BLS2
MCID: BRL012
MIFTS: 66

Bare Lymphocyte Syndrome, Type Ii (BLS2)

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

Aliases & Classifications for Bare Lymphocyte Syndrome, Type Ii

MalaCards integrated aliases for Bare Lymphocyte Syndrome, Type Ii:

Name: Bare Lymphocyte Syndrome, Type Ii 56
Bare Lymphocyte Syndrome 2 74 52 73 29 6 71
Bare Lymphocyte Syndrome 56 74 52 54 71
Major Histocompatibility Complex Class Ii Deficiency 25 73 71 32
Mhc Class Ii Deficiency 12 25 58 15
Bare Lymphocyte Syndrome, Type Ii, Complementation Group C 56 29 6
Severe Combined Immunodeficiency, Hla Class Ii-Negative 56 52 25
Bare Lymphocyte Syndrome Type Ii 12 25 73
Bare Lymphocyte Syndrome Type 2 52 25 58
Bare Lymphocyte Syndrome, Type Ii, Complementation Group D 56 6
Bare Lymphocyte Syndrome, Type Ii, Complementation Group a 56 13
Bare Lymphocyte Syndrome Type 2, Complementation Group a 29 6
Scid Due to Absent Class Ii Hla Antigens 12 39
Severe Combined Immunodeficiency 43 71
Scid, Hla Class Ii-Negative 56 25
Scid, Hla Class 2-Negative 52 25
Hla Class 1 Deficiency 52 71
Bls Type Ii 25 73
Severe Combined Immunodeficiency Due to Absent Class Ii Human Leukocyte Antigens 25
Bare Lymphocyte Syndrome, Type Ii, Complementation Group E 56
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 56
Hla Class Ii Deficient Combined Immunodeficiency 73
Scid Due to Absence of Class Ii Hla Antigens 25
Hereditary Mhc Class Ii Deficiency 73
Bare Lymphocyte Syndrome; Bls 56
Scid Hla Class Ii-Negative 73
Mhc-Ii Deficiency 73
Bls, Type Ii 56
Bls Type 1 52
Bls Ii 73
Blsii 12
Bls 2 52
Bls2 73
Bls 56

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:

56
Inheritance:
autosomal recessive

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


HPO:

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


Classifications:

Orphanet: 58  
Rare gastroenterological diseases
Rare immunological diseases


Summaries for Bare Lymphocyte Syndrome, Type Ii

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. 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 t-b- severe combined immunodeficiency and severe combined immunodeficiency with sensitivity to ionizing radiation. 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 Cytokine Signaling in Immune system and Allograft rejection. The drugs Adenosine and Rho(D) Immune Globulin have been mentioned in the context of this disorder. Affiliated tissues include t cells, bone and bone marrow, 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.

NIH Rare Diseases : 52 The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 572 Definition 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.

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

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 682)
# Related Disease Score Top Affiliating Genes
1 t-b- severe combined immunodeficiency 35.1 RAG2 DCLRE1C
2 severe combined immunodeficiency with sensitivity to ionizing radiation 34.8 RAG2 RAG1 NHEJ1 DCLRE1C
3 adenosine deaminase deficiency 33.9 RAG2 RAG1 IL2RG CD4
4 reticular dysgenesis 33.7 RAG1 NHEJ1 IL2RG DCLRE1C AK2
5 lig4 syndrome 32.8 RAG2 RAG1 NHEJ1 DCLRE1C
6 immunodeficiency 17 32.6 RAG2 NHEJ1 DOCK8 CD8A
7 recombinase activating gene 1 deficiency 32.4 RAG2 RAG1
8 janus kinase-3 deficiency 32.3 RAG2 IL2RG
9 purine nucleoside phosphorylase deficiency 32.2 ZAP70 RAG1 NHEJ1 DCLRE1C AK2
10 coronin-1a deficiency 32.2 RAG1 DOCK8 AK2
11 omenn syndrome 32.1 ZAP70 RAG2 RAG1 NHEJ1 IL2RG DOCK8
12 chronic mucocutaneous candidiasis 31.9 DOCK8 CD8A CD4
13 combined cellular and humoral immune defects with granulomas 31.4 RAG2 RAG1
14 chickenpox 30.7 DOCK8 CD8A CD4
15 t-cell lymphoblastic leukemia/lymphoma 30.6 ZAP70 RAG2 RAG1 CD4
16 anemia, autoimmune hemolytic 30.5 ZAP70 CD8A CD4
17 alveolar echinococcosis 30.4 TAP2 HLA-A CD8A
18 secondary syphilis 30.3 CD8A CD4
19 common variable immunodeficiency 30.2 ZAP70 RAG2 RAG1 HLA-A
20 cytomegalovirus retinitis 30.1 HLA-A CD8A CD4
21 progressive multifocal leukoencephalopathy 30.1 RAG1 CD8A CD4
22 immunodeficiency with hyper-igm, type 1 30.0 RAG2 RAG1 CD4
23 mastoiditis 30.0 DOCK8 CD4
24 epidermodysplasia verruciformis 1 30.0 DOCK8 CD8A CD4
25 diabetes mellitus, type i 30.0 TAP2 HLA-A CIITA CD8A CD4
26 bare lymphocyte syndrome, type i 29.9 TAP2 RFXAP RFXANK RFX5 DOCK8 CIITA
27 t cell deficiency 29.7 ZAP70 RAG1 IL2RG DOCK8 CD8A CD4
28 digeorge syndrome 29.5 RAG2 RAG1 IL2RG DOCK8 DCLRE1C CD8A
29 immune deficiency disease 29.5 ZAP70 RFXAP RFXANK RFX5 RAG2 RAG1
30 severe combined immunodeficiency 29.2 ZAP70 RFXAP RFXANK RFX5 RAG2 RAG1
31 severe combined immunodeficiency, x-linked 13.1
32 severe combined immunodeficiency, autosomal recessive, t cell-negative, b cell-positive, nk cell-negative 13.1
33 severe combined immunodeficiency, autosomal recessive, t cell-negative, b cell-positive, nk cell-positive 13.0
34 severe combined immunodeficiency, autosomal recessive, t cell-negative, b cell-negative, nk cell-negative, due to adenosine deaminase deficiency 12.9
35 severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation 12.9
36 short-limb skeletal dysplasia with severe combined immunodeficiency 12.8
37 zap70-related severe combined immunodeficiency 12.8
38 jak3-deficient severe combined immunodeficiency 12.8
39 t-b+ severe combined immunodeficiency due to cd3delta/cd3epsilon/cd3zeta 12.5
40 severe combined immunodeficiency due to ikk2 deficiency 12.5
41 non-severe combined immunodeficiency 12.5
42 severe combined immunodeficiency, atypical 12.5
43 burkitt lymphoma 12.5
44 t-cell immunodeficiency, congenital alopecia, and nail dystrophy 12.3
45 immunodeficiency 18 12.3
46 immunodeficiency 19 12.2
47 immunodeficiency 26 with or without neurologic abnormalities 12.2
48 immunodeficiency 49 12.1
49 immunodeficiency 52 12.1
50 immunodeficiency by defective expression of mhc class i 12.1

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:

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 herpes 58 31 frequent (33%) Frequent (79-30%) HP:0005353
11 recurrent candida infections 58 31 frequent (33%) Frequent (79-30%) HP:0005401
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 abnormal facial shape 58 31 very rare (1%) Very rare (<4-1%) HP:0001999
28 dysarthria 58 31 very rare (1%) Very rare (<4-1%) HP:0001260
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 malabsorption 31 HP:0002024
35 recurrent upper respiratory tract infections 31 HP:0002788
36 recurrent urinary tract infections 31 HP:0000010
37 autoimmunity 58 Occasional (29-5%)
38 decreased antibody level in blood 58 Frequent (79-30%)
39 agammaglobulinemia 31 HP:0004432
40 encephalitis 31 HP:0002383
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:

56
Abdomen Gastrointestinal:
malabsorption
protracted diarrhea
variable degree of villous atrophy
intraepithelial infiltration by lymphocytes, macrophages, plasma cells
severe colitis

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

Growth Other:
failure to thrive

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

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

45
# 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

Drugs & Therapeutics for Bare Lymphocyte Syndrome, Type Ii

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

(show top 50) (show all 92)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Adenosine Approved, Investigational Phase 4 58-61-7 60961
2 Rho(D) Immune Globulin Phase 3
3 Immunoglobulins, Intravenous Phase 3
4 gamma-Globulins Phase 3
5 Immunoglobulin G Phase 3
6
Methotrexate Approved Phase 2 59-05-2, 1959-05-2 126941
7
leucovorin Approved Phase 2 58-05-9 6006 143
8
Levoleucovorin Approved, Investigational Phase 2 68538-85-2
9
Tacrolimus Approved, Investigational Phase 2 104987-11-3 445643 439492 6473866
10
Mechlorethamine Approved, Investigational Phase 2 51-75-2 4033
11
Hydroxyurea Approved Phase 2 127-07-1 3657
12
Thiotepa Approved, Investigational Phase 2 52-24-4 5453
13
Ezetimibe Approved Phase 2 163222-33-1 150311
14
Fludarabine Approved Phase 1, Phase 2 21679-14-1, 75607-67-9 30751
15
alemtuzumab Approved, Investigational Phase 1, Phase 2 216503-57-0
16
Lenograstim Approved, Investigational Phase 2 135968-09-1
17
Busulfan Approved, Investigational Phase 2 55-98-1 2478
18
Cyclophosphamide Approved, Investigational Phase 2 50-18-0, 6055-19-2 2907
19
Mecasermin Approved, Investigational Phase 1, Phase 2 68562-41-4
20
Folic acid Approved, Nutraceutical, Vet_approved Phase 2 59-30-3 6037
21
Phenylalanine Approved, Investigational, Nutraceutical Phase 2 63-91-2 6140
22 Vitamin B Complex Phase 2
23 Folic Acid Antagonists Phase 2
24 Folate Phase 2
25 Vitamin B9 Phase 2
26 Micronutrients Phase 2
27 Antidotes Phase 2
28 Vitamins Phase 2
29 Hematinics Phase 2
30 Nutrients Phase 2
31 Trace Elements Phase 2
32 Antimetabolites Phase 2
33 Lipid Regulating Agents Phase 2
34 Hypolipidemic Agents Phase 2
35 Anticholesteremic Agents Phase 2
36 Antineoplastic Agents, Immunological Phase 2
37 Anti-HIV Agents Phase 2
38 Adjuvants, Immunologic Phase 2
39 Plerixafor octahydrochloride Phase 2
40 Antiviral Agents Phase 2
41 Anti-Retroviral Agents Phase 2
42 Thymoglobulin Phase 2
43 Antilymphocyte Serum Phase 2
44 Antibodies, Monoclonal Phase 1, Phase 2
45 Insulin, Globin Zinc Phase 1, Phase 2
46 Hormones Phase 1, Phase 2
47 Mitogens Phase 1, Phase 2
48 insulin Phase 1, Phase 2
49
Zidovudine Approved Phase 1 30516-87-1 35370
50
Aldesleukin Approved Phase 1 85898-30-2, 110942-02-4

Interventional clinical trials:

(show top 50) (show all 85)
# Name Status NCT ID Phase Drugs
1 Methodology Study to Investigate the Utility of Retroviral Insertion Site Analysis in Samples From Subjects Treated With Strimvelis™ Gene Therapy Not yet recruiting NCT03311074 Phase 4
2 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
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 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
5 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) Recruiting NCT04140539 Phase 2, Phase 3
6 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
7 Phase I Gene Therapy Protocol for Adenosine Deaminase Deficiency Completed NCT01279720 Phase 1, Phase 2
8 Treatment of ADA-SCID by Gene Therapy on Somatic Cells Completed NCT00599781 Phase 1, Phase 2
9 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
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/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
12 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
13 ADA Gene Transfer Into Hematopoietic Stem/Progenitor Cells for the Treatment of ADA-SCID Completed NCT00598481 Phase 2
14 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
15 Mechanisms of Antifolate Efficacy in Arthritis Completed NCT00000395 Phase 2 Methotrexate
16 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
17 Cord Blood Stem Cell Transplantation Study (COBLT) Completed NCT00000603 Phase 2
18 A Phase II Study of Reduced Intensity Conditioning in Pediatric Patients and Young Adults ≤55 Years of Age With Non-Malignant Disorders Undergoing Umbilical Cord Blood, Bone Marrow, or Peripheral Blood Stem Cell Transplantation Recruiting NCT01962415 Phase 2 Hydroxyurea;Alemtuzumab;Fludarabine;Melphalan;Thiotepa
19 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
20 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
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 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
23 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
24 Phase I/II Trial of Lentiviral Gene Transfer for SCID-X1 With Low Dose Targeted Busulfan Conditioning Recruiting NCT03311503 Phase 1, Phase 2
25 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
26 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
27 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
28 Phase II Study for Patients With Primary Immunodeficiencies Using and Cd19+ Depleted Unrelated Donor or Partially Matched Related Donor Peripheral Stem Cells Recruiting NCT02990819 Phase 2
29 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
30 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
31 Ezetimibe as a Safe and Efficacious Treatment for Chronic Hepatitis C Recruiting NCT02971033 Phase 2 20mg ezetimibe;Placebo;40mg ezetimibe
32 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
33 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
34 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
35 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
36 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
37 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
38 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
39 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
40 Allogeneic Hematopoietic Cell Transplantation for Patients With Acute Lymphoblastic Leukemia in Remission Using HLA-matched Sibling Donors, HLA-matched Unrelated Donors, or HLA-mismatched Familial Donors-A Phase 2 Study Terminated NCT01037764 Phase 2
41 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
42 Transplantation of Highly Purified Haploidentical CD133 Hematopoietic Cells in Children With Severe Combined Immunodeficiency Syndrome Completed NCT00152100 Phase 1 Filgrastim, Alemtuzumab
43 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
44 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
45 Ex Vivo Retroviral Gene Transfer For Treatment of X-Linked Severe Combined Immunodeficiency (XSCID) Completed NCT00028236 Phase 1 Gene-Transduced Autologous CD34+ Stem Cells
46 Treatment of SCID Due to ADA Deficiency With Autologous Transplantation of Cord Blood or Hematopoietic CD 34+ Cells After Addition of a Normal Human ADA cDNA by the EFS-ADA Lentiviral Vector Completed NCT02022696 Phase 1
47 Phase I/II Trial of Recombinant Interleukin-2 In Symptomatic Human Immunodeficiency Virus-Infected Children Completed NCT00000849 Phase 1 Aldesleukin
48 Treatment of EBV, CMV, and Adenovirus Infections in Primary Immunodeficiency Disorders With Viral-specific Cytotoxic T-Lymphocytes Completed NCT02510404 Phase 1
49 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
50 A Phase 1 Study to Evaluate the Safety and Tolerability of Tandemly-purified Allogenic CD34+CD90+ HSC Administered Following Conditioning With AMG 191 to Achieve Engraftment and Immune Reconstitution in Patients With SCID Recruiting NCT02963064 Phase 1

Search NIH Clinical Center for Bare Lymphocyte Syndrome, Type Ii

Inferred drug relations via UMLS 71 / NDF-RT 50 :


pegademase bovine

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 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

Anatomical Context for Bare Lymphocyte Syndrome, Type Ii

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

40
T Cells, Bone, Bone Marrow, Skin, Lung, Testes, Neutrophil

Publications for Bare Lymphocyte Syndrome, Type Ii

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. 56 54 6
10725724 2000
2
Mutation in a winged-helix DNA-binding motif causes atypical bare lymphocyte syndrome. 56 6
12368908 2002
3
Two complementation groups account for most cases of inherited MHC class II deficiency. 6 56
7951244 1994
4
Combined immunodeficiency disease associated with absence of cell-surface HLA-A and -B antigens. 6 56
650344 1978
5
The bare lymphocyte syndrome: molecular clues to the transcriptional regulation of major histocompatibility complex class II genes. 56 54
10417269 1999
6
Complementation cloning of an MHC class II transactivator mutated in hereditary MHC class II deficiency (or bare lymphocyte syndrome). 6 54
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. 56
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. 56
8642248 1996
21
Deficient antigen-presenting cell function in multiple genetic complementation groups of type II bare lymphocyte syndrome. 56
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. 56
7990905 1995
24
MHC class II-deficient combined immunodeficiency: a disease of gene regulation. 56
8070816 1994
25
In vivo footprinting of MHC class II genes: bare promoters in the bare lymphocyte syndrome. 56
1902592 1991
26
Class II-antigen-negative patient and mutant B-cell lines represent at least three, and probably four, distinct genetic defects defined by complementation analysis. 56
1852002 1991
27
Bare lymphocyte syndrome--combined immunodeficiency and neutrophil dysfunction. 56
2209663 1990
28
Congenital immunodeficiencies associated with absence of HLA class II antigens on lymphocytes result from distinct mutations in trans-acting factors. 56
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. 56
2668336 1989
30
Combined immunodeficiency with defective expression in MHC class II genes. 56
2517209 1989
31
Bare lymphocyte syndrome. Consequences of absent class II major histocompatibility antigen expression for B lymphocyte differentiation and function. 56
3257764 1988
32
Prenatal diagnosis of severe combined immunodeficiency with defective synthesis of HLA molecules. 56
3823004 1987
33
A trans-acting class II regulatory gene unlinked to the MHC controls expression of HLA class II genes. 56
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. 56
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. 56
3860509 1985
36
Molecular analysis of the bare lymphocyte syndrome. 56
3894422 1985
37
Genotyping with DNA probes in combined immunodeficiency syndrome with defective expression of HLA. 56
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. 56
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

Variations for Bare Lymphocyte Syndrome, Type Ii

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

6 (show top 50) (show all 574) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 RFXANK RFXANK, LEU195PROundetermined variant Pathogenic 560882
2 RFXAP NM_000538.3(RFXAP):c.127C>T (p.Gln43Ter)SNV Pathogenic 566425 rs1313207845 13:37393621-37393621 13:36819484-36819484
3 RFXANK NM_003721.4(RFXANK):c.271_271+1insCTGCCinsertion Pathogenic 573785 rs1568578781 19:19307855-19307856 19:19197046-19197047
4 RFX5 NM_000449.3(RFX5):c.609del (p.Ala204fs)deletion Pathogenic 649396 1:151316305-151316305 1:151343829-151343829
5 RFX5 NM_000449.3(RFX5):c.312dup (p.Asp105Ter)duplication Pathogenic 648114 1:151317244-151317245 1:151344768-151344769
6 CIITA NM_000246.3(CIITA):c.1962dup (p.Gly655fs)duplication Pathogenic 663446 16:11001304-11001305 16:10907447-10907448
7 CIITA NM_000246.3(CIITA):c.922C>T (p.Arg308Ter)SNV Pathogenic 664532 16:10997737-10997737 16:10903880-10903880
8 CIITA NM_000246.3(CIITA):c.2026C>T (p.Gln676Ter)SNV Pathogenic 528779 rs901844850 16:11001375-11001375 16:10907518-10907518
9 CIITA NC_000016.10:g.(?_10877311)_(10923323_?)deldeletion Pathogenic 832835 16:10971168-11017180
10 RFXANK NM_003721.4(RFXANK):c.232C>T (p.Arg78Ter)SNV Pathogenic 847978 19:19307816-19307816 19:19197007-19197007
11 RFXANK RFXANK, 26-BP DEL, NT752deletion Pathogenic 6597
12 RFXANK RFXANK, 58-BP DELdeletion Pathogenic 6598
13 RFXANK NM_003721.4(RFXANK):c.271+1G>CSNV Pathogenic 6599 19:19307856-19307856 19:19197047-19197047
14 RFX5 NM_000449.3(RFX5):c.116+5G>ASNV Pathogenic 7644 1:151318676-151318676 1:151346200-151346200
15 RFX5 NM_000449.3(RFX5):c.1032C>T (p.Ile344=)SNV Pathogenic 7645 rs1557831362 1:151315481-151315481 1:151343005-151343005
16 RFX5 NM_000449.3(RFX5):c.234-1G>ASNV Pathogenic 7646 rs748270285 1:151317324-151317324 1:151344848-151344848
17 RFX5 RFX5, 4-BP DEL, IVS-AS, G-A, -1deletion Pathogenic 7647
18 RFXAP RFXAP, 1-BP INS, 413Ginsertion Pathogenic 7649
19 RFXAP RFXAP, 1-BP INS, 505Ginsertion Pathogenic 7650
20 RFXAP RFXAP, 1-BP DEL, 484Gdeletion Pathogenic 7651
21 RFXAP NM_000538.3(RFXAP):c.163C>T (p.Gln55Ter)SNV Pathogenic 7652 rs137853098 13:37393657-37393657 13:36819520-36819520
22 CIITA MHC2TA, IVS13DS, G-A, +1deletion Pathogenic 9540
23 CIITA NM_000246.3(CIITA):c.1141G>T (p.Glu381Ter)SNV Pathogenic 9541 rs137852602 16:11000490-11000490 16:10906633-10906633
24 CIITA NM_000246.3(CIITA):c.3317+1G>ASNV Pathogenic 9542 rs771073292 16:11016348-11016348 16:10922491-10922491
25 CIITA NM_000246.3(CIITA):c.2063G>A (p.Trp688Ter)SNV Pathogenic 9543 rs863223293 16:11001412-11001412 16:10907555-10907555
26 CIITA NM_000246.3(CIITA):c.2890_2969+1deldeletion Pathogenic 9544 rs1555507411 16:11009427-11009507 16:10915570-10915650
27 CIITA MHC2TA, 3-BP DEL, 3193CATdeletion Pathogenic 9545
28 RFXAP NM_000538.3(RFXAP):c.323T>A (p.Leu108Ter)SNV Pathogenic 208152 rs754240018 13:37393817-37393817 13:36819680-36819680
29 RFXANK NM_003721.4(RFXANK):c.362A>T (p.Asp121Val)SNV Likely pathogenic 6600 rs104894709 19:19308354-19308354 19:19197545-19197545
30 CIITA NM_000246.3(CIITA):c.2657+1G>ASNV Likely pathogenic 846067 16:11002007-11002007 16:10908150-10908150
31 RFX5 NM_000449.3(RFX5):c.556-2A>GSNV Likely pathogenic 661028 1:151316360-151316360 1:151343884-151343884
32 RFXANK NM_003721.4(RFXANK):c.419_438+38deldeletion Likely pathogenic 643059 19:19308408-19308465 19:19197599-19197656
33 CIITA NM_000246.3(CIITA):c.338dup (p.Leu114fs)duplication Likely pathogenic 666964 16:10992566-10992567 16:10898709-10898710
34 RFXANK NM_003721.4(RFXANK):c.454_455del (p.Ile152fs)deletion Likely pathogenic 689614 19:19308931-19308932 19:19198122-19198123
35 RFXANK NM_003721.4(RFXANK):c.95C>T (p.Ala32Val)SNV Conflicting interpretations of pathogenicity 538593 rs114064359 19:19304850-19304850 19:19194041-19194041
36 CIITA NM_000246.3(CIITA):c.931A>G (p.Met311Val)SNV Conflicting interpretations of pathogenicity 625921 rs140139362 16:10997746-10997746 16:10903889-10903889
37 CIITA NM_000246.3(CIITA):c.1068G>A (p.Pro356=)SNV Conflicting interpretations of pathogenicity 528793 rs140486686 16:11000417-11000417 16:10906560-10906560
38 CIITA NM_000246.3(CIITA):c.2892G>A (p.Leu964=)SNV Conflicting interpretations of pathogenicity 459196 rs200599265 16:11009430-11009430 16:10915573-10915573
39 CIITA NM_000246.3(CIITA):c.2888+1G>ASNV Conflicting interpretations of pathogenicity 501277 rs372826934 16:11004117-11004117 16:10910260-10910260
40 CIITA NM_000246.3(CIITA):c.2817-10T>CSNV Conflicting interpretations of pathogenicity 779637 16:11004035-11004035 16:10910178-10910178
41 CIITA NM_000246.3(CIITA):c.2442C>T (p.His814=)SNV Conflicting interpretations of pathogenicity 755870 16:11001791-11001791 16:10907934-10907934
42 CIITA NM_000246.3(CIITA):c.3003C>T (p.Asp1001=)SNV Conflicting interpretations of pathogenicity 765270 16:11010257-11010257 16:10916400-10916400
43 RFXANK NM_003721.4(RFXANK):c.501C>A (p.Gly167=)SNV Conflicting interpretations of pathogenicity 765708 19:19308978-19308978 19:19198169-19198169
44 RFXANK NM_003721.4(RFXANK):c.529C>G (p.Leu177Val)SNV Conflicting interpretations of pathogenicity 765516 19:19309006-19309006 19:19198197-19198197
45 CIITA NM_000246.3(CIITA):c.1461C>G (p.Ile487Met)SNV Conflicting interpretations of pathogenicity 785312 16:11000810-11000810 16:10906953-10906953
46 RFX5 NM_000449.3(RFX5):c.1830C>G (p.Asp610Glu)SNV Conflicting interpretations of pathogenicity 715377 1:151314683-151314683 1:151342207-151342207
47 RFX5 NM_000449.3(RFX5):c.477T>C (p.Tyr159=)SNV Conflicting interpretations of pathogenicity 723738 1:151316751-151316751 1:151344275-151344275
48 CIITA NM_000246.3(CIITA):c.3357C>T (p.His1119=)SNV Conflicting interpretations of pathogenicity 737125 16:11017124-11017124 16:10923267-10923267
49 RFXAP NM_000538.3(RFXAP):c.312C>T (p.Ser104=)SNV Conflicting interpretations of pathogenicity 311785 rs373233313 13:37393806-37393806 13:36819669-36819669
50 RFXAP NM_000538.3(RFXAP):c.666A>G (p.Ala222=)SNV Conflicting interpretations of pathogenicity 311790 rs139675642 13:37399630-37399630 13:36825493-36825493

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

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:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.13 TRIM22 RAG2 RAG1 IL2RG HLA-A CIITA
2
Show member pathways
12.3 TAP2 RFXAP RFXANK RFX5 HLA-A CIITA
3 12.15 ZAP70 TAP2 RAG1 DCLRE1C CIITA CD8A
4 11.96 RFXAP RFXANK RFX5 CIITA
5
Show member pathways
11.72 IL2RG HLA-A CD8A CD4
6
Show member pathways
11.59 ZAP70 HLA-A CD8A CD4
7 11.48 ZAP70 CD8A CD4
8
Show member pathways
11.39 IL2RG HLA-A CD8A
9 10.98 ZAP70 TAP2 RFXAP RFXANK RFX5 RAG2
10 10.94 RAG2 RAG1 IL2RG

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 MHC class I peptide loading complex GO:0042824 9.16 TAP2 HLA-A
2 nonhomologous end joining complex GO:0070419 8.96 NHEJ1 DCLRE1C
3 DNA recombinase complex GO:0097519 8.62 RAG2 RAG1

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

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 viral process GO:0016032 9.92 TRIM22 TAP2 IL2RG HLA-A CD4
2 immune system process GO:0002376 9.91 ZAP70 TAP2 HLA-A DCLRE1C CD8A CD4
3 DNA recombination GO:0006310 9.71 RAG2 RAG1 DCLRE1C
4 adaptive immune response GO:0002250 9.7 ZAP70 TAP2 RAG1 HLA-A DCLRE1C CD8A
5 interferon-gamma-mediated signaling pathway GO:0060333 9.65 TRIM22 HLA-A CIITA
6 B cell differentiation GO:0030183 9.62 RAG2 RAG1 NHEJ1 DCLRE1C
7 T cell activation GO:0042110 9.58 ZAP70 CD8A CD4
8 positive regulation of calcium-mediated signaling GO:0050850 9.55 ZAP70 CD4
9 interleukin-15-mediated signaling pathway GO:0035723 9.51 IL2RG CD4
10 antigen processing and presentation of endogenous peptide antigen via MHC class I GO:0019885 9.49 TAP2 HLA-A
11 negative regulation of T cell apoptotic process GO:0070233 9.46 RAG1 DOCK8
12 V(D)J recombination GO:0033151 9.43 RAG2 RAG1 DCLRE1C
13 pre-B cell allelic exclusion GO:0002331 9.37 RAG2 RAG1
14 immune response GO:0006955 9.28 ZAP70 TRIM22 RFX1 RAG1 IL2RG HLA-A
15 T cell differentiation GO:0030217 9.26 ZAP70 RAG2 NHEJ1 CD4

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

# Name GO ID Score Top Affiliating Genes
1 transcription regulatory region sequence-specific DNA binding GO:0000976 8.92 RFXAP RFXANK RFX5 CIITA

Sources for Bare Lymphocyte Syndrome, Type Ii

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....