XSCID
MCID: SVR066
MIFTS: 63

Severe Combined Immunodeficiency, X-Linked (XSCID)

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

Aliases & Classifications for Severe Combined Immunodeficiency, X-Linked

MalaCards integrated aliases for Severe Combined Immunodeficiency, X-Linked:

Name: Severe Combined Immunodeficiency, X-Linked 58 54 13 56
X-Linked Severe Combined Immunodeficiency 12 77 25 54 26 30 6 15
Scidx1 58 54 26 60 76
Xscid 58 12 54 26 76
X-Linked Combined Immunodeficiency Diseases 45 17 74
Scidx 58 54 76
Severe Combined Immunodeficiency, X-Linked, T Cell-Negative, B Cell-Positive, Nk Cell-Negative 58 54
Gamma Chain Deficiency 12 17
Immunodeficiency 4 58 76
Scid, X-Linked 58 54
X-Linked Scid 54 26
X-Scid 54 26
Imd4 58 76
Severe Combined Immunodeficiency X-Linked T-Cell-Negative/b-Cell-Positive/nk-Cell-Negative 76
Severe Combined Immunodeficiency X-Linked T Cell-Negative/b Cell-Positive/nk Cell-Negative 76
Severe Combined Immunodeficiency X-Linked T-Cell Negative/b-Cell Positive/nk-Cell Negative 76
Severe Combined Immunodeficiency Due to Adenosine Deaminase Deficiency 74
Severe Combined Immunodeficiency T- B+ Due to Gamma Chain Deficiency 54
T-B+ Severe Combined Immunodeficiency Due to Gamma Chain Deficiency 60
Severe Combined Immunodeficiency T- B+, X-Linked 54
T-B+ Severe Combined Immunodeficiency, X-Linked 60
T-B+ Scid Due to Gamma Chain Deficiency 60
Immunodeficiency, Combined, X-Linked 41
Agammaglobulinemia Swiss Type 76
Thymic Epithelial Hypoplasia 12
Immunodeficiency 4; Imd4 58
Il2rg Scid, T- B+ Nk- 26
Scid X-Linked 76
Scidx; Xscid 58
Scid-X1 12

Characteristics:

Orphanet epidemiological data:

60
t-b+ severe combined immunodeficiency due to gamma chain deficiency
Inheritance: X-linked recessive; Age of onset: Neonatal;

OMIM:

58
Inheritance:
x-linked recessive

Miscellaneous:
death within first year of life


HPO:

33
severe combined immunodeficiency, x-linked:
Inheritance x-linked recessive inheritance


Classifications:

Orphanet: 60  
Rare immunological diseases


External Ids:

Disease Ontology 12 DOID:0060013
OMIM 58 300400
NCIt 51 C4682
ICD10 via Orphanet 35 D81.2
UMLS via Orphanet 75 C2931540
Orphanet 60 ORPHA276

Summaries for Severe Combined Immunodeficiency, X-Linked

NIH Rare Diseases : 54 X-linked severe combined immunodeficiency (X-SCID) is a severe, genetic condition of the immune system. Signs and symptoms often become apparent in early infancy and include failure to thrive; oral/diaper candidiasis (yeast infection); absent tonsils and lymph nodes; recurrent, persistent infections; rashes; diarrhea; fevers; and pneumonia. X-SCID is caused by mutations in the IL2RG gene and is inherited in an X-linked recessive manner; it only affects males. The condition is typically fatal in the first two years of life unless treated with a bone marrow transplant or gene therapy.

MalaCards based summary : Severe Combined Immunodeficiency, X-Linked, also known as x-linked severe combined immunodeficiency, is related to immunodysregulation, polyendocrinopathy, and enteropathy, x-linked and t cell deficiency. An important gene associated with Severe Combined Immunodeficiency, X-Linked is IL2RG (Interleukin 2 Receptor Subunit Gamma), and among its related pathways/superpathways are Innate Immune System and ERK Signaling. The drugs Pharmaceutical Solutions and Busulfan have been mentioned in the context of this disorder. Affiliated tissues include t cells, nk cells and b cells, and related phenotypes are failure to thrive and hepatomegaly

Disease Ontology : 12 A severe combined immunodeficiency that is a X-linked SCID that has material basis in mutations in genes encoding common gamma chain proteins shared by the interleukin (IL-2,4,7,9,16 and21) receptors resulting in a non-functional gamma chain, defective interleukin signalling, minimal or ascent T- and NK cells and non-functional B-cells.

Genetics Home Reference : 26 X-linked severe combined immunodeficiency (SCID) is an inherited disorder of the immune system that occurs almost exclusively in males. Boys with X-linked SCID are prone to recurrent and persistent infections because they lack the necessary immune cells to fight off certain bacteria, viruses, and fungi. Many infants with X-linked SCID develop chronic diarrhea, a fungal infection called thrush, and skin rashes. Affected individuals also grow more slowly than other children. Without treatment, males with X-linked SCID usually do not live beyond infancy.

UniProtKB/Swiss-Prot : 76 Severe combined immunodeficiency X-linked T-cell-negative/B-cell-positive/NK-cell-negative: A form of severe combined immunodeficiency (SCID), a genetically and clinically heterogeneous group of rare congenital disorders characterized by impairment of both humoral and cell-mediated immunity, leukopenia, and low or absent antibody levels. Patients present in infancy recurrent, persistent infections by opportunistic organisms. The common characteristic of all types of SCID is absence of T-cell-mediated cellular immunity due to a defect in T-cell development.

Wikipedia : 77 X-linked severe combined immunodeficiency (X-SCID) is an immunodeficiency disorder in which the body... more...

Description from OMIM: 300400
GeneReviews:

Related Diseases for Severe Combined Immunodeficiency, X-Linked

Diseases related to Severe Combined Immunodeficiency, X-Linked via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 75)
# Related Disease Score Top Affiliating Genes
1 immunodysregulation, polyendocrinopathy, and enteropathy, x-linked 30.2 IL2 IL4 IL7R
2 t cell deficiency 30.1 IL2 IL7R
3 omenn syndrome 29.1 ADA IL2RG IL4 IL7R
4 combined t cell and b cell immunodeficiency 28.7 ADA IL2 IL2RG IL7 IL7R JAK3
5 severe combined immunodeficiency 27.5 ADA IL2 IL21 IL2RG IL4 IL7
6 severe combined immunodeficiency, autosomal recessive, t cell-negative, b cell-negative, nk cell-negative, due to adenosine deaminase deficiency 11.3
7 immunodeficiency, common variable, 4 11.2
8 combined immunodeficiency, x-linked 11.1
9 b cell linker protein deficiency 10.2 IL7 JAK3
10 b-cell growth factor 10.2 IL4 IL7
11 trichinosis 10.2 IL4 IL9
12 papillary conjunctivitis 10.2 IL4 IL7
13 leukemia 10.2
14 enterobiasis 10.1 IL4 IL9
15 virus associated hemophagocytic syndrome 10.1 IL2 IL4
16 autoimmune vasculitis 10.1 IL2 IL4
17 conjunctivitis 10.1 IL2 IL4
18 atopic keratoconjunctivitis 10.1 IL2 IL4
19 keratoconjunctivitis 10.1 IL2 IL4
20 angiostrongyliasis 10.1 IL2 IL4
21 thyroid lymphoma 10.1 IL7 IL7R
22 thymic dysplasia 10.1 IL2RG IL7 IL9
23 gaucher disease, type ii 10.1 IL2 IL4
24 autoimmune gastritis 10.1 IL2 IL4
25 vulvovaginal candidiasis 10.1 IL2 IL4
26 coccidiosis 10.1 IL2 IL4
27 lymphoblastic leukemia, acute, with lymphomatous features 10.1 IL7R JAK3
28 vernal conjunctivitis 10.1 IL2 IL4
29 aphthous stomatitis 10.1 IL2 IL4
30 acute graft versus host disease 10.1 IL2 IL4
31 onchocerciasis 10.1 IL2 IL4
32 human immunodeficiency virus infectious disease 10.1 IL2 IL7
33 autoimmune uveitis 10.1 IL2 IL4
34 ige responsiveness, atopic 10.0 IL4 IL9
35 paracoccidioidomycosis 10.0 IL2 IL4
36 hematopoietic stem cell transplantation 10.0
37 parasitic helminthiasis infectious disease 10.0 IL2 IL4
38 adenosine deaminase deficiency 10.0 ADA IL2RG
39 agammaglobulinemia 10.0
40 leukemia, acute monocytic 10.0
41 wiskott-aldrich syndrome 10.0
42 leukemia, acute myeloid 10.0
43 hemophagocytic lymphohistiocytosis 10.0
44 lymphoma 10.0
45 pneumonia 10.0
46 hepatoblastoma 10.0
47 monocytic leukemia 10.0
48 myeloid leukemia 10.0
49 brucellosis 10.0 IL2 IL4
50 spondylocarpotarsal synostosis syndrome 10.0

Graphical network of the top 20 diseases related to Severe Combined Immunodeficiency, X-Linked:



Diseases related to Severe Combined Immunodeficiency, X-Linked

Symptoms & Phenotypes for Severe Combined Immunodeficiency, X-Linked

Human phenotypes related to Severe Combined Immunodeficiency, X-Linked:

33 (show all 11)
# Description HPO Frequency HPO Source Accession
1 failure to thrive 33 HP:0001508
2 hepatomegaly 33 HP:0002240
3 hypoplasia of the thymus 33 HP:0000778
4 skin rash 33 HP:0000988
5 chronic diarrhea 33 HP:0002028
6 agammaglobulinemia 33 HP:0004432
7 pneumonia 33 HP:0002090
8 recurrent fungal infections 33 HP:0002841
9 severe combined immunodeficiency 33 HP:0004430
10 recurrent bacterial meningitis 33 HP:0007274
11 chronic oral candidiasis 33 HP:0009098

Symptoms via clinical synopsis from OMIM:

58
Growth Other:
failure to thrive

Abdomen Gastrointestinal:
chronic diarrhea

Respiratory Lung:
pneumonia

Head And Neck Mouth:
oral thrush

Neurologic Central Nervous System:
recurrent bacterial meningitis

Abdomen Liver:
hepatomegaly

Laboratory Abnormalities:
agammaglobulinemia
low absolute lymphocyte count

Immunology:
thymic hypoplasia
frequent bacterial, fungal and viral infections
specific antibody production very poor
natural killer cells, reduced numbers and cytotoxicity
absent t lymphocytes
more
Skin Nails Hair Skin:
candidal diaper rash
erythematous skin rashes

Clinical features from OMIM:

300400

MGI Mouse Phenotypes related to Severe Combined Immunodeficiency, X-Linked:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 9.81 ADA IL2 IL21 IL2RG IL4 IL7
2 digestive/alimentary MP:0005381 9.8 ADA IL2 IL2RG IL4 IL9 JAK3
3 endocrine/exocrine gland MP:0005379 9.8 ADA IL2 IL2RG IL4 IL7 IL7R
4 immune system MP:0005387 9.61 ADA IL2 IL21 IL2RG IL4 IL7
5 normal MP:0002873 9.1 ADA IL21 IL2RG IL4 IL7R IL9

Drugs & Therapeutics for Severe Combined Immunodeficiency, X-Linked

Drugs for Severe Combined Immunodeficiency, X-Linked (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 50)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Pharmaceutical Solutions Phase 2, Phase 3
2
Busulfan Approved, Investigational Phase 1, Phase 2,Phase 2 55-98-1 2478
3
Hydrochlorothiazide Approved, Vet_approved Phase 2 58-93-5 3639
4
Amiloride Approved Phase 2 2016-88-8, 2609-46-3 16231
5
Parathyroid hormone Approved, Investigational Phase 2 9002-64-6
6
Teriparatide Approved, Investigational Phase 2 52232-67-4 16133850
7
Mecasermin Approved, Investigational Phase 1, Phase 2 68562-41-4
8
Vitamin D Approved, Nutraceutical, Vet_approved Phase 2 1406-16-2
9
Calcium Approved, Nutraceutical Phase 2 7440-70-2 271
10
Alfacalcidol Approved, Nutraceutical Phase 2 41294-56-8 5282181
11 Immunologic Factors Phase 1, Phase 2,Phase 2
12 Alkylating Agents Phase 1, Phase 2,Phase 2
13 Antineoplastic Agents, Alkylating Phase 1, Phase 2,Phase 2
14 Immunosuppressive Agents Phase 1, Phase 2,Phase 2
15 Micronutrients Phase 2
16 Hydroxycholecalciferols Phase 2
17 Calcium, Dietary Phase 2
18 Antihypertensive Agents Phase 2
19 diuretics Phase 2
20 Sodium Chloride Symporter Inhibitors Phase 2
21 Diuretics, Potassium Sparing Phase 2
22 Calciferol Phase 2
23 Bone Density Conservation Agents Phase 2
24 Vitamins Phase 2
25 Trace Elements Phase 2
26 Hormones Phase 2,Phase 1
27 Natriuretic Agents Phase 2
28 Nutrients Phase 2
29 Sodium Channel Blockers Phase 2
30 Insulin, Globin Zinc Phase 1, Phase 2
31 insulin Phase 1, Phase 2
32 Mitogens Phase 1, Phase 2
33 Hypoglycemic Agents Phase 1, Phase 2
34
Mycophenolic acid Approved Phase 1 24280-93-1 446541
35
Miconazole Approved, Investigational, Vet_approved Phase 1 22916-47-8 4189
36 Anti-Bacterial Agents Phase 1
37 Anti-Infective Agents Phase 1
38 Cyclosporins Phase 1
39 Antifungal Agents Phase 1
40 Dermatologic Agents Phase 1
41 Antirheumatic Agents Phase 1
42 Calcineurin Inhibitors Phase 1
43 Antitubercular Agents Phase 1
44 Antibiotics, Antitubercular Phase 1
45
Acetylcholine Approved, Investigational 51-84-3 187
46
Nitroprusside Approved, Investigational 15078-28-1 11963622
47
Adenosine Approved, Investigational 58-61-7 60961
48 Coagulants Not Applicable
49 Factor VIII Not Applicable
50 Estrogens

Interventional clinical trials:

(show all 33)
# Name Status NCT ID Phase Drugs
1 Extension of Study TKT024 Evaluating Long-Term Safety and Clinical Outcomes in MPS II Patients Receiving Idursulfase Completed NCT00630747 Phase 2, Phase 3
2 Gene Therapy for X-linked Severe Combined Immunodeficiency Unknown status NCT01410019 Phase 1, Phase 2
3 Safety and Efficacy of Umbilical Cord Mesenchymal Stem Cell Therapy for Patients With Duchenne Muscular Dystrophy Unknown status NCT01610440 Phase 1, Phase 2
4 An Open-Label Clinical Trial of Replagal Enzyme Therapy in Children Ages 7-17 Years With Fabry Disease Completed NCT00071877 Phase 2 Replagal
5 Lentiviral Gene Transfer for Treatment of Children Older Than Two Years of Age With X-Linked Severe Combined Immunodeficiency (XSCID) Recruiting NCT01306019 Phase 1, Phase 2 Busulfan
6 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
7 Gene Transfer for SCID-X1 Using a Self-inactivating Lentiviral Vector (TYF-IL-2Rg) Recruiting NCT03217617 Phase 1, Phase 2
8 Gene Transfer for X-Linked Severe Combined Immunodeficiency in Newly Diagnosed Infants Recruiting NCT01512888 Phase 1, Phase 2 Busulfan
9 Phase I/II Trial of Lentiviral Gene Transfer for SCID-X1 With Low Dose Targeted Busulfan Conditioning Recruiting NCT03311503 Phase 1, Phase 2
10 Recombinant Human rhPTH(1-34) VS Association Alfacalcidol/Hydrochlorothiazide in Severe Primary Hypoparathyroidism Recruiting NCT02824718 Phase 2 Teriparatide;Thiazide;Potassium sparing diuretic;Alfacalcidol
11 Gene Transfer for Severe Combined Immunodeficiency, X-linked (SCID-X1) Using a Self-inactivating (SIN) Gammaretroviral Vector Active, not recruiting NCT01129544 Phase 1, Phase 2
12 Treatment for Growth Failure in Patients With X-Linked Severe Combined Immunodeficiency: Phase 2 Study of Insulin-Like Growth Factor-1 Terminated NCT00490100 Phase 1, Phase 2 Increlex
13 Stem Cell Gene Therapy to Treat X-Linked Severe Combined Immunodeficiency (XSCID) Completed NCT00028236 Phase 1 Gene-Transduced Autologous CD34+ Stem Cells
14 An Open-Label Maintenance Study of the Enzyme Replacement Therapy Replagal in Patients With Fabry Disease Completed NCT00357786 Phase 1 Replagal agalsidase alfa;Replagal
15 Gene Therapy for Gaucher's and Fabry Disease Using Viruses and Blood-Forming Cells Completed NCT00001234 Phase 1
16 Total-Body Irradiation Followed By Cyclosporine and Mycophenolate Mofetil in Treating Patients With Severe Combined Immunodeficiency Undergoing Donor Bone Marrow Transplant Active, not recruiting NCT00008450 Phase 1 Cyclosporine;Mycophenolate Mofetil
17 Lentiviral Gene Therapy for X-linked Severe Combined Immunodeficiency Not yet recruiting NCT03601286 Phase 1 Lentiviral vector transduced CD34+ cells
18 Gene Therapy for X-linked Severe Combined Immunodeficiency (SCID-X1) Unknown status NCT01175239 Not Applicable
19 Efficacy and Safety of ADVATE Standard Prophylaxis to Hemophilia A Unknown status NCT02280265 Not Applicable Recombinant Human Coagulation Factor VIII for injection
20 Genome-wide Single Cell Haplotyping as a Generic Method for Preimplantation Genetic Diagnosis Unknown status NCT01336400
21 Influences on Female Adolescents' Decisions Regarding Testing for Carrier Status of XSCID Completed NCT00006335
22 Establishment of Biomarkers for Fabry Disease Completed NCT01165697
23 Vasodilation in Patients With Fabry's Disease Completed NCT00001774
24 Analysis of the Nervous System in Patients With Fabry's Disease Completed NCT00001491
25 Genetic Studies Spermatogenic Failure Completed NCT00548977
26 Evaluation of Patients With Immune Function Abnormalities Recruiting NCT00128973
27 Natural History Study of SCID Disorders Recruiting NCT01186913
28 Natural History of the Progression of Choroideremia Study Recruiting NCT03359551
29 Patients Treated for SCID (1968-Present) Recruiting NCT01346150
30 Use of G-CSF to Obtain Blood Cell Precursors Recruiting NCT00001405
31 Molecular and Clinical Studies of Primary Immunodeficiency Diseases Active, not recruiting NCT00006319
32 Platelet Function in Patients With Hemophilia A Enrolling by invitation NCT02093065
33 cliniMACs HUD for T Cell Depletion No longer available NCT02915406

Search NIH Clinical Center for Severe Combined Immunodeficiency, X-Linked

Cochrane evidence based reviews: x-linked combined immunodeficiency diseases

Genetic Tests for Severe Combined Immunodeficiency, X-Linked

Genetic tests related to Severe Combined Immunodeficiency, X-Linked:

# Genetic test Affiliating Genes
1 X-Linked Severe Combined Immunodeficiency 30 IL2RG

Anatomical Context for Severe Combined Immunodeficiency, X-Linked

MalaCards organs/tissues related to Severe Combined Immunodeficiency, X-Linked:

42
T Cells, Nk Cells, B Cells, Bone, Bone Marrow, Skin, Lymph Node

Publications for Severe Combined Immunodeficiency, X-Linked

Articles related to Severe Combined Immunodeficiency, X-Linked:

(show top 50) (show all 154)
# Title Authors Year
1
Successful in utero stem cell transplantation in X-linked severe combined immunodeficiency. ( 30683657 )
2019
2
Persistent systemic rotavirus vaccine infection in a child with X-linked SCID. ( 30687932 )
2019
3
Preclinical Development of a Lentiviral Vector for Gene Therapy of X-Linked Severe Combined Immunodeficiency. ( 29707600 )
2018
4
X-Linked Severe Combined Immunodeficiency and Hepatoblastoma: A Case Report and Review of Literature. ( 29620683 )
2018
5
Rat polyomavirus 2 infection in a colony of X-linked severe combined immunodeficiency rats in Japan. ( 30012933 )
2018
6
T-cell replete haploidentical bone marrow transplantation for X-linked severe combined immunodeficiency. ( 30128577 )
2018
7
T cell dynamics and response of the microbiota after gene therapy to treat X-linked severe combined immunodeficiency. ( 30261899 )
2018
8
Acute Myeloid Leukemia in a Patient With X-linked Severe Combined Immunodeficiency. ( 28678090 )
2017
9
Maternal T and B cell engraftment in two cases of X-linked severe combined immunodeficiency with IgG1 gammopathy. ( 28780374 )
2017
10
Limiting Thymic Precursor Supply Increases the Risk of Lymphoid Malignancy in Murine X-Linked Severe Combined Immunodeficiency. ( 28325276 )
2017
11
A novel deletion mutation in IL2RG gene results in X-linked severe combined immunodeficiency with an atypical phenotype. ( 27566612 )
2016
12
Gene Therapy for X-Linked Severe Combined Immunodeficiency: Where Do We Stand? ( 26790362 )
2016
13
Erratum for the Research Article: "Lentiviral hematopoietic stem cell gene therapy for X-linked severe combined immunodeficiency" by S. S. De Ravin, X. Wu, S. Moir, S. Anaya-O'Brien, N. Kwatemaa, P. Littel, N. Theobald, U. Choi, L. Su, M. Marquesen, D. Hilligoss, J. Lee, C. M. Buckner, K. A. Zarember, G. O'Connor, D. McVicar, D. Kuhns, R. E. Throm, S. Zhou, L. D. Notarangelo, I. C. Hanson, M. J. Cowan, E. Kang, C. Hadigan, M. Meagher, J. T. Gray, B. P. Sorrentino, H. L. Malech. ( 27252172 )
2016
14
Lentiviral hematopoietic stem cell gene therapy for X-linked severe combined immunodeficiency. ( 27099176 )
2016
15
Different Clinical Phenotypes in 2 Siblings With X-Linked Severe Combined Immunodeficiency. ( 27012023 )
2016
16
X-linked severe combined immunodeficiency (X-SCID) rats for xeno-transplantation and behavioral evaluation. ( 25662444 )
2015
17
Analysis of Mutations in the IL2RG Gene in 2 Asian Infants With X-linked Severe Combined Immunodeficiency. ( 26310054 )
2015
18
A novel common gamma chain mutation in a Chinese family with X-linked severe combined immunodeficiency (X-SCID; T(-)NK(-)B(+)). ( 26409833 )
2015
19
Mutation analyses and prenatal diagnosis in families of X-linked severe combined immunodeficiency caused by IL2RI^ gene novel mutation. ( 26125817 )
2015
20
Gene therapy studies in a canine model of x-linked severe combined immunodeficiency. ( 25603151 )
2015
21
A novel intronic splice site deletion of the IL-2 receptor common gamma chain results in expression of a dysfunctional protein and T-cell-positive X-linked Severe combined immunodeficiency. ( 25443657 )
2015
22
A modified I^-retrovirus vector for X-linked severe combined immunodeficiency. ( 25295500 )
2014
23
Keratinocyte antiviral response to Poly(dA:dT) stimulation and papillomavirus infection in a canine model of X-linked severe combined immunodeficiency. ( 25025687 )
2014
24
X-linked severe combined immunodeficiency due to a novel mutation complicated with hemophagocytic lymphohistiocytosis and presented with invagination: A case report. ( 25215194 )
2014
25
False-positive HIV PCR test following ex vivo lentiviral gene transfer treatment of X-linked severe combined immunodeficiency vector. ( 24487563 )
2014
26
Molecular and virological evidence of viral activation from chromosomally integrated human herpesvirus 6A in a patient with X-linked severe combined immunodeficiency. ( 24803376 )
2014
27
Clinical characteristics and mutation analysis of X-linked severe combined immunodeficiency in China. ( 22105576 )
2013
28
Novel mutation of IL2RG gene in a Korean boy with X-linked severe combined immunodeficiency. ( 23653982 )
2013
29
Massively parallel sequencing reveals maternal somatic IL2RG mosaicism in an X-linked severe combined immunodeficiency family. ( 23683512 )
2013
30
Gene therapy model of X-linked severe combined immunodeficiency using a modified foamy virus vector. ( 23990961 )
2013
31
Multiple reversions of an IL2RG mutation restore T cell function in an X-linked severe combined immunodeficiency patient. ( 22460439 )
2012
32
Critical variables affecting clinical-grade production of the self-inactivating gamma-retroviral vector for the treatment of X-linked severe combined immunodeficiency. ( 22551777 )
2012
33
Long-term persistence of a polyclonal T cell repertoire after gene therapy for X-linked severe combined immunodeficiency. ( 21865537 )
2011
34
Ex vivo I^-retroviral gene therapy of dogs with X-linked severe combined immunodeficiency and the development of a thymic T cell lymphoma. ( 21536334 )
2011
35
Generation of knockout rats with X-linked severe combined immunodeficiency (X-SCID) using zinc-finger nucleases. ( 20111598 )
2010
36
Efficacy of gene therapy for X-linked severe combined immunodeficiency. ( 20660403 )
2010
37
Partially corrected X-linked severe combined immunodeficiency: long-term problems and treatment options. ( 18979075 )
2009
38
The evolution of gene therapy in X-linked severe combined immunodeficiency. ( 19492655 )
2009
39
Recombinant DNA advisory committee updates recommendations on gene transfer for x-linked severe combined immunodeficiency. ( 19404322 )
2009
40
A mutation in the IL-2 receptor gamma chain gene associated with X-linked severe combined immunodeficiency accompanying opisthotonus. ( 19398866 )
2009
41
Case of leukaemia associated with X-linked severe combined immunodeficiency gene therapy trial in London. ( 18380015 )
2008
42
Clinical and immunologic consequences of a somatic reversion in a patient with X-linked severe combined immunodeficiency. ( 18728247 )
2008
43
Self-inactivating gammaretroviral vectors for gene therapy of X-linked severe combined immunodeficiency. ( 18180772 )
2008
44
Interleukin-2 receptor gamma chain mutation results in X-linked severe combined immunodeficiency in humans. Cell 73: 147-157. 1993. ( 18941169 )
2008
45
Detection of T lymphocytes with a second-site mutation in skin lesions of atypical X-linked severe combined immunodeficiency mimicking Omenn syndrome. ( 18559672 )
2008
46
Short stature in partially corrected X-linked severe combined immunodeficiency--suboptimal response to growth hormone. ( 19189700 )
2008
47
Tumor immune surveillance defect of X-linked severe combined immunodeficiency is not Epstein-Barr virus specific. ( 18615703 )
2008
48
Maternal T-cell engraftment associated with severe hemophagocytosis of the bone marrow in untreated X-linked severe combined immunodeficiency. ( 18458578 )
2008
49
Rituximab for lymphoproliferative disease prior to haematopoietic stem cell transplantation for X-linked severe combined immunodeficiency. ( 16732583 )
2008
50
Combating oncogene activation associated with retrovirus-mediated gene therapy of X-linked severe combined immunodeficiency. ( 17464421 )
2007

Variations for Severe Combined Immunodeficiency, X-Linked

UniProtKB/Swiss-Prot genetic disease variations for Severe Combined Immunodeficiency, X-Linked:

76 (show all 31)
# Symbol AA change Variation ID SNP ID
1 IL2RG p.Asp39Asn VAR_002668
2 IL2RG p.Cys62Gly VAR_002669
3 IL2RG p.Glu68Gly VAR_002670
4 IL2RG p.Glu68Lys VAR_002671 rs105752064
5 IL2RG p.Asn84Lys VAR_002672
6 IL2RG p.Tyr89Cys VAR_002673
7 IL2RG p.Tyr105Cys VAR_002674 rs193922347
8 IL2RG p.Gly114Asp VAR_002675 rs111033620
9 IL2RG p.Cys115Phe VAR_002676
10 IL2RG p.Cys115Arg VAR_002677 rs111033622
11 IL2RG p.His123Pro VAR_002678
12 IL2RG p.Tyr125Asn VAR_002679
13 IL2RG p.Gln144Pro VAR_002680
14 IL2RG p.Ile153Asn VAR_002681 rs111033621
15 IL2RG p.Ala156Val VAR_002682 rs105752106
16 IL2RG p.Leu162His VAR_002683
17 IL2RG p.Leu172Pro VAR_002684
18 IL2RG p.Leu172Gln VAR_002685
19 IL2RG p.Cys182Arg VAR_002686
20 IL2RG p.Leu183Ser VAR_002687
21 IL2RG p.Arg224Trp VAR_002689 rs869320658
22 IL2RG p.Arg226Cys VAR_002690 rs869320659
23 IL2RG p.Arg226His VAR_002691 rs869320660
24 IL2RG p.Phe227Cys VAR_002692
25 IL2RG p.Leu230Pro VAR_002693
26 IL2RG p.Cys231Tyr VAR_002694
27 IL2RG p.Gly232Arg VAR_002695
28 IL2RG p.Trp240Cys VAR_002697
29 IL2RG p.Ser241Ile VAR_002698
30 IL2RG p.Met270Arg VAR_002699
31 IL2RG p.Arg285Gln VAR_002701 rs111033617

ClinVar genetic disease variations for Severe Combined Immunodeficiency, X-Linked:

6 (show top 50) (show all 89)
# Gene Variation Type Significance SNP ID Assembly Location
1 IL2RG NM_000206.2(IL2RG): c.355A> T (p.Lys119Ter) single nucleotide variant Pathogenic rs137852507 GRCh37 Chromosome X, 70330453: 70330453
2 IL2RG NM_000206.2(IL2RG): c.355A> T (p.Lys119Ter) single nucleotide variant Pathogenic rs137852507 GRCh38 Chromosome X, 71110603: 71110603
3 IL2RG IL2RG, ARG267TER single nucleotide variant Pathogenic
4 IL2RG NM_000206.2(IL2RG): c.923C> A (p.Ser308Ter) single nucleotide variant Pathogenic rs137852509 GRCh37 Chromosome X, 70328128: 70328128
5 IL2RG NM_000206.2(IL2RG): c.923C> A (p.Ser308Ter) single nucleotide variant Pathogenic rs137852509 GRCh38 Chromosome X, 71108278: 71108278
6 IL2RG NM_000206.2(IL2RG): c.186T> A (p.Cys62Ter) single nucleotide variant Pathogenic rs111033619 GRCh37 Chromosome X, 70330830: 70330830
7 IL2RG NM_000206.2(IL2RG): c.186T> A (p.Cys62Ter) single nucleotide variant Pathogenic rs111033619 GRCh38 Chromosome X, 71110980: 71110980
8 IL2RG NM_000206.2(IL2RG): c.341G> A (p.Gly114Asp) single nucleotide variant Pathogenic rs111033620 GRCh37 Chromosome X, 70330467: 70330467
9 IL2RG NM_000206.2(IL2RG): c.341G> A (p.Gly114Asp) single nucleotide variant Pathogenic rs111033620 GRCh38 Chromosome X, 71110617: 71110617
10 IL2RG NM_000206.2(IL2RG): c.454+1G> A single nucleotide variant Pathogenic GRCh38 Chromosome X, 71110503: 71110503
11 IL2RG NM_000206.2(IL2RG): c.454+1G> A single nucleotide variant Pathogenic GRCh37 Chromosome X, 70330353: 70330353
12 IL2RG NM_000206.2(IL2RG): c.458T> A (p.Ile153Asn) single nucleotide variant Pathogenic rs111033621 GRCh37 Chromosome X, 70330142: 70330142
13 IL2RG NM_000206.2(IL2RG): c.458T> A (p.Ile153Asn) single nucleotide variant Pathogenic rs111033621 GRCh38 Chromosome X, 71110292: 71110292
14 IL2RG NM_000206.2(IL2RG): c.703_711dupCAGCATTGG (p.Trp237_Ser238insGlnHisTrp) duplication Pathogenic rs587776729 GRCh37 Chromosome X, 70329124: 70329132
15 IL2RG NM_000206.2(IL2RG): c.703_711dupCAGCATTGG (p.Trp237_Ser238insGlnHisTrp) duplication Pathogenic rs587776729 GRCh38 Chromosome X, 71109274: 71109282
16 IL2RG NM_000206.2(IL2RG): c.343T> C (p.Cys115Arg) single nucleotide variant Pathogenic rs111033622 GRCh37 Chromosome X, 70330465: 70330465
17 IL2RG NM_000206.2(IL2RG): c.343T> C (p.Cys115Arg) single nucleotide variant Pathogenic rs111033622 GRCh38 Chromosome X, 71110615: 71110615
18 IL2RG NM_000206.2(IL2RG): c.854G> A (p.Arg285Gln) single nucleotide variant Pathogenic rs111033617 GRCh37 Chromosome X, 70328449: 70328449
19 IL2RG NM_000206.2(IL2RG): c.854G> A (p.Arg285Gln) single nucleotide variant Pathogenic rs111033617 GRCh38 Chromosome X, 71108599: 71108599
20 IL2RG NM_000206.2(IL2RG): c.452T> C (p.Leu151Pro) single nucleotide variant Pathogenic rs137852511 GRCh37 Chromosome X, 70330356: 70330356
21 IL2RG NM_000206.2(IL2RG): c.452T> C (p.Leu151Pro) single nucleotide variant Pathogenic rs137852511 GRCh38 Chromosome X, 71110506: 71110506
22 IL2RG NM_000206.2(IL2RG): c.270-1G> T single nucleotide variant Pathogenic/Likely pathogenic rs193922346 GRCh37 Chromosome X, 70330539: 70330539
23 IL2RG NM_000206.2(IL2RG): c.270-1G> T single nucleotide variant Pathogenic/Likely pathogenic rs193922346 GRCh38 Chromosome X, 71110689: 71110689
24 IL2RG NM_000206.2(IL2RG): c.314A> G (p.Tyr105Cys) single nucleotide variant Likely pathogenic rs193922347 GRCh37 Chromosome X, 70330494: 70330494
25 IL2RG NM_000206.2(IL2RG): c.314A> G (p.Tyr105Cys) single nucleotide variant Likely pathogenic rs193922347 GRCh38 Chromosome X, 71110644: 71110644
26 IL2RG NM_000206.2(IL2RG): c.455T> C (p.Val152Ala) single nucleotide variant Pathogenic/Likely pathogenic rs193922348 GRCh37 Chromosome X, 70330145: 70330145
27 IL2RG NM_000206.2(IL2RG): c.455T> C (p.Val152Ala) single nucleotide variant Pathogenic/Likely pathogenic rs193922348 GRCh38 Chromosome X, 71110295: 71110295
28 IL2RG NM_000206.2(IL2RG): c.662T> C (p.Phe221Ser) single nucleotide variant Likely pathogenic rs193922349 GRCh37 Chromosome X, 70329173: 70329173
29 IL2RG NM_000206.2(IL2RG): c.662T> C (p.Phe221Ser) single nucleotide variant Likely pathogenic rs193922349 GRCh38 Chromosome X, 71109323: 71109323
30 IL2RG NM_000206.2(IL2RG): c.710G> A (p.Trp237Ter) single nucleotide variant Likely pathogenic rs193922350 GRCh37 Chromosome X, 70329125: 70329125
31 IL2RG NM_000206.2(IL2RG): c.710G> A (p.Trp237Ter) single nucleotide variant Likely pathogenic rs193922350 GRCh38 Chromosome X, 71109275: 71109275
32 IL2RG NM_000206.2(IL2RG): c.865C> T (p.Arg289Ter) single nucleotide variant Pathogenic rs137852508 GRCh37 Chromosome X, 70328186: 70328186
33 IL2RG NM_000206.2(IL2RG): c.865C> T (p.Arg289Ter) single nucleotide variant Pathogenic rs137852508 GRCh38 Chromosome X, 71108336: 71108336
34 IL2RG NM_000206.2(IL2RG): c.677G> A (p.Arg226His) single nucleotide variant Pathogenic rs869320660 GRCh38 Chromosome X, 71109308: 71109308
35 IL2RG NM_000206.2(IL2RG): c.677G> A (p.Arg226His) single nucleotide variant Pathogenic rs869320660 GRCh37 Chromosome X, 70329158: 70329158
36 IL2RG NM_000206.2(IL2RG): c.676C> T (p.Arg226Cys) single nucleotide variant Pathogenic rs869320659 GRCh37 Chromosome X, 70329159: 70329159
37 IL2RG NM_000206.2(IL2RG): c.676C> T (p.Arg226Cys) single nucleotide variant Pathogenic rs869320659 GRCh38 Chromosome X, 71109309: 71109309
38 IL2RG NM_000206.2(IL2RG): c.670C> T (p.Arg224Trp) single nucleotide variant Pathogenic rs869320658 GRCh37 Chromosome X, 70329165: 70329165
39 IL2RG NM_000206.2(IL2RG): c.670C> T (p.Arg224Trp) single nucleotide variant Pathogenic rs869320658 GRCh38 Chromosome X, 71109315: 71109315
40 IL2RG NM_000206.2(IL2RG): c.47T> C (p.Leu16Pro) single nucleotide variant Likely pathogenic rs879253742 GRCh38 Chromosome X, 71111493: 71111493
41 IL2RG NM_000206.2(IL2RG): c.47T> C (p.Leu16Pro) single nucleotide variant Likely pathogenic rs879253742 GRCh37 Chromosome X, 70331343: 70331343
42 IL2RG NM_000206.2(IL2RG): c.270-15A> G single nucleotide variant Pathogenic rs886039387 GRCh37 Chromosome X, 70330553: 70330553
43 IL2RG NM_000206.2(IL2RG): c.270-15A> G single nucleotide variant Pathogenic rs886039387 GRCh38 Chromosome X, 71110703: 71110703
44 IL2RG NM_000206.2(IL2RG): c.758-1G> A single nucleotide variant Pathogenic/Likely pathogenic rs886042051 GRCh37 Chromosome X, 70328546: 70328546
45 IL2RG NM_000206.2(IL2RG): c.758-1G> A single nucleotide variant Pathogenic/Likely pathogenic rs886042051 GRCh38 Chromosome X, 71108696: 71108696
46 IL2RG NM_000206.2(IL2RG): c.325G> A (p.Glu109Lys) single nucleotide variant Benign/Likely benign rs17875899 GRCh37 Chromosome X, 70330483: 70330483
47 IL2RG NM_000206.2(IL2RG): c.325G> A (p.Glu109Lys) single nucleotide variant Benign/Likely benign rs17875899 GRCh38 Chromosome X, 71110633: 71110633
48 IL2RG NM_000206.2(IL2RG): c.202G> A (p.Glu68Lys) single nucleotide variant Pathogenic/Likely pathogenic rs1057520644 GRCh38 Chromosome X, 71110964: 71110964
49 IL2RG NM_000206.2(IL2RG): c.202G> A (p.Glu68Lys) single nucleotide variant Pathogenic/Likely pathogenic rs1057520644 GRCh37 Chromosome X, 70330814: 70330814
50 IL2RG NM_000206.2(IL2RG): c.982C> T (p.Arg328Ter) single nucleotide variant Likely pathogenic rs1064793347 GRCh38 Chromosome X, 71107864: 71107864

Expression for Severe Combined Immunodeficiency, X-Linked

Search GEO for disease gene expression data for Severe Combined Immunodeficiency, X-Linked.

Pathways for Severe Combined Immunodeficiency, X-Linked

Pathways related to Severe Combined Immunodeficiency, X-Linked according to GeneCards Suite gene sharing:

(show all 46)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.82 IL2 IL2RG IL4 IL7 IL7R IL9
2
Show member pathways
13.7 IL2 IL21 IL2RG IL4 IL7 IL7R
3
Show member pathways
13.48 IL2 IL21 IL2RG IL4 IL7 IL7R
4
Show member pathways
13.4 IL2 IL2RG IL4 IL7 IL7R IL9
5
Show member pathways
13.2 IL2 IL2RG IL4 IL7 IL7R IL9
6
Show member pathways
13.18 IL2 IL21 IL2RG IL4 IL7 IL7R
7
Show member pathways
13.13 IL2 IL21 IL2RG IL4 IL7 IL7R
8
Show member pathways
12.87 IL2 IL2RG IL4 IL7 IL7R JAK3
9
Show member pathways
12.72 IL2 IL21 IL4 IL9
10 12.71 IL2 IL2RG IL4 IL7 IL7R JAK3
11
Show member pathways
12.51 IL2 IL21 IL2RG IL4 JAK3
12
Show member pathways
12.45 IL2 IL2RG IL4 JAK3
13 12.39 IL2 IL4 JAK3
14
Show member pathways
12.27 IL2 IL4 IL9
15
Show member pathways
12.24 IL2RG IL4 JAK3
16
Show member pathways
12.23 IL2 IL21 IL2RG IL4 IL7 IL7R
17 12.2 IL2 IL2RG JAK3
18
Show member pathways
12.08 IL2 IL4 IL9
19
Show member pathways
12.03 IL2 IL2RG JAK3
20
Show member pathways
12.01 IL2 IL21 IL2RG JAK3
21
Show member pathways
11.97 IL2 IL2RG JAK3
22
Show member pathways
11.95 IL2 IL2RG IL4 IL7 IL7R IL9
23 11.93 IL2 IL4 IL7 IL7R
24 11.89 IL2RG IL4 JAK3
25
Show member pathways
11.88 IL2 IL2RG IL4
26
Show member pathways
11.86 IL2 IL2RG JAK3
27 11.83 IL2 IL21 IL7R JAK3
28 11.81 IL4 IL7 IL7R
29
Show member pathways
11.79 IL21 IL2RG JAK3
30
Show member pathways
11.62 IL2 IL2RG IL4 JAK3
31 11.62 IL2 IL4 IL7 IL7R IL9
32 11.61 IL2RG IL4 JAK3
33
Show member pathways
11.59 IL2 IL21 IL2RG IL4 IL7 IL7R
34 11.42 IL21 IL7R
35
Show member pathways
11.32 IL2RG IL7 IL7R IL9 JAK3
36 11.31 IL2 IL2RG IL4
37 11.29 IL4 IL7 IL9
38 11.27 ADA IL2RG IL7R JAK3
39 11.24 IL2 IL4 IL7
40 11.22 IL2 IL2RG IL4 IL9 JAK3
41 11.19 IL2 IL4 IL9
42 11.16 IL4 JAK3
43
Show member pathways
11.14 IL2 IL2RG JAK3
44 11.12 IL2RG IL7 IL7R JAK3
45 11.11 IL2 IL21 IL4 IL7 IL9
46 10.93 IL2 IL21 IL4 IL7 IL9

GO Terms for Severe Combined Immunodeficiency, X-Linked

Cellular components related to Severe Combined Immunodeficiency, X-Linked according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 9.43 IL2 IL21 IL4 IL7 IL7R IL9
2 extracellular space GO:0005615 9.1 ADA IL2 IL21 IL4 IL7 IL9

Biological processes related to Severe Combined Immunodeficiency, X-Linked according to GeneCards Suite gene sharing:

(show all 24)
# Name GO ID Score Top Affiliating Genes
1 negative regulation of apoptotic process GO:0043066 9.9 ADA IL2 IL4 IL7
2 positive regulation of cell proliferation GO:0008284 9.89 IL2 IL21 IL7 IL7R IL9
3 regulation of signaling receptor activity GO:0010469 9.88 IL2 IL21 IL4 IL7 IL9
4 MAPK cascade GO:0000165 9.78 IL2 IL2RG JAK3
5 positive regulation of T cell proliferation GO:0042102 9.73 IL2 IL21 IL4 JAK3
6 cytokine-mediated signaling pathway GO:0019221 9.73 IL2 IL2RG IL4 IL7 IL7R JAK3
7 positive regulation of tyrosine phosphorylation of STAT protein GO:0042531 9.7 IL2 IL21 IL4
8 interleukin-2-mediated signaling pathway GO:0038110 9.63 IL2 IL2RG JAK3
9 T cell activation GO:0042110 9.62 ADA IL4
10 interleukin-7-mediated signaling pathway GO:0038111 9.62 IL2RG IL7 IL7R JAK3
11 T cell differentiation GO:0030217 9.61 IL2 IL7R
12 interleukin-15-mediated signaling pathway GO:0035723 9.59 IL2RG JAK3
13 positive regulation of interleukin-17 production GO:0032740 9.58 IL2 IL21
14 positive regulation of isotype switching to IgG isotypes GO:0048304 9.58 IL2 IL4
15 interleukin-9-mediated signaling pathway GO:0038113 9.58 IL2RG IL9 JAK3
16 positive regulation of T cell differentiation in thymus GO:0033089 9.57 ADA IL7R
17 tyrosine phosphorylation of STAT protein GO:0007260 9.56 IL21 JAK3
18 negative regulation of thymocyte apoptotic process GO:0070244 9.55 ADA JAK3
19 positive regulation of tissue remodeling GO:0034105 9.54 IL2 IL21
20 interleukin-21-mediated signaling pathway GO:0038114 9.54 IL21 IL2RG JAK3
21 interleukin-4-mediated signaling pathway GO:0035771 9.51 IL2RG JAK3
22 immune response GO:0006955 9.5 IL2 IL21 IL2RG IL4 IL7 IL7R
23 positive regulation of T cell differentiation GO:0045582 9.46 ADA IL2 IL4 IL7
24 positive regulation of B cell proliferation GO:0030890 9.02 ADA IL2 IL21 IL4 IL7

Molecular functions related to Severe Combined Immunodeficiency, X-Linked according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 growth factor activity GO:0008083 9.56 IL2 IL4 IL7 IL9
2 Ras guanyl-nucleotide exchange factor activity GO:0005088 9.54 IL2 IL2RG JAK3
3 cytokine receptor activity GO:0004896 9.4 IL2RG IL7R
4 cytokine activity GO:0005125 9.35 IL2 IL21 IL4 IL7 IL9
5 interleukin-2 receptor binding GO:0005134 9.32 IL2 IL21
6 interleukin-7 receptor activity GO:0004917 9.16 IL2RG IL7R
7 cytokine receptor binding GO:0005126 8.92 IL21 IL4 IL7 IL9

Sources for Severe Combined Immunodeficiency, X-Linked

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