodeficiency Hla Class Ii-Negative 71
Hla Class 2-Negative Severe Combined Immunodeficiency 56
Hla Class Ii Deficient Combined Immunodeficiency 71
Hereditary Mhc Class Ii Deficiency 71
Bare Lymphocyte Syndrome Type Ii 71
Bare Lymphocyte Syndrome Type 2 56
Scid Hla Class Ii-Negative 71
Mhc-Ii Deficiency 71
Bls Type Ii 71
Bls Type 1 50
Bls Ii 71
Bls2 71

Characteristics:

Orphanet epidemiological data:

56
immunodeficiency by defective expression of hla class 2
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

54
Inheritance:
autosomal recessive

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


HPO:

32
bare lymphocyte syndrome, type ii, complementation group c:
Inheritance autosomal recessive inheritance autosomal dominant inheritance


Classifications:



Summaries for Bare Lymphocyte Syndrome, Type Ii, Complementation Group C

Genetics Home Reference : 25 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.

MalaCards based summary : Bare Lymphocyte Syndrome, Type Ii, Complementation Group C, also known as bare lymphocyte syndrome, type ii, complementation group d, is related to bare lymphocyte syndrome, type i and mhc class ii deficiency, and has symptoms including failure to thrive, neutropenia and recurrent urinary tract infections. An important gene associated with Bare Lymphocyte Syndrome, Type Ii, Complementation Group C is RFX5 (Regulatory Factor X5), and among its related pathways/superpathways are Influenza A and Allograft rejection. Affiliated tissues include t cells, testes and liver.

UniProtKB/Swiss-Prot : 71 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.

Description from OMIM: 209920

Related Diseases for Bare Lymphocyte Syndrome, Type Ii, Complementation Group C

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



Diseases related to Bare Lymphocyte Syndrome, Type Ii, Complementation Group C

Symptoms & Phenotypes for Bare Lymphocyte Syndrome, Type Ii, Complementation Group C

Symptoms via clinical synopsis from OMIM:

54

Growth- Other:
failure to thrive

Genitourinary:
recurrent urinary tract infections

Abdomen- Liver:
progressive liver disease
viral hepatitis

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

Neurologic- Central Nervous System:
meningoencephalitis
chronic lymphocytic meningitis
poliomyelitis

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

Hematology:
neutropenia
severe autoimmune cytopenia

Respiratory- Airways:
upper respiratory tract infections
lower respiratory tract infections

Abdomen- Biliary Tract:
pseudosclerosing cholangitis
bacterial cholangitis

Skin Nails & Hair- Skin:
mucocutaneous candidiasis

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

Human phenotypes related to Bare Lymphocyte Syndrome, Type Ii, Complementation Group C:

32 (show all 21)
id Description HPO Frequency HPO Source Accession
1 failure to thrive 32 HP:0001508
2 neutropenia 32 HP:0001875
3 recurrent urinary tract infections 32 HP:0000010
4 encephalitis 32 HP:0002383
5 viral hepatitis 32 HP:0006562
6 protracted diarrhea 32 HP:0004385
7 malabsorption 32 HP:0002024
8 chronic lymphocytic meningitis 32 HP:0007041
9 recurrent bacterial infections 32 HP:0002718
10 villous atrophy 32 HP:0011473
11 recurrent viral infections 32 HP:0004429
12 panhypogammaglobulinemia 32 HP:0003139
13 colitis 32 HP:0002583
14 agammaglobulinemia 32 HP:0004432
15 recurrent upper respiratory tract infections 32 HP:0002788
16 recurrent fungal infections 32 HP:0002841
17 chronic mucocutaneous candidiasis 32 HP:0002728
18 biliary tract abnormality 32 HP:0001080
19 recurrent lower respiratory tract infections 32 HP:0002783
20 cutaneous anergy 32 HP:0002965
21 recurrent protozoan infections 32 HP:0005386

Drugs & Therapeutics for Bare Lymphocyte Syndrome, Type Ii, Complementation Group C

Search Clinical Trials , NIH Clinical Center for Bare Lymphocyte Syndrome, Type Ii, Complementation Group C

Genetic Tests for Bare Lymphocyte Syndrome, Type Ii, Complementation Group C

Genetic tests related to Bare Lymphocyte Syndrome, Type Ii, Complementation Group C:

id Genetic test Affiliating Genes
1 Bare Lymphocyte Syndrome Type 2, Complementation Group a 29
2 Bare Lymphocyte Syndrome, Type Ii, Complementation Group D 29 24 RFXAP
3 Bare Lymphocyte Syndrome, Type Ii, Complementation Group C 29
4 Bare Lymphocyte Syndrome Type 2, Complementation Group E 29
5 Bare Lymphocyte Syndrome, Type Ii, Complementation Group B 29
6 Mhc Class Ii Deficiency, Complementation Group B 24 RFXANK
7 Bare Lymphocyte Syndrome, Type Ii, Complementation Group E 24 RFX5
8 Bare Lymphocyte Syndrome, Type Ii, Complementation Group a 24 CIITA

Anatomical Context for Bare Lymphocyte Syndrome, Type Ii, Complementation Group C

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

39
T Cells, Testes, Liver, Skin

Publications for Bare Lymphocyte Syndrome, Type Ii, Complementation Group C

Variations for Bare Lymphocyte Syndrome, Type Ii, Complementation Group C

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

71
id 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, Complementation Group C:

6 (show all 20)
id 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 RFX5 RFX5, IVS2DS, G-A, +5 single nucleotide variant Pathogenic
6 RFX5 RFX5, 1032C-T single nucleotide variant Pathogenic
7 RFX5 RFX5, IVS4AS, G-A, -1 single nucleotide variant Pathogenic
8 RFX5 RFX5, 4-BP DEL, IVS-AS, G-A, -1 deletion Pathogenic
9 RFX5 NM_000449.3(RFX5): c.446G> A (p.Arg149Gln) single nucleotide variant Pathogenic rs137853099 GRCh37 Chromosome 1, 151316920: 151316920
10 RFXAP RFXAP, 1-BP INS, 413G insertion Pathogenic
11 RFXAP RFXAP, 1-BP INS, 505G insertion Pathogenic
12 RFXAP RFXAP, 1-BP DEL, 484G deletion Pathogenic
13 RFXAP NM_000538.3(RFXAP): c.163C> T (p.Gln55Ter) single nucleotide variant Pathogenic rs137853098 GRCh37 Chromosome 13, 37393657: 37393657
14 CIITA MHC2TA, IVS13DS, G-A, +1 deletion Pathogenic
15 CIITA NM_000246.3(CIITA): c.1141G> T (p.Glu381Ter) single nucleotide variant Pathogenic rs137852602 GRCh37 Chromosome 16, 11000490: 11000490
16 CIITA NM_000246.3(CIITA): c.3234_3317del84 single nucleotide variant Pathogenic rs771073292 GRCh38 Chromosome 16, 10922491: 10922491
17 CIITA NM_000246.3(CIITA): c.2063G> A (p.Trp688Ter) single nucleotide variant Pathogenic rs863223293 GRCh38 Chromosome 16, 10907555: 10907555
18 CIITA NM_000246.3(CIITA): c.2889_2969del81 (p.Gly965_Leu991del) deletion Pathogenic
19 CIITA MHC2TA, 3-BP DEL, 3193CAT deletion Pathogenic
20 RFXAP NM_000538.3(RFXAP): c.323T> A (p.Leu108Ter) single nucleotide variant Pathogenic rs754240018 GRCh38 Chromosome 13, 36819680: 36819680

Expression for Bare Lymphocyte Syndrome, Type Ii, Complementation Group C

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

Pathways for Bare Lymphocyte Syndrome, Type Ii, Complementation Group C

GO Terms for Bare Lymphocyte Syndrome, Type Ii, Complementation Group C

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

id Name GO ID Score Top Affiliating Genes
1 phagocytic vesicle membrane GO:0030670 8.96 HLA-A TAP2
2 nuclear speck GO:0016607 8.8 RFXAP TAP2 TRIM22

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

id Name GO ID Score Top Affiliating Genes
1 regulation of transcription, DNA-templated GO:0006355 9.83 CIITA RFX1 RFX5 RFXANK TRIM22
2 transcription, DNA-templated GO:0006351 9.77 CIITA RFX1 RFX5 RFXANK TRIM22
3 regulation of transcription from RNA polymerase II promoter GO:0006357 9.58 RFX1 RFX5 RFXANK
4 viral process GO:0016032 9.5 HLA-A TAP2 TRIM22
5 antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent GO:0002479 9.26 HLA-A TAP2
6 immune response GO:0006955 9.26 CIITA HLA-A RFX1 TRIM22
7 antigen processing and presentation of peptide antigen via MHC class I GO:0002474 9.16 HLA-A TAP2
8 interferon-gamma-mediated signaling pathway GO:0060333 8.8 CIITA HLA-A TRIM22

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

id Name GO ID Score Top Affiliating Genes
1 DNA binding GO:0003677 9.35 CIITA RFX1 RFX5 RFXANK RFXAP
2 transcription factor activity, sequence-specific DNA binding GO:0003700 8.92 RFX5 RFXANK RFXAP TRIM22

Sources for Bare Lymphocyte Syndrome, Type Ii, Complementation Group C

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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