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BLS2
MCID: BRL012
MIFTS: 65

Bare Lymphocyte Syndrome, Type Ii (BLS2)

Categories: Blood diseases, Gastrointestinal diseases, Genetic diseases, Immune diseases, Infectious diseases, Rare diseases, Respiratory diseases, Skin 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 57
Bare Lymphocyte Syndrome 2 74 20 73 29 6 71
Bare Lymphocyte Syndrome 57 74 20 54 71
Major Histocompatibility Complex Class Ii Deficiency 43 73 71 32
Mhc Class Ii Deficiency 12 43 58 15
Bare Lymphocyte Syndrome, Type Ii, Complementation Group C 57 29 6
Severe Combined Immunodeficiency, Hla Class Ii-Negative 57 20 43
Bare Lymphocyte Syndrome Type Ii 12 43 73
Bare Lymphocyte Syndrome Type 2 20 43 58
Bare Lymphocyte Syndrome, Type Ii, Complementation Group D 57 6
Bare Lymphocyte Syndrome, Type Ii, Complementation Group a 57 13
Bare Lymphocyte Syndrome Type 2, Complementation Group a 29 6
Scid Due to Absent Class Ii Hla Antigens 12 39
Severe Combined Immunodeficiency 44 71
Scid, Hla Class Ii-Negative 57 43
Scid, Hla Class 2-Negative 20 43
Hla Class 1 Deficiency 20 71
Bls Type Ii 43 73
Severe Combined Immunodeficiency Due to Absent Class Ii Human Leukocyte Antigens 43
Bare Lymphocyte Syndrome, Type Ii, Complementation Group E 57
Bare Lymphocyte Syndrome, Type Ii, Complementation Group B 6
Immunodeficiency by Defective Expression of Mhc Class Ii 58
Bare Lymphocyte Syndrome Type Ii Complementation Group a 73
Bare Lymphocyte Syndrome Type Ii Complementation Group B 73
Bare Lymphocyte Syndrome Type Ii Complementation Group C 73
Bare Lymphocyte Syndrome Type Ii Complementation Group D 73
Bare Lymphocyte Syndrome Type Ii Complementation Group E 73
Bare Lymphocyte Syndrome Type 2, Complementation Group E 6
Severe Combined Immunodeficiency Hla Class Ii-Negative 73
Mhc Class Ii Deficiency, Complementation Group B 57
Hla Class Ii Deficient Combined Immunodeficiency 73
Scid Due to Absence of Class Ii Hla Antigens 43
Hereditary Mhc Class Ii Deficiency 73
Bare Lymphocyte Syndrome; Bls 57
Scid Hla Class Ii-Negative 73
Mhc-Ii Deficiency 73
Bls, Type Ii 57
Bls Type 1 20
Bls Ii 73
Blsii 12
Bls 2 20
Bls2 73
Bls 57

Characteristics:

Orphanet epidemiological data:

58
immunodeficiency by defective expression of mhc class ii
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM®:

57 (Updated 05-Mar-2021)
Inheritance:
autosomal recessive

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


HPO:

31
bare lymphocyte syndrome, type ii:
Inheritance autosomal recessive inheritance


Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Infectious diseases
Anatomical: Immune diseases Gastrointestinal diseases Blood diseases Skin diseases Respiratory diseases
See all MalaCards categories (disease lists)
ICD10: 32 33
Orphanet: 58  
Rare gastroenterological diseases
Rare immunological diseases


Sources

Summaries for Bare Lymphocyte Syndrome, Type Ii

About this section
MedlinePlus Genetics : 43 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.BLS II is typically diagnosed in the first year of life. Most affected infants have persistent infections in the respiratory, gastrointestinal, and urinary tracts. Because of the infections, affected infants have difficulty absorbing nutrients (malabsorption), and they grow more slowly than their peers. Eventually, the persistent infections lead to organ failure. Without treatment, individuals with BLS II usually do not survive past early childhood.In people with BLS II, infection-fighting white blood cells (lymphocytes) are missing specialized proteins on their surface called major histocompatibility complex (MHC) class II proteins, which is where the condition got its name. Because BLS II is the most common and best studied form of a group of related conditions, it is often referred to as simply bare lymphocyte syndrome (BLS).

MalaCards based summary : Bare Lymphocyte Syndrome, Type Ii, also known as bare lymphocyte syndrome 2, is related to severe combined immunodeficiency with sensitivity to ionizing radiation and adenosine deaminase deficiency. 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 Allograft rejection and NF-kappaB Signaling. The drugs Adenosine and Immunoglobulin G have been mentioned in the context of this disorder. Affiliated tissues include bone, bone marrow and t cells, and related phenotypes are reduced mhc ii surface expression and recurrent respiratory infections

Disease Ontology : 12 A severe combined immunodeficiency that is characterized by deficiency of MHC class II molecules that causes lack of immune protection against bacteria, viruses, and fungi and thus causes early death in childhood, and has material basis in autosomal recessive inheritance of mutation in the CIITA, RFX5, RFXANK, and RFXAP genes.

GARD : 20 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 572DefinitionA 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.

UniProtKB/Swiss-Prot : 73 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 : 74 Bare lymphocyte syndrome type II (BLS II) is a rare recessive genetic condition in which a group of... more...

More information from OMIM: 209920
Sources

Related Diseases for Bare Lymphocyte Syndrome, Type Ii

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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 535)
# Related Disease Score Top Affiliating Genes
1 severe combined immunodeficiency with sensitivity to ionizing radiation 33.1 RAG1 NHEJ1 LIG4 DCLRE1C
2 adenosine deaminase deficiency 33.0 RAG1 IL2RG CD4 AK2
3 reticular dysgenesis 32.7 NHEJ1 IL2RG DCLRE1C AK2
4 janus kinase-3 deficiency 32.0 LIG4 IL2RG
5 coronin-1a deficiency 31.9 DOCK8 DCLRE1C AK2
6 lig4 syndrome 31.8 RAG1 NHEJ1 LIG4 DCLRE1C
7 chronic mucocutaneous candidiasis 31.7 DOCK8 CD8A CD4
8 purine nucleoside phosphorylase deficiency 31.5 ZAP70 RFXANK RAG1 NHEJ1 DCLRE1C AK2
9 omenn syndrome 31.4 ZAP70 RFXANK RAG1 NHEJ1 LIG4 IL2RG
10 chickenpox 30.8 DOCK8 CD8A CD4
11 anemia, autoimmune hemolytic 30.6 ZAP70 CD8A CD4
12 agammaglobulinemia, x-linked 30.6 ZAP70 RAG1 CD4
13 immunodeficiency 41 with lymphoproliferation and autoimmunity 30.5 IL2RG DOCK8 CD8A CD4
14 digeorge syndrome 30.3 RAG1 IL2RG DOCK8 DCLRE1C CD8A CD4
15 epidermodysplasia verruciformis 1 30.3 DOCK8 CD8A CD4
16 human immunodeficiency virus type 1 30.3 TRIM22 HLA-A CIITA CD4
17 cerebral lymphoma 30.3 CD8A CD4
18 t cell deficiency 30.2 ZAP70 RAG1 IL2RG DOCK8 CD8A CD4
19 alveolar echinococcosis 30.2 TAP2 HLA-A CD8A
20 granulomatous dermatitis 30.2 CD8A CD4
21 cytomegalovirus retinitis 30.2 HLA-A CD8A CD4
22 progressive multifocal leukoencephalopathy 30.2 RAG1 CD8A CD4
23 bare lymphocyte syndrome, type i 30.1 TAP2 RFXAP RFXANK RFX5 DOCK8 CIITA
24 severe combined immunodeficiency 29.7 ZAP70 RFXAP RFXANK RFX5 RAG1 NHEJ1
25 cd40 ligand deficiency 29.6 ZAP70 IL2RG DOCK8 DCLRE1C CD8A CD4
26 immune deficiency disease 29.4 ZAP70 RFXAP RFXANK RFX5 RAG1 LIG4
27 combined immunodeficiency 29.3 ZAP70 RFXAP RFXANK RFX5 RAG1 NHEJ1
28 severe combined immunodeficiency, x-linked 12.1
29 severe combined immunodeficiency, autosomal recessive, t cell-negative, b cell-positive, nk cell-negative 12.0
30 severe combined immunodeficiency, autosomal recessive, t cell-negative, b cell-positive, nk cell-positive 11.9
31 severe combined immunodeficiency, autosomal recessive, t cell-negative, b cell-negative, nk cell-negative, due to adenosine deaminase deficiency 11.9
32 severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation 11.8
33 short-limb skeletal dysplasia with severe combined immunodeficiency 11.8
34 t-b- severe combined immunodeficiency 11.7
35 t-cell immunodeficiency, congenital alopecia, and nail dystrophy 11.7
36 immunodeficiency 22 11.7
37 zap70-related severe combined immunodeficiency 11.7
38 immunodeficiency 19 11.7
39 jak3-deficient severe combined immunodeficiency 11.6
40 immunodeficiency 18 11.6
41 immunodeficiency by defective expression of mhc class i 11.6
42 immunodeficiency 49 11.6
43 immunodeficiency 52 11.6
44 immunodeficiency 11 11.5
45 immunodeficiency 24 11.5
46 immunodeficiency 58 11.5
47 immunodeficiency 26 with or without neurologic abnormalities 11.5
48 immunodeficiency 26 11.4
49 severe combined immunodeficiency, atypical 11.4
50 immunodeficiency 8 11.4

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

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Human phenotypes related to Bare Lymphocyte Syndrome, Type Ii:

58 31 (show top 50) (show all 51)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 reduced mhc ii surface expression 58 31 obligate (100%) Obligate (100%) HP:0031390
2 recurrent respiratory infections 58 31 hallmark (90%) Very frequent (99-80%) HP:0002205
3 recurrent infection of the gastrointestinal tract 58 31 hallmark (90%) Very frequent (99-80%) HP:0004798
4 lack of t cell function 58 31 hallmark (90%) Very frequent (99-80%) HP:0005354
5 failure to thrive 58 31 frequent (33%) Frequent (79-30%) HP:0001508
6 sinusitis 58 31 frequent (33%) Frequent (79-30%) HP:0000246
7 recurrent staphylococcus aureus infections 58 31 frequent (33%) Frequent (79-30%) HP:0002726
8 chronic mucocutaneous candidiasis 58 31 frequent (33%) Frequent (79-30%) HP:0002728
9 rhinitis 58 31 frequent (33%) Frequent (79-30%) HP:0012384
10 recurrent candida infections 58 31 frequent (33%) Frequent (79-30%) HP:0005401
11 recurrent herpes 58 31 frequent (33%) Frequent (79-30%) HP:0005353
12 protracted diarrhea 58 31 frequent (33%) Frequent (79-30%) HP:0004385
13 sclerosing cholangitis 58 31 frequent (33%) Frequent (79-30%) HP:0030991
14 recurrent protozoan infections 58 31 frequent (33%) Frequent (79-30%) HP:0005386
15 decreased circulating beta-2-microglobulin level 58 31 frequent (33%) Frequent (79-30%) HP:0025347
16 chronic hepatitis due to cryptosporidium infection 58 31 frequent (33%) Frequent (79-30%) HP:0200124
17 decreased proportion of cd4-positive helper t cells 31 frequent (33%) HP:0005407
18 skin rash 58 31 occasional (7.5%) Occasional (29-5%) HP:0000988
19 pancytopenia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001876
20 autoimmune hemolytic anemia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001890
21 autoimmune thrombocytopenia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001973
22 neutropenia in presence of anti-neutropil antibodies 58 31 occasional (7.5%) Occasional (29-5%) HP:0001904
23 panhypogammaglobulinemia 58 31 occasional (7.5%) Occasional (29-5%) HP:0003139
24 decreased lymphocyte proliferation in response to mitogen 58 31 occasional (7.5%) Occasional (29-5%) HP:0031381
25 acute otitis media 58 31 occasional (7.5%) Occasional (29-5%) HP:0000371
26 abnormal cd4:cd8 ratio 58 31 occasional (7.5%) Occasional (29-5%) HP:0031394
27 dysarthria 58 31 very rare (1%) Very rare (<4-1%) HP:0001260
28 abnormal facial shape 58 31 very rare (1%) Very rare (<4-1%) HP:0001999
29 gait ataxia 58 31 very rare (1%) Very rare (<4-1%) HP:0002066
30 neutropenia 58 31 Occasional (29-5%) HP:0001875
31 recurrent bacterial infections 58 31 Frequent (79-30%) HP:0002718
32 recurrent fungal infections 58 31 Frequent (79-30%) HP:0002841
33 recurrent viral infections 58 31 Frequent (79-30%) HP:0004429
34 encephalitis 31 HP:0002383
35 malabsorption 31 HP:0002024
36 recurrent upper respiratory tract infections 31 HP:0002788
37 autoimmunity 58 Occasional (29-5%)
38 decreased antibody level in blood 58 Frequent (79-30%)
39 recurrent urinary tract infections 31 HP:0000010
40 agammaglobulinemia 31 HP:0004432
41 diarrhea 58 Frequent (79-30%)
42 abnormality of humoral immunity 58 Frequent (79-30%)
43 colitis 31 HP:0002583
44 viral hepatitis 31 HP:0006562
45 villous atrophy 31 HP:0011473
46 decrease in t cell count 58 Occasional (29-5%)
47 recurrent lower respiratory tract infections 31 HP:0002783
48 decreased proportion of cd4-positive t cells 58 Frequent (79-30%)
49 chronic lymphocytic meningitis 31 HP:0007041
50 cholangitis 31 HP:0030151

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Growth Other:
failure to thrive

Genitourinary:
recurrent urinary tract infections

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

Hematology:
neutropenia
severe autoimmune cytopenia

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 (Updated 05-Mar-2021)

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

46
# Description MGI Source Accession Score Top Affiliating Genes
1 endocrine/exocrine gland MP:0005379 9.85 CD4 CD8A CIITA DCLRE1C HLA-A IL2RG
2 hematopoietic system MP:0005397 9.77 CD4 CD8A CIITA DCLRE1C DOCK8 HLA-A
3 immune system MP:0005387 9.4 CD4 CD8A CIITA DCLRE1C DOCK8 HLA-A
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 top 50) (show all 81)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Adenosine Approved, Investigational Phase 2, Phase 3 58-61-7 60961
2 Immunoglobulin G Phase 3
3 gamma-Globulins Phase 3
4 Immunoglobulins, Intravenous Phase 3
5 Rho(D) Immune Globulin Phase 3
6
Methotrexate Approved Phase 2 1959-05-2, 59-05-2 126941
7
Levoleucovorin Approved, Investigational Phase 2 68538-85-2 149436
8
Mycophenolic acid Approved Phase 2 24280-93-1 446541
9
Tacrolimus Approved, Investigational Phase 2 104987-11-3 445643 439492 6473866
10
Mechlorethamine Approved, Investigational Phase 2 51-75-2 4033
11
Busulfan Approved, Investigational Phase 2 55-98-1 2478
12
alemtuzumab Approved, Investigational Phase 2 216503-57-0
13
Fludarabine Approved Phase 2 21679-14-1, 75607-67-9 30751
14
Thiotepa Approved, Investigational Phase 1, Phase 2 52-24-4 5453
15
Melphalan Approved Phase 2 148-82-3 4053 460612
16
Lenograstim Approved, Investigational Phase 2 135968-09-1
17
Mecasermin Approved, Investigational Phase 1, Phase 2 68562-41-4
18
Folic acid Approved, Nutraceutical, Vet_approved Phase 2 59-30-3 6037
19
Phenylalanine Approved, Investigational, Nutraceutical Phase 2 63-91-2 6140
20 Vitamin B Complex Phase 2
21 Folic Acid Antagonists Phase 2
22 Vitamin B9 Phase 2
23 Dermatologic Agents Phase 2
24 Folate Phase 2
25 Calcineurin Inhibitors Phase 2
26 Antitubercular Agents Phase 2
27 Immunosuppressive Agents Phase 2
28 Alkylating Agents Phase 2
29 Antilymphocyte Serum Phase 1, Phase 2
30 Immunologic Factors Phase 2
31 Thymoglobulin Phase 1, Phase 2
32 Hormones Phase 1, Phase 2
33 Anti-HIV Agents Phase 2
34 Antineoplastic Agents, Immunological Phase 2
35 Adjuvants, Immunologic Phase 2
36 Antiviral Agents Phase 2
37 Anti-Retroviral Agents Phase 2
38 Plerixafor octahydrochloride Phase 2
39 Antibodies, Monoclonal Phase 1, Phase 2
40 Mitogens Phase 1, Phase 2
41 Insulin, Globin Zinc Phase 1, Phase 2
42 insulin Phase 1, Phase 2
43
Zidovudine Approved Phase 1 30516-87-1 35370
44 Cyclosporins Phase 1
45 Reverse Transcriptase Inhibitors Phase 1
46 Antibodies Phase 1
47 Immunoglobulins Phase 1
48
Topiramate Approved 97240-79-4 5284627
49
Cyclophosphamide Approved, Investigational 50-18-0, 6055-19-2 2907
50
Mesna Approved, Investigational 3375-50-6 598

Interventional clinical trials:

(show top 50) (show all 66)
# Name Status NCT ID Phase Drugs
1 Risk-Adapted Allogeneic Stem Cell Transplantation For Mixed Donor Chimerism In Patients With Selected Non-Malignant Diseases Unknown status NCT01019876 Phase 2, Phase 3 Fludarabine;Cyclophosphamide;Cyclophosphamide 40;Cyclophosphamide 30
2 IGIV-C 10% Rapid Infusion Trial in Primary Immune Deficient Patients Completed NCT00220766 Phase 3 Immune Globulin Intravenous [Human], 10% Caprylate/Chromatography Purified;Dextrose, 5% in Water
3 A Study of EZN-2279 (Polyethylene Glycol Recombinant Adenosine Deaminase [PEG-rADA]) Administered as a Weekly Intramuscular Injection in Patients With Adenosine Deaminase (ADA)-Deficient Combined Immunodeficiency Completed NCT01420627 Phase 3
4 A Single Arm, Open Label Clinical Study to Enable Process Validation of Commercial Grade Ex Vivo Hematopoietic Stem Cell Gene Therapy (OTL-101) in Subjects With Severe Combined Immunodeficiency Due to Adenosine Deaminase Deficiency (ADA-SCID) Suspended NCT04140539 Phase 2, Phase 3
5 Protocol No. 2 of Gene Therapy for X-linked Severe Combined Immunodeficiency (SCID-X1) Using a Self Retroviral Vector - SCID2 Unknown status NCT01410019 Phase 1, Phase 2
6 Treatment of ADA-SCID by Gene Therapy on Somatic Cells Completed NCT00599781 Phase 1, Phase 2
7 Efficacy and Safety of Cryopreserved Formulation of Autologous CD34+ Hematopoietic Stem Cells Transduced Ex Vivo With EFS Lentiviral Vector Encoding for Human ADA Gene in Subjects With Severe Combined Immunodeficiency Due to ADA Deficiency Completed NCT02999984 Phase 1, Phase 2 busulfan;PEG-ADA ERT
8 MND-ADA Transduction of CD34+ Cells From the Bone Marrow Of Children With Adenosine Deaminase (ADA)-Deficient Severe Combined Immunodeficiency (SCID): Effect of Discontinuation of PEG-ADA and Marrow Cytoreduction With Busulfan Completed NCT00794508 Phase 2
9 Phase I/II Trial of De-Escalation of Busulfan With Fludarabine and Antithymocyte Globulin as Preparative Therapy for Hematopoietic Stem Cell Transplant for the Treatment of Severe Congenital T-Cell Immunodeficiency Completed NCT00228852 Phase 1, Phase 2 Busulfan, Fludarabine and ATG
10 Phase I/II, Historical Controlled, Open-label, Non-randomised, Single-centre Trial to Assess the Safety and Efficacy of EF1αS-ADA Lentiviral Vector Mediated Gene Modification of Autologous CD34+ Cells From ADA-deficient Individuals Completed NCT01380990 Phase 1, Phase 2 Busulfan;Peg-Ada
11 Phase I Gene Therapy Protocol for Adenosine Deaminase Deficiency Completed NCT01279720 Phase 1, Phase 2
12 Cord Blood Stem Cell Transplantation Study (COBLT) Completed NCT00000603 Phase 2
13 A Phase II Trial of Reduced Intensity Allogeneic Stem Cell Transplantation With Fludarabine, Melphalan and Low Dose Total Body Irradiation Completed NCT01529827 Phase 2 fludarabine phosphate;melphalan;tacrolimus;mycophenolate mofetil;methotrexate
14 Autologous Transplantation of Bone Marrow CD34+ Stem/Progenitor Cells After Addition of a Normal Human ADA cDNA by the EFS-ADA Lentiviral Vector for Severe Combined Immunodeficiency Due to Adenosine Deaminase Deficiency (ADA-SCID) Completed NCT01852071 Phase 1, Phase 2 busulfan;PEG-ADA ERT
15 Phase I/II Trial of Lentiviral Gene Transfer for SCID-X1 With Low Dose Targeted Busulfan Conditioning Recruiting NCT03311503 Phase 1, Phase 2
16 Haplocompatible Transplant Using TCRα/β Depletion Followed by CD45RA-Depleted Donor Lymphocyte Infusions for Severe Combined Immunodeficiency (SCID) Recruiting NCT03597594 Phase 1, Phase 2 Anti-thymocyte globulin (rabbit);Busulfan;Fludarabine;Thiotepa
17 A Phase I/II Feasibility Study of Gene Transfer for Artemis-Deficient Severe Combined Immunodeficiency (ART-SCID) Using a Self-Inactivating Lentiviral Vector (AProArt) to Transduce Autologous CD34 Hematopoietic Cells Recruiting NCT03538899 Phase 1, Phase 2 AProArt;Busulfan
18 Efficacy and Safety of a Cryopreserved Formulation of Autologous CD34+ Haematopoietic Stem Cells Transduced ex Vivo With Elongation Factor 1α Short Form (EFS) Lentiviral Vector Encoding for Human ADA Gene in Subjects With Severe Combined Immunodeficiency (SCID) Due to Adenosine Deaminase Deficiency Recruiting NCT03765632 Phase 1, Phase 2 Busulfan;Peg-Ada
19 A Pilot Feasibility Study of Gene Transfer for X-Linked Severe Combined Immunodeficiency in Newly Diagnosed Infants Using a Self-Inactivating Lentiviral Vector to Transduce Autologous CD34+ Hematopoietic Cells Recruiting NCT01512888 Phase 1, Phase 2 Busulfan
20 PEDS024, Phase I/II Feasibility Study of Busulfan Fludarabine and Thiotepa Conditioning Regimen for Allogeneic Hematopoietic Stem-Cell Transplantation (HSCT) for Children With Non-Malignant Disorders Recruiting NCT03513328 Phase 1, Phase 2 Thiotepa--single daily dose;Thiotepa--escalated dose
21 Lentiviral Gene Transfer for Treatment of Children Older Than 2 Years of Age With X-Linked Severe Combined Immunodeficiency Recruiting NCT03315078 Phase 1, Phase 2 Palifermin;Busulfan
22 Lentiviral Gene Transfer for Treatment of Children Older Than 2 Years of Age With X-Linked Severe Combined Immunodeficiency Recruiting NCT01306019 Phase 1, Phase 2 Palifermin;Busulfan
23 A Study of Hematopoietic Stem Cell Transplantation (HSCT) in Immune Function Disorders Using a Reduced Intensity Preparatory Regime Recruiting NCT01821781 Phase 2 Transplant preparative regimen of alemtuzumab, fludarabine, thiotepa, and melphalan
24 A Phase I/II Study Evaluating the Safety and the Efficacy of Human T Lymphoid Progenitor (HTLP) Injection to Accelerate Immune Reconstitution After Partially HLA Compatible Allogeneic Hematopoietic Stem Cell Transplantation in SCID Patients Recruiting NCT03879876 Phase 1, Phase 2
25 Gene Transfer for X-linked Severe Combined Immunodeficiency (SCID-X1) Using a Self-inactivating Lentiviral Vector （TYF-IL-2Rg） Recruiting NCT03217617 Phase 1, Phase 2
26 A Randomized Trial of Low Versus Moderate Exposure Busulfan for Infants With Severe Combined Immunodeficiency (SCID) Receiving TCRαβ+/CD19+ Depleted Transplantation: A Phase II Study by the Primary Immune Deficiency Treatment Consortium (PIDTC) and Pediatric Blood and Marrow Transplant Consortium (PBMTC) Recruiting NCT03619551 Phase 2 Busulfan
27 Multi-institutional Phase I/II Trial Evaluating the Treatment of SCID-X1 Patients With Retrovirus-mediated Gene Transfer Active, not recruiting NCT01129544 Phase 1, Phase 2
28 Matched Related and Unrelated Donor Stem Cell Transplantation for Severe Combined Immune Deficiency (SCID): Busulfan-based Conditioning With h-ATG, Radiation, and Sirolimus Enrolling by invitation NCT04370795 Phase 1, Phase 2 Sirolimus;Busulfan;Horse -Anti-thymocyte;G-CSF
29 Bilateral Orthotopic Lung Transplant in Tandem With CD3+ and CD19+ Cell Depleted Bone Marrow Transplant From Partially HLA-Matched Cadaveric Donors Enrolling by invitation NCT01852370 Phase 1, Phase 2
30 Hematopoietic Stem Cell Transplantation for Children With Severe Combined Immunodeficiency Disease Utilizing Alemtuzumab and Mobilization With Plerixafor & Filgrastim Terminated NCT01182675 Phase 2 Transplant Conditioning with Mobilization Only;Transplant Conditioning with Mobilization and Alemtuzumab
31 Phase I/II Trial of Hematopoietic Stem Cell Transplant (HSCT) for Children With Severe Combined Immune Deficiency (SCID) and Without an HLA-Matched Sibling Donor Terminated NCT02127892 Phase 1, Phase 2
32 CD45 and Alemtuzumab Monoclonal Antibody Conditioning Regimen For Allogeneic Donor Stem Cell Transplantation Of Patients With Severe Combined Immunodeficiency Disease (SCID) And Other Primary Immunodeficiency Disorders Terminated NCT00579137 Phase 1, Phase 2 Fludarabine
33 Treatment for Growth Failure in Patients With X-Linked Severe Combined Immunodeficiency (XSCID): A Phase 2 Study Assessing Safety and Clinical Response to Treatment With Insulin-like Growth Factor-1 (IGF-1) Terminated NCT00490100 Phase 1, Phase 2 Increlex
34 Sirolimus in Prevention of aGVHD in Maternally Engrafted (TME) Severe Combined Immunodeficiency (SCID) Infants Receiving Unconditioned Hematopoietic Stem Cell Transplant (HSCT) Withdrawn NCT02177760 Phase 2 Sirolimus
35 Treatment of SCID Due to ADA Deficiency With Autologous Cord Blood or Bone Marrow CD34+ Cells Transduced With a Human ADA Gene Completed NCT00018018 Phase 1 CD34+ cells transduced with ADA retrovir
36 Transplantation of Highly Purified Haploidentical CD133 Hematopoietic Cells in Children With Severe Combined Immunodeficiency Syndrome Completed NCT00152100 Phase 1 Filgrastim, Alemtuzumab
37 Ex Vivo Retroviral Gene Transfer For Treatment of X-Linked Severe Combined Immunodeficiency (XSCID) Completed NCT00028236 Phase 1 Gene-Transduced Autologous CD34+ Stem Cells
38 Induction of Mixed Hematopoietic Chimerism in Patients With Severe Combined Immunodeficiency Disorders Using Allogeneic Bone Marrow and Post-Transplant Immunosuppression With Cyclosporine and Mycophenolate Mofetil Completed NCT00008450 Phase 1 Cyclosporine;Mycophenolate Mofetil
39 Phase I/II Study of Lentiviral Gene Transfer for SCID-X1 With Low Dose Targeted Busulfan Recruiting NCT03601286 Phase 1 Lentiviral vector transduced CD34+ cells
40 A Phase I Study To Evaluate The Safety And Tolerability of JSP191 For Hematopoietic Cell Transplantation Conditioning To Achieve Engraftment And Immune Reconstitution In Subjects With SCID Recruiting NCT02963064 Phase 1
41 Safety and Early Efficacy Study of TBX-1400 in Patients With Severe Combined Immunodeficiency Not yet recruiting NCT02860559 Phase 1
42 Gene Therapy for SCID-X1 Using a Self-inactivating (SIN) Gammaretroviral Vector Unknown status NCT01175239
43 Clinical Characteristics and Genetic Profiles of Severe Combined Immunodeficiency in China Unknown status NCT02231983
44 Evaluation of the Clinical Utility and Cost Effectiveness Ratio of Generalized Neonatal Screening for Severe Combined Immunodeficiencies (SCID) by Quantification of TRECs on Guthrie Cards Completed NCT02244450
45 Decisions of Female Adolescents About Carrier Testing in Families With X-Linked Severe Combined Immunodeficiency (XSCID) Completed NCT00006335
46 Treatment of Severe Combined Immunodeficiency Disease (SCID) Due to Adenosine Deaminase (ADA) Deficiency With Autologous Lymphocytes of CD34+ Cells Transduced With a Human ADA Gene: A Natural History Study Completed NCT00001255 ADA PBSC;ADA Umbilical Cord Blood Cells;Transduced Lymphocytes
47 Newborn Screening for SCID in a High-Risk Population Completed NCT00845416
48 Acupuncture in Chronic Migraine: A Randomized Controlled Trial Completed NCT01096420 topiramate
49 Generalized Neonatal Screening for Severe Combined Immunodeficiencies (SCID) by Quantification of TRECs Recruiting NCT02590328
50 The Determination of Genetic Basis Of Immunodeficiency Recruiting NCT00055172

Search NIH Clinical Center for Bare Lymphocyte Syndrome, Type Ii

Inferred drug relations via UMLS 71 / NDF-RT 51 :


pegademase bovine

Cochrane evidence based reviews: severe combined immunodeficiency

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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 29 CIITA RFX5 RFXANK RFXAP
2 Bare Lymphocyte Syndrome Type 2, Complementation Group a 29
3 Bare Lymphocyte Syndrome, Type Ii, Complementation Group C 29
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Anatomical Context for Bare Lymphocyte Syndrome, Type Ii

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

40
Bone, Bone Marrow, T Cells, Liver, Neutrophil
Sources

Publications for Bare Lymphocyte Syndrome, Type Ii

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Articles related to Bare Lymphocyte Syndrome, Type Ii:

(show top 50) (show all 61)
# Title Authors PMID Year
1
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. 54 57 6
10725724 2000
2
Mutation in a winged-helix DNA-binding motif causes atypical bare lymphocyte syndrome. 6 57
12368908 2002
3
Two complementation groups account for most cases of inherited MHC class II deficiency. 57 6
7951244 1994
4
Combined immunodeficiency disease associated with absence of cell-surface HLA-A and -B antigens. 6 57
650344 1978
5
The bare lymphocyte syndrome: molecular clues to the transcriptional regulation of major histocompatibility complex class II genes. 54 57
10417269 1999
6
Complementation cloning of an MHC class II transactivator mutated in hereditary MHC class II deficiency (or bare lymphocyte syndrome). 54 6
8402893 1993
7
Novel mutations in the RFXANK gene: RFX complex containing in-vitro-generated RFXANK mutant binds the promoter without transactivating MHC II. 6
12618906 2003
8
Three novel mutations of the CIITA gene in MHC class II-deficient patients with a severe immunodeficiency. 6
11862382 2002
9
MHC class II deficiency: a disease of gene regulation. 6
11704716 2001
10
Residual expression of functional MHC class II molecules in twin brothers with MHC class II deficiency is cell type specific. 57
11703350 2001
11
Analysis of ankyrin repeats reveals how a single point mutation in RFXANK results in bare lymphocyte syndrome. 6
11463838 2001
12
Uncoordinated HLA-D gene expression in a RFXANK-defective patient with MHC class II deficiency. 6
11313409 2001
13
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. 6
10803838 2000
14
Molecular analysis of an MHC class II deficiency patient reveals a novel mutation in the RFX5 gene. 6
10079298 1999
15
A gene encoding a novel RFX-associated transactivator is mutated in the majority of MHC class II deficiency patients. 6
9806546 1998
16
Mutation of RFXAP, a regulator of MHC class II genes, in primary MHC class II deficiency. 6
9287230 1997
17
Two novel mutations in the MHC class II transactivator CIITA in a second patient from MHC class II deficiency complementation group A. 6
9099848 1997
18
RFXAP, a novel subunit of the RFX DNA binding complex is mutated in MHC class II deficiency. 6
9118943 1997
19
Analysis of mutations and chromosomal localisation of the gene encoding RFX5, a novel transcription factor affected in major histocompatibility complex class II deficiency. 6
9401005 1997
20
Genetic evidence for a new type of major histocompatibility complex class II combined immunodeficiency characterized by a dyscoordinate regulation of HLA-D alpha and beta chains. 57
8642248 1996
21
Deficient antigen-presenting cell function in multiple genetic complementation groups of type II bare lymphocyte syndrome. 57
7615790 1995
22
A novel DNA-binding regulatory factor is mutated in primary MHC class II deficiency (bare lymphocyte syndrome). 6
7744245 1995
23
Brief report: twin boys with major histocompatibility complex class II deficiency but inducible immune responses. 57
7990905 1995
24
MHC class II-deficient combined immunodeficiency: a disease of gene regulation. 57
8070816 1994
25
Class II-antigen-negative patient and mutant B-cell lines represent at least three, and probably four, distinct genetic defects defined by complementation analysis. 57
1852002 1991
26
In vivo footprinting of MHC class II genes: bare promoters in the bare lymphocyte syndrome. 57
1902592 1991
27
Bare lymphocyte syndrome--combined immunodeficiency and neutrophil dysfunction. 57
2209663 1990
28
Congenital immunodeficiencies associated with absence of HLA class II antigens on lymphocytes result from distinct mutations in trans-acting factors. 57
2511169 1989
29
HLA gene amplification and hybridization analysis of polymorphism. HLA matching for bone marrow transplantation of a patient with HLA-deficient severe combined immunodeficiency syndrome. 57
2668336 1989
30
Combined immunodeficiency with defective expression in MHC class II genes. 57
2517209 1989
31
Bare lymphocyte syndrome. Consequences of absent class II major histocompatibility antigen expression for B lymphocyte differentiation and function. 57
3257764 1988
32
Prenatal diagnosis of severe combined immunodeficiency with defective synthesis of HLA molecules. 57
3823004 1987
33
A trans-acting class II regulatory gene unlinked to the MHC controls expression of HLA class II genes. 57
3934559 1985
34
Reactivation by a trans-acting factor of human major histocompatibility complex Ia gene expression in interspecies hybrids between an Ia-negative human B-cell variant and an Ia-positive mouse B-cell lymphoma. 57
3875096 1985
35
A defect in the regulation of major histocompatibility complex class II gene expression in human HLA-DR negative lymphocytes from patients with combined immunodeficiency syndrome. 57
3860509 1985
36
Molecular analysis of the bare lymphocyte syndrome. 57
3894422 1985
37
Genotyping with DNA probes in combined immunodeficiency syndrome with defective expression of HLA. 57
2985991 1985
38
Immunodeficiency diseases and expression of HLA antigens. 6
7021490 1981
39
Failure of lymphocyte-membrane HLA-A and -B expression in two siblings with combined immunodeficiency. 57
92382 1979
40
A novel mutation in RFXANK gene and low B cell count in a patient with MHC class II deficiency: a case report. 61
32578129 2020
41
Disseminated Bacillus Calmette-Guérin (BCG) infection following allogeneic hematopoietic stem cell transplant in a patient with Bare Lymphocyte Syndrome type II. 61
24995715 2014
42
A novel mutation in the TAP2 gene in bare lymphocyte syndrome: association with metastatic cutaneous squamous cell carcinoma. 54
20083708 2010
43
Conserved residues of the bare lymphocyte syndrome transcription factor RFXAP determine coordinate MHC class II expression. 54
16337482 2006
44
Identification of the ankyrin repeat proteins ANKRA and RFXANK as novel partners of class IIa histone deacetylases. 54
15964851 2005
45
Evolutionary conservation and characterization of the bare lymphocyte syndrome transcription factor RFX-B and its paralogue ANKRA2. 54
15655668 2005
46
In vivo, RFX5 binds differently to the human leucocyte antigen-E, -F, and -G gene promoters and participates in HLA class I protein expression in a cell type-dependent manner. 54
14678199 2004
47
When the lymphocyte loses its clothes. 54
12705848 2003
48
Evidence for discoordinate regulation of the HLA-DPB1 gene. 54
12542744 2002
49
The bare lymphocyte syndrome and the regulation of MHC expression. 54
11244040 2001
50
Associations and interactions between bare lymphocyte syndrome factors. 54
10938133 2000
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Variations for Bare Lymphocyte Syndrome, Type Ii

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

6 (show top 50) (show all 711)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 RFX5 RFX5, 4-BP DEL, IVS-AS, G-A, -1 Deletion Pathogenic 7647
2 CIITA MHC2TA, IVS13DS, G-A, +1 Deletion Pathogenic 9540
3 CIITA MHC2TA, 3-BP DEL, 3193CAT Deletion Pathogenic 9545
4 RFX5 NM_000449.3(RFX5):c.234-1G>A SNV Pathogenic 7646 rs748270285 1:151317324-151317324 1:151344848-151344848
5 RFXAP RFXAP, 1-BP INS, 413G Insertion Pathogenic 7649
6 RFXAP RFXAP, 1-BP INS, 505G Insertion Pathogenic 7650
7 CIITA NM_000246.3(CIITA):c.3317+1G>A SNV Pathogenic 9542 rs771073292 16:11016348-11016348 16:10922491-10922491
8 CIITA NM_000246.3(CIITA):c.2890_2969+1del Deletion Pathogenic 9544 rs1555507411 16:11009427-11009507 16:10915570-10915650
9 RFXAP RFXAP, 1-BP DEL, 484G Deletion Pathogenic 7651
10 RFXAP NM_000538.3(RFXAP):c.163C>T (p.Gln55Ter) SNV Pathogenic 7652 rs137853098 13:37393657-37393657 13:36819520-36819520
11 RFX5 NM_000449.3(RFX5):c.116+5G>A SNV Pathogenic 7644 rs556806561 1:151318676-151318676 1:151346200-151346200
12 RFXANK RFXANK, 26-BP DEL, NT752 Deletion Pathogenic 6597
13 RFXANK RFXANK, 58-BP DEL Deletion Pathogenic 6598
14 RFXANK L195P Variation Pathogenic 560882
15 RFX5 NM_001025603.2(RFX5):c.1032C>T (p.Ile344=) SNV Pathogenic 7645 rs1557831362 1:151315481-151315481 1:151343005-151343005
16 CIITA NM_001286403.2(CIITA):c.859+1821G>T SNV Pathogenic 9541 rs137852602 16:11000490-11000490 16:10906633-10906633
17 CIITA NM_001286403.2(CIITA):c.860-1428G>A SNV Pathogenic 9543 rs863223293 16:11001412-11001412 16:10907555-10907555
18 RFXANK NM_003721.4(RFXANK):c.362A>T (p.Asp121Val) SNV Pathogenic 6600 rs104894709 19:19308354-19308354 19:19197545-19197545
19 RFX5 NM_001025603.2(RFX5):c.446G>A (p.Arg149Gln) SNV Pathogenic 7648 rs137853099 1:151316920-151316920 1:151344444-151344444
20 RFXAP NM_000538.3(RFXAP):c.323T>A (p.Leu108Ter) SNV Pathogenic 208152 rs754240018 13:37393817-37393817 13:36819680-36819680
21 CIITA NM_000246.3(CIITA):c.2026C>T (p.Gln676Ter) SNV Pathogenic 528779 rs901844850 16:11001375-11001375 16:10907518-10907518
22 RFXAP NM_000538.3(RFXAP):c.127C>T (p.Gln43Ter) SNV Pathogenic 566425 rs1313207845 13:37393621-37393621 13:36819484-36819484
23 RFXANK NM_003721.4(RFXANK):c.271_271+1insCTGCC Insertion Pathogenic 573785 rs1568578781 19:19307855-19307856 19:19197046-19197047
24 RFX5 NM_001025603.2(RFX5):c.609del (p.Ala204fs) Deletion Pathogenic 649396 rs1571260017 1:151316305-151316305 1:151343829-151343829
25 RFX5 NM_001025603.2(RFX5):c.312dup (p.Asp105Ter) Duplication Pathogenic 648114 rs1571262081 1:151317244-151317245 1:151344768-151344769
26 CIITA NM_000246.3(CIITA):c.922C>T (p.Arg308Ter) SNV Pathogenic 664532 rs567218474 16:10997737-10997737 16:10903880-10903880
27 CIITA NM_001286403.2(CIITA):c.860-1529dup Duplication Pathogenic 663446 rs778982759 16:11001304-11001305 16:10907447-10907448
28 CIITA NC_000016.10:g.(?_10877311)_(10923323_?)del Deletion Pathogenic 832835 16:10971168-11017180
29 RFXANK NM_003721.4(RFXANK):c.362A>T (p.Asp121Val) SNV Pathogenic 6600 rs104894709 19:19308354-19308354 19:19197545-19197545
30 RFXANK NM_003721.4(RFXANK):c.232C>T (p.Arg78Ter) SNV Pathogenic 847978 19:19307816-19307816 19:19197007-19197007
31 CIITA NM_000246.3(CIITA):c.630_633del (p.Met210fs) Deletion Pathogenic 942820 16:10996515-10996518 16:10902658-10902661
32 RFXANK NM_003721.4(RFXANK):c.558T>A (p.Tyr186Ter) SNV Pathogenic 636830 rs1599784374 19:19309035-19309035 19:19198226-19198226
33 CIITA NM_000246.3(CIITA):c.1190del (p.Leu397fs) Deletion Pathogenic 936375 16:11000539-11000539 16:10906682-10906682
34 RFXANK NM_003721.4(RFXANK):c.271+1G>C SNV Pathogenic 6599 rs759667201 19:19307856-19307856 19:19197047-19197047
35 RFXANK NM_003721.4(RFXANK):c.271+1delinsTCAC Indel Pathogenic 992971 19:19307856-19307856 19:19197047-19197047
36 CIITA NM_000246.3(CIITA):c.3062+2T>C SNV Likely pathogenic 935646 16:11010318-11010318 16:10916461-10916461
37 RFXANK NM_003721.4(RFXANK):c.460del (p.Ala154fs) Deletion Likely pathogenic 976235 19:19308936-19308936 19:19198127-19198127
38 RFXANK NM_003721.4(RFXANK):c.271+1G>C SNV Likely pathogenic 6599 rs759667201 19:19307856-19307856 19:19197047-19197047
39 CIITA NM_000246.3(CIITA):c.2657+1G>A SNV Likely pathogenic 846067 16:11002007-11002007 16:10908150-10908150
40 CIITA NM_000246.3(CIITA):c.338dup (p.Leu114fs) Duplication Likely pathogenic 666964 rs1596513253 16:10992566-10992567 16:10898709-10898710
41 RFXANK NM_003721.4(RFXANK):c.454_455del (p.Ile152fs) Deletion Likely pathogenic 689614 rs753338285 19:19308931-19308932 19:19198122-19198123
42 RFX5 NM_001025603.2(RFX5):c.556-2A>G SNV Likely pathogenic 661028 rs1571260171 1:151316360-151316360 1:151343884-151343884
43 RFXANK NM_003721.4(RFXANK):c.419_438+38del Deletion Likely pathogenic 643059 rs1568579997 19:19308408-19308465 19:19197599-19197656
44 CIITA NM_000246.3(CIITA):c.2888+1G>A SNV Conflicting interpretations of pathogenicity 501277 rs372826934 16:11004117-11004117 16:10910260-10910260
45 RFXANK NM_003721.4(RFXANK):c.95C>T (p.Ala32Val) SNV Conflicting interpretations of pathogenicity 538593 rs114064359 19:19304850-19304850 19:19194041-19194041
46 RFX5 NM_001025603.2(RFX5):c.1830C>G (p.Asp610Glu) SNV Conflicting interpretations of pathogenicity 715377 rs141889707 1:151314683-151314683 1:151342207-151342207
47 RFX5 NM_001025603.2(RFX5):c.477T>C (p.Tyr159=) SNV Conflicting interpretations of pathogenicity 723738 rs144353639 1:151316751-151316751 1:151344275-151344275
48 CIITA NM_000246.3(CIITA):c.3357C>T (p.His1119=) SNV Conflicting interpretations of pathogenicity 737125 rs754706834 16:11017124-11017124 16:10923267-10923267
49 CIITA NM_000246.3(CIITA):c.2892G>A (p.Leu964=) SNV Conflicting interpretations of pathogenicity 459196 rs200599265 16:11009430-11009430 16:10915573-10915573
50 CIITA NM_000246.3(CIITA):c.1068G>A (p.Pro356=) SNV Conflicting interpretations of pathogenicity 528793 rs140486686 16:11000417-11000417 16:10906560-10906560

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

73
# 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

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Expression for Bare Lymphocyte Syndrome, Type Ii

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

# Super pathways Score Top Affiliating Genes
1
Allograft rejection 36 1
Show member pathways
 12.3 TAP2 RFXAP RFXANK RFX5 HLA-A CIITA
2
NF-kappaB Signaling 4
12.15 ZAP70 TAP2 RAG1 DCLRE1C CIITA CD8A
3
Tuberculosis 36
11.92 RFXAP RFXANK RFX5 CIITA
4
IL12-mediated signaling events 1
Show member pathways
 11.68 IL2RG HLA-A CD8A CD4
5
TCR signaling in naive CD4+ T cells 1
Show member pathways
 11.59 ZAP70 HLA-A CD8A CD4
6
CTLA4 Signaling 63
11.46 ZAP70 CD8A CD4
7
Downstream signaling in naive CD8+ T cells 1
Show member pathways
 11.37 IL2RG HLA-A CD8A
8
Primary immunodeficiency 36
10.94 ZAP70 TAP2 RFXAP RFXANK RFX5 RAG1
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 RNA polymerase II transcription factor complex GO:0090575 9.43 RFXAP RFXANK RFX5
2 MHC class I peptide loading complex GO:0042824 9.16 TAP2 HLA-A
3 DNA ligase IV complex GO:0032807 8.96 NHEJ1 LIG4
4 nonhomologous end joining complex GO:0070419 8.8 NHEJ1 LIG4 DCLRE1C

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

(show all 17)
# Name GO ID Score Top Affiliating Genes
1 immune system process GO:0002376 9.97 ZAP70 TAP2 HLA-A DCLRE1C CD8A CD4
2 viral process GO:0016032 9.95 TRIM22 TAP2 IL2RG HLA-A CD4
3 DNA recombination GO:0006310 9.74 RAG1 LIG4 DCLRE1C
4 B cell differentiation GO:0030183 9.7 RAG1 NHEJ1 DCLRE1C
5 interferon-gamma-mediated signaling pathway GO:0060333 9.65 TRIM22 HLA-A CIITA
6 double-strand break repair via nonhomologous end joining GO:0006303 9.61 NHEJ1 LIG4 DCLRE1C
7 double-strand break repair GO:0006302 9.58 NHEJ1 LIG4 DCLRE1C
8 positive regulation of calcium-mediated signaling GO:0050850 9.56 ZAP70 CD4
9 interleukin-15-mediated signaling pathway GO:0035723 9.54 IL2RG CD4
10 response to ionizing radiation GO:0010212 9.54 NHEJ1 LIG4 DCLRE1C
11 antigen processing and presentation of endogenous peptide antigen via MHC class I GO:0019885 9.51 TAP2 HLA-A
12 T cell activation GO:0042110 9.5 ZAP70 CD8A CD4
13 adaptive immune response GO:0002250 9.5 ZAP70 TAP2 RAG1 HLA-A DCLRE1C CD8A
14 negative regulation of T cell apoptotic process GO:0070233 9.46 RAG1 DOCK8
15 T cell differentiation GO:0030217 9.43 ZAP70 NHEJ1 CD4
16 V(D)J recombination GO:0033151 9.33 RAG1 LIG4 DCLRE1C
17 immune response GO:0006955 9.28 ZAP70 TRIM22 RFX1 RAG1 IL2RG HLA-A
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Sources for Bare Lymphocyte Syndrome, Type Ii

About this section
3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 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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