CIDX
MCID: CMB081
MIFTS: 39

Combined Immunodeficiency, X-Linked (CIDX)

Categories: Genetic diseases, Immune diseases

Aliases & Classifications for Combined Immunodeficiency, X-Linked

MalaCards integrated aliases for Combined Immunodeficiency, X-Linked:

Name: Combined Immunodeficiency, X-Linked 57 29 6
Combined Immunodeficiency, X-Linked, Moderate 57 29 13
X-Linked Combined Immunodeficiency Diseases 6 17 70
Xcid 57 72
Immunodeficiency, Combined, X-Linked 39
X-Linked Combined Immunodeficiency 72
Combined Immunodeficiency 70
Immunodeficiency 6; Imd6 57
Immunodeficiency 6 57
Cidx 57
Imd6 57

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
x-linked recessive

Miscellaneous:
reduced life expectancy


HPO:

31
combined immunodeficiency, x-linked:
Inheritance x-linked recessive inheritance


Classifications:



External Ids:

OMIM® 57 312863
OMIM Phenotypic Series 57 PS300755
UMLS 70 C0494261 C1279481

Summaries for Combined Immunodeficiency, X-Linked

UniProtKB/Swiss-Prot : 72 X-linked combined immunodeficiency: Less severe form of X-linked immunodeficiency with a less severe degree of deficiency in cellular and humoral immunity than that seen in XSCID.

MalaCards based summary : Combined Immunodeficiency, X-Linked, also known as combined immunodeficiency, x-linked, moderate, is related to severe combined immunodeficiency, x-linked and immunodeficiency, common variable, 6. An important gene associated with Combined Immunodeficiency, X-Linked is IL2RG (Interleukin 2 Receptor Subunit Gamma). The drugs Adenosine and Immunoglobulin G have been mentioned in the context of this disorder. Affiliated tissues include bone marrow, bone and t cells, and related phenotypes are sinusitis and otitis media

More information from OMIM: 312863 PS300755

Related Diseases for Combined Immunodeficiency, X-Linked

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

(show all 12)
# Related Disease Score Top Affiliating Genes
1 severe combined immunodeficiency, x-linked 11.9
2 immunodeficiency, common variable, 6 11.2
3 otitis media 10.0
4 immune deficiency disease 10.0
5 human papillomavirus infectious disease 10.0
6 allergic disease 10.0
7 bronchitis 10.0
8 reactive arthritis 10.0
9 chickenpox 10.0
10 bronchiectasis 10.0
11 combined immunodeficiency 9.9
12 severe combined immunodeficiency 9.9

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



Diseases related to Combined Immunodeficiency, X-Linked

Symptoms & Phenotypes for Combined Immunodeficiency, X-Linked

Human phenotypes related to Combined Immunodeficiency, X-Linked:

31 (show all 8)
# Description HPO Frequency HPO Source Accession
1 sinusitis 31 HP:0000246
2 otitis media 31 HP:0000388
3 pneumonia 31 HP:0002090
4 decreased circulating igg level 31 HP:0004315
5 recurrent bronchitis 31 HP:0002837
6 decreased proportion of cd8-positive t cells 31 HP:0005415
7 combined immunodeficiency 31 HP:0005387
8 decreased proportion of cd4-positive helper t cells 31 HP:0005407

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Head And Neck Head:
sinusitis

Respiratory Lung:
pneumonia

Laboratory Abnormalities:
reduced igg levels

Head And Neck Ears:
otitis media

Respiratory Airways:
bronchitis

Immunology:
normal number of natural killer cells
normal number of b cells
paucity of lymphoid tissue
decreased number of cd4+ t cells
decreased number of cd8+ t cells
more

Clinical features from OMIM®:

312863 (Updated 20-May-2021)

Drugs & Therapeutics for Combined Immunodeficiency, X-Linked

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

(show top 50) (show all 78)
# 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 Rho(D) Immune Globulin Phase 3
4 Immunoglobulins, Intravenous Phase 3
5 gamma-Globulins Phase 3
6
Mycophenolic acid Approved Phase 2 24280-93-1 446541
7
Mechlorethamine Approved, Investigational Phase 2 51-75-2 4033
8
Tacrolimus Approved, Investigational Phase 2 104987-11-3 445643 439492 6473866
9
Busulfan Approved, Investigational Phase 2 55-98-1 2478
10
Fludarabine Approved Phase 1, Phase 2 21679-14-1, 75607-67-9 30751
11
alemtuzumab Approved, Investigational Phase 2 216503-57-0
12
Thiotepa Approved, Investigational Phase 1, Phase 2 52-24-4 5453
13
Melphalan Approved Phase 2 148-82-3 4053 460612
14
Mecasermin Approved, Investigational Phase 1, Phase 2 68562-41-4
15
Lenograstim Approved, Investigational Phase 2 135968-09-1
16
Phenylalanine Approved, Investigational, Nutraceutical Phase 2 63-91-2 6140
17 Antitubercular Agents Phase 2
18 Immunosuppressive Agents Phase 2
19 Alkylating Agents Phase 2
20 Immunologic Factors Phase 2
21 Thymoglobulin Phase 1, Phase 2
22 Mitogens Phase 1, Phase 2
23 Hormones Phase 1, Phase 2
24 insulin Phase 1, Phase 2
25 Insulin, Globin Zinc Phase 1, Phase 2
26 Cyclosporins Phase 2
27 Antineoplastic Agents, Immunological Phase 1, Phase 2
28 Antibodies, Monoclonal Phase 1, Phase 2
29 Adjuvants, Immunologic Phase 2
30 Anti-Retroviral Agents Phase 2
31 Plerixafor octahydrochloride Phase 2
32 Antiviral Agents Phase 2
33 Anti-HIV Agents Phase 2
34
Zidovudine Approved Phase 1 30516-87-1 35370
35 Calcineurin Inhibitors Phase 1
36 Reverse Transcriptase Inhibitors Phase 1
37 Immunoglobulins Phase 1
38 Antibodies Phase 1
39
Mesna Approved, Investigational 3375-50-6 598
40
Vidarabine Approved, Investigational 24356-66-9 32326 21704
41
tannic acid Approved 1401-55-4
42
Benzocaine Approved, Investigational 1994-09-7, 94-09-7 2337
43
Methotrexate Approved 1959-05-2, 59-05-2 126941
44
Levoleucovorin Approved, Investigational 68538-85-2 149436
45
Cyclophosphamide Approved, Investigational 50-18-0, 6055-19-2 2907
46
Methylprednisolone Approved, Vet_approved 83-43-2 6741
47
Methylprednisolone hemisuccinate Approved 2921-57-5
48
Prednisolone Approved, Vet_approved 50-24-8 5755
49
Prednisolone acetate Approved, Vet_approved 52-21-1
50
Prednisone Approved, Vet_approved 53-03-2 5865

Interventional clinical trials:

(show top 50) (show all 69)
# 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 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
3 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
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 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
8 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
9 Phase I Gene Therapy Protocol for Adenosine Deaminase Deficiency Completed NCT01279720 Phase 1, Phase 2
10 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
11 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
12 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
13 Cord Blood Stem Cell Transplantation Study (COBLT) Completed NCT00000603 Phase 2
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 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
17 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
18 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
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 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
22 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
23 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
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 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 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 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
31 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
32 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
33 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
34 Hematopoietic Stem Cells Transplantation in Children With Combined Immunodeficiency (CID): Selective Depletion of Naive Cells From the Graft Terminated NCT02737384 Phase 2
35 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
36 Ex Vivo Retroviral Gene Transfer For Treatment of X-Linked Severe Combined Immunodeficiency (XSCID) Completed NCT00028236 Phase 1 Gene-Transduced Autologous CD34+ Stem Cells
37 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
38 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
39 Transplantation of Highly Purified Haploidentical CD133 Hematopoietic Cells in Children With Severe Combined Immunodeficiency Syndrome Completed NCT00152100 Phase 1 Filgrastim, Alemtuzumab
40 Neurotrophic Effects of Immunophilin Ligands on Human Hair Follicles Grafted Onto Service Combined Immunodeficient (SCID) Mice Completed NCT00177099 Phase 1 FK506, GP11046, GP11511
41 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
42 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
43 Safety and Early Efficacy Study of TBX-1400 in Patients With Severe Combined Immunodeficiency Not yet recruiting NCT02860559 Phase 1
44 Gene Therapy for SCID-X1 Using a Self-inactivating (SIN) Gammaretroviral Vector Unknown status NCT01175239
45 Clinical Characteristics and Genetic Profiles of Severe Combined Immunodeficiency in China Unknown status NCT02231983
46 Newborn Screening for SCID in a High-Risk Population Completed NCT00845416
47 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
48 Decisions of Female Adolescents About Carrier Testing in Families With X-Linked Severe Combined Immunodeficiency (XSCID) Completed NCT00006335
49 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
50 Gene Therapy for X Linked Severe Combined Immunodeficiency Recruiting NCT04286815

Search NIH Clinical Center for Combined Immunodeficiency, X-Linked

Genetic Tests for Combined Immunodeficiency, X-Linked

Genetic tests related to Combined Immunodeficiency, X-Linked:

# Genetic test Affiliating Genes
1 Combined Immunodeficiency, X-Linked 29 IL2RG
2 Combined Immunodeficiency, X-Linked, Moderate 29

Anatomical Context for Combined Immunodeficiency, X-Linked

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

40
Bone Marrow, Bone, T Cells, B Cells, Thymus, Skin

Publications for Combined Immunodeficiency, X-Linked

Articles related to Combined Immunodeficiency, X-Linked:

(show top 50) (show all 59)
# Title Authors PMID Year
1
An interleukin-2 receptor gamma chain mutation with normal thymus morphology. 6 57
9399950 1997
2
Missense mutation in exon 7 of the common gamma chain gene causes a moderate form of X-linked combined immunodeficiency. 57 6
7883965 1995
3
[Clinical features and gene mutations of primary immunodeficiency disease: an analysis of 7 cases]. 6
29658452 2018
4
Family History of Early Infant Death Correlates with Earlier Age at Diagnosis But Not Shorter Time to Diagnosis for Severe Combined Immunodeficiency. 6
28747913 2017
5
Faster T-cell development following gene therapy compared with haploidentical HSCT in the treatment of SCID-X1. 6
25869287 2015
6
Successful treatment for West syndrome with severe combined immunodeficiency. 6
24534054 2015
7
Massively parallel sequencing reveals maternal somatic IL2RG mosaicism in an X-linked severe combined immunodeficiency family. 6
23683512 2013
8
Laboratory evaluation for T-cell dysfunction. 6
23374275 2013
9
IL-21 is the primary common γ chain-binding cytokine required for human B-cell differentiation in vivo. 6
22039266 2011
10
Molecular diagnosis of severe combined immunodeficiency--identification of IL2RG, JAK3, IL7R, DCLRE1C, RAG1, and RAG2 mutations in a cohort of Chinese and Southeast Asian children. 6
21184155 2011
11
A mutation in the IL-2 receptor gamma chain gene associated with X-linked severe combined immunodeficiency accompanying opisthotonus. 6
19398866 2009
12
Clinical and immunologic consequences of a somatic reversion in a patient with X-linked severe combined immunodeficiency. 6
18728247 2008
13
Tumor immune surveillance defect of X-linked severe combined immunodeficiency is not Epstein-Barr virus specific. 6
18615703 2008
14
Interleukin-2 receptor gamma chain mutation results in X-linked severe combined immunodeficiency in humans. Cell 73: 147-157. 1993. 6
18941169 2008
15
Mutations causing severe combined immunodeficiency: detection with a custom resequencing microarray. 6
18641513 2008
16
Skin infiltration of CD56(bright) CD16(-) natural killer cells in a case of X-SCID with Omenn syndrome-like manifestations. 6
17598841 2007
17
Using model proteins to quantify the effects of pathogenic mutations in Ig-like proteins. 6
16760466 2006
18
X-linked severe combined immunodeficiency syndrome: the first Korean case with gamma c chain gene mutation and subsequent genetic counseling. 6
14966353 2004
19
Context of deletions and insertions in human coding sequences. 6
14722921 2004
20
Retroviral transduction of IL2RG into CD34(+) cells from X-linked severe combined immunodeficiency patients permits human T- and B-cell development in sheep chimeras. 6
12070011 2002
21
Immune consequences of mutations in the human common gamma-chain gene. 6
12126929 2002
22
Of genes and phenotypes: the immunological and molecular spectrum of combined immune deficiency. Defects of the gamma(c)-JAK3 signaling pathway as a model. 6
11213805 2000
23
Characterization of the gammac chain among 27 unrelated Japanese patients with X-linked severe combined immunodeficiency (X-SCID). 6
11129345 2000
24
Development of autologous T lymphocytes in two males with X-linked severe combined immune deficiency: molecular and cellular characterization. 6
10794431 2000
25
Efficient detection of thirty-seven new IL2RG mutations in human X-linked severe combined immunodeficiency. 6
10794430 2000
26
Haemophagocytic lymphohistiocytosis in X-linked severe combined immunodeficiency. 6
10792291 2000
27
Identification of X-linked severe combined immunodeficiency by mutation analysis of blood and hair roots. 6
10444186 1999
28
Functional role of interleukin-4 (IL-4) and IL-7 in the development of X-linked severe combined immunodeficiency. 6
9885222 1999
29
Mutation analysis by a non-radioactive single-strand conformation polymorphism assay in nine families with X-linked severe combined immunodeficiency (SCIDX1). 6
9633906 1998
30
B-cell-negative severe combined immunodeficiency associated with a common gamma chain mutation. 6
9150740 1997
31
Mutation analysis of IL2RG in human X-linked severe combined immunodeficiency. 6
9058718 1997
32
Maternal mosaicism for a novel interleukin-2 receptor gamma-chain mutation causing X-linked severe combined immunodeficiency in a Navajo kindred. 6
9049783 1997
33
Atypical X-linked severe combined immunodeficiency due to possible spontaneous reversion of the genetic defect in T cells. 6
8900089 1996
34
IL2RGbase: a database of gamma c-chain defects causing human X-SCID. 6
8961626 1996
35
T-lymphocyte differentiation and proliferation in the absence of the cytoplasmic tail of the common cytokine receptor gamma c chain in a severe combined immune deficiency X1 patient. 6
8781427 1996
36
Signal transduction pathway of interleukin-4 and interleukin-13 in human B cells derived from X-linked severe combined immunodeficiency patients. 6
8557662 1996
37
Three novel mutations in the interleukin-2 receptor gamma chain gene in four Japanese patients with X-linked severe combined immunodeficiency. 6
8522327 1995
38
Screening for mutations causing X-linked severe combined immunodeficiency in the IL-2R gamma chain gene by single-strand conformation polymorphism analysis. 6
7557965 1995
39
Two mutational hotspots in the interleukin-2 receptor gamma chain gene causing human X-linked severe combined immunodeficiency. 6
7668284 1995
40
Characterization of B-cell lines established from two X-linked severe combined immunodeficiency patients: interleukin-15 binds to the B cells but is not internalized efficiently. 6
7632950 1995
41
Female germ line mosaicism as the origin of a unique IL-2 receptor gamma-chain mutation causing X-linked severe combined immunodeficiency. 6
7860773 1995
42
Functional activation of Jak1 and Jak3 by selective association with IL-2 receptor subunits. 6
7973659 1994
43
Interaction of IL-2R beta and gamma c chains with Jak1 and Jak3: implications for XSCID and XCID. 6
7973658 1994
44
Impairment of ligand binding and growth signaling of mutant IL-2 receptor gamma-chains in patients with X-linked severe combined immunodeficiency. 6
8027558 1994
45
Detection of three nonsense mutations and one missense mutation in the interleukin-2 receptor gamma chain gene in SCIDX1 that differently affect the mRNA processing. 6
8088810 1994
46
The interleukin-2 receptor gamma chain maps to Xq13.1 and is mutated in X-linked severe combined immunodeficiency, SCIDX1. 6
8401490 1993
47
Reconstitution of functional interleukin 2 receptor complexes on fibroblastoid cells: involvement of the cytoplasmic domain of the gamma chain in two distinct signaling pathways. 6
7683423 1993
48
Interleukin-2 receptor gamma chain mutation results in X-linked severe combined immunodeficiency in humans. 6
8462096 1993
49
A novel X-linked combined immunodeficiency disease. 57
2243135 1990
50
Structural design and molecular evolution of a cytokine receptor superfamily. 6
2169613 1990

Variations for Combined Immunodeficiency, X-Linked

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

6 (show top 50) (show all 130)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 IL2RG NM_000206.2(IL2RG):c.355A>T (p.Lys119Ter) SNV Pathogenic 10016 rs137852507 GRCh37: X:70330453-70330453
GRCh38: X:71110603-71110603
2 IL2RG IL2RG, ARG267TER SNV Pathogenic 10017 GRCh37:
GRCh38:
3 IL2RG NM_000206.2(IL2RG):c.923C>A (p.Ser308Ter) SNV Pathogenic 10018 rs137852509 GRCh37: X:70328128-70328128
GRCh38: X:71108278-71108278
4 IL2RG NM_000206.2(IL2RG):c.186T>A (p.Cys62Ter) SNV Pathogenic 10019 rs111033619 GRCh37: X:70330830-70330830
GRCh38: X:71110980-71110980
5 IL2RG NM_000206.2(IL2RG):c.341G>A (p.Gly114Asp) SNV Pathogenic 10020 rs111033620 GRCh37: X:70330467-70330467
GRCh38: X:71110617-71110617
6 IL2RG NM_000206.2(IL2RG):c.454+1G>A SNV Pathogenic 10021 rs1569480018 GRCh37: X:70330353-70330353
GRCh38: X:71110503-71110503
7 IL2RG NM_000206.2(IL2RG):c.458T>A (p.Ile153Asn) SNV Pathogenic 10022 rs111033621 GRCh37: X:70330142-70330142
GRCh38: X:71110292-71110292
8 IL2RG NM_000206.2(IL2RG):c.703_711dup (p.Gln235_Trp237dup) Duplication Pathogenic 10024 rs587776729 GRCh37: X:70329123-70329124
GRCh38: X:71109273-71109274
9 IL2RG NM_000206.2(IL2RG):c.343T>C (p.Cys115Arg) SNV Pathogenic 10025 rs111033622 GRCh37: X:70330465-70330465
GRCh38: X:71110615-71110615
10 IL2RG NM_000206.2(IL2RG):c.452T>C (p.Leu151Pro) SNV Pathogenic 10028 rs137852511 GRCh37: X:70330356-70330356
GRCh38: X:71110506-71110506
11 IL2RG NM_000206.2(IL2RG):c.602C>G (p.Ser201Ter) SNV Pathogenic 463382 rs1556330286 GRCh37: X:70329233-70329233
GRCh38: X:71109383-71109383
12 IL2RG NM_000206.2(IL2RG):c.100G>T (p.Glu34Ter) SNV Pathogenic 463378 rs1556331272 GRCh37: X:70331290-70331290
GRCh38: X:71111440-71111440
13 IL2RG NM_000206.2(IL2RG):c.720G>A (p.Trp240Ter) SNV Pathogenic 463384 rs1556330234 GRCh37: X:70329115-70329115
GRCh38: X:71109265-71109265
14 IL2RG NM_000206.2(IL2RG):c.903_910del (p.Glu302fs) Deletion Pathogenic 463387 rs1556329779 GRCh37: X:70328141-70328148
GRCh38: X:71108291-71108298
15 IL2RG NM_000206.2(IL2RG):c.455T>G (p.Val152Gly) SNV Pathogenic 624584 rs193922348 GRCh37: X:70330145-70330145
GRCh38: X:71110295-71110295
16 IL2RG NM_000206.3(IL2RG):c.294del (p.Val99fs) Deletion Pathogenic 858175 GRCh37: X:70330514-70330514
GRCh38: X:71110664-71110664
17 IL2RG NM_000206.2(IL2RG):c.594+2_594+3del Microsatellite Pathogenic 643411 rs1602289183 GRCh37: X:70330003-70330004
GRCh38: X:71110153-71110154
18 IL2RG NM_000206.2(IL2RG):c.87del (p.Asn31fs) Deletion Pathogenic 619010 rs1602289943 GRCh37: X:70331303-70331303
GRCh38: X:71111453-71111453
19 IL2RG NM_000206.2(IL2RG):c.430C>T (p.Gln144Ter) SNV Pathogenic 649486 rs1602289411 GRCh37: X:70330378-70330378
GRCh38: X:71110528-71110528
20 IL2RG NM_000206.3(IL2RG):c.207C>A (p.Tyr69Ter) SNV Pathogenic 941327 GRCh37: X:70330809-70330809
GRCh38: X:71110959-71110959
21 IL2RG NM_000206.3(IL2RG):c.455-2A>C SNV Pathogenic 947759 GRCh37: X:70330147-70330147
GRCh38: X:71110297-71110297
22 IL2RG NM_000206.3(IL2RG):c.550G>T (p.Glu184Ter) SNV Pathogenic 951211 GRCh37: X:70330050-70330050
GRCh38: X:71110200-71110200
23 IL2RG NM_000206.3(IL2RG):c.603_604del (p.Val202fs) Deletion Pathogenic 957973 GRCh37: X:70329231-70329232
GRCh38: X:71109381-71109382
24 IL2RG NM_000206.2(IL2RG):c.522G>A (p.Trp174Ter) SNV Pathogenic 532189 rs1556330568 GRCh37: X:70330078-70330078
GRCh38: X:71110228-71110228
25 IL2RG NM_000206.2(IL2RG):c.548del (p.Leu183fs) Deletion Pathogenic 532190 rs1556330562 GRCh37: X:70330052-70330052
GRCh38: X:71110202-71110202
26 IL2RG NM_000206.3(IL2RG):c.147_169dup (p.Leu57fs) Duplication Pathogenic 943308 GRCh37: X:70330846-70330847
GRCh38: X:71110996-71110997
27 IL2RG NM_000206.2(IL2RG):c.956_957AG[1] (p.Leu321fs) Microsatellite Pathogenic 658867 rs1602288051 GRCh37: X:70327737-70327738
GRCh38: X:71107887-71107888
28 IL2RG NC_000023.11:g.(?_71108277)_(71108346_?)del Deletion Pathogenic 463377 GRCh37: X:70328127-70328196
GRCh38: X:71108277-71108346
29 IL2RG NM_000206.2(IL2RG):c.270G>A (p.Trp90Ter) SNV Pathogenic 569485 rs1569480047 GRCh37: X:70330538-70330538
GRCh38: X:71110688-71110688
30 IL2RG NM_000206.2(IL2RG):c.421C>T (p.Gln141Ter) SNV Pathogenic 449330 rs1556330713 GRCh37: X:70330387-70330387
GRCh38: X:71110537-71110537
31 IL2RG NM_000206.3(IL2RG):c.225_226insTGCT (p.Ser76delinsCysTer) Insertion Pathogenic 817464 rs1602289631 GRCh37: X:70330790-70330791
GRCh38: X:71110940-71110941
32 IL2RG NM_000206.2(IL2RG):c.703C>T (p.Gln235Ter) SNV Pathogenic 503682 rs1556330249 GRCh37: X:70329132-70329132
GRCh38: X:71109282-71109282
33 IL2RG NM_000206.2(IL2RG):c.878T>A (p.Leu293Gln) SNV Pathogenic 10023 rs137852510 GRCh37: X:70328173-70328173
GRCh38: X:71108323-71108323
34 IL2RG NM_000206.2(IL2RG):c.664C>T (p.Arg222Cys) SNV Pathogenic 10027 rs111033618 GRCh37: X:70329171-70329171
GRCh38: X:71109321-71109321
35 IL2RG NM_000206.2(IL2RG):c.878T>A (p.Leu293Gln) SNV Pathogenic 10023 rs137852510 GRCh37: X:70328173-70328173
GRCh38: X:71108323-71108323
36 IL2RG NM_000206.2(IL2RG):c.982C>T (p.Arg328Ter) SNV Pathogenic 418656 rs1064793347 GRCh37: X:70327714-70327714
GRCh38: X:71107864-71107864
37 IL2RG NM_000206.2(IL2RG):c.202G>A (p.Glu68Lys) SNV Pathogenic 379561 rs1057520644 GRCh37: X:70330814-70330814
GRCh38: X:71110964-71110964
38 IL2RG NM_000206.2(IL2RG):c.270-15A>G SNV Pathogenic 265194 rs886039387 GRCh37: X:70330553-70330553
GRCh38: X:71110703-71110703
39 IL2RG NM_000206.2(IL2RG):c.758-1G>A SNV Pathogenic 280937 rs886042051 GRCh37: X:70328546-70328546
GRCh38: X:71108696-71108696
40 IL2RG NM_000206.2(IL2RG):c.854G>A (p.Arg285Gln) SNV Pathogenic 10026 rs111033617 GRCh37: X:70328449-70328449
GRCh38: X:71108599-71108599
41 IL2RG NM_000206.2(IL2RG):c.865C>T (p.Arg289Ter) SNV Pathogenic 36389 rs137852508 GRCh37: X:70328186-70328186
GRCh38: X:71108336-71108336
42 IL2RG NM_000206.2(IL2RG):c.670C>T (p.Arg224Trp) SNV Pathogenic 225194 rs869320658 GRCh37: X:70329165-70329165
GRCh38: X:71109315-71109315
43 IL2RG NM_000206.2(IL2RG):c.676C>T (p.Arg226Cys) SNV Pathogenic 225195 rs869320659 GRCh37: X:70329159-70329159
GRCh38: X:71109309-71109309
44 IL2RG NM_000206.2(IL2RG):c.677G>A (p.Arg226His) SNV Pathogenic 225196 rs869320660 GRCh37: X:70329158-70329158
GRCh38: X:71109308-71109308
45 IL2RG NM_000206.2(IL2RG):c.562C>T (p.Gln188Ter) SNV Pathogenic 463379 rs1556330552 GRCh37: X:70330038-70330038
GRCh38: X:71110188-71110188
46 IL2RG NM_000206.2(IL2RG):c.676C>T (p.Arg226Cys) SNV Pathogenic 225195 rs869320659 GRCh37: X:70329159-70329159
GRCh38: X:71109309-71109309
47 IL2RG NM_000206.2(IL2RG):c.676C>T (p.Arg226Cys) SNV Pathogenic 225195 rs869320659 GRCh37: X:70329159-70329159
GRCh38: X:71109309-71109309
48 IL2RG NM_000206.2(IL2RG):c.670C>T (p.Arg224Trp) SNV Pathogenic 225194 rs869320658 GRCh37: X:70329165-70329165
GRCh38: X:71109315-71109315
49 IL2RG NM_000206.2(IL2RG):c.455T>C (p.Val152Ala) SNV Pathogenic/Likely pathogenic 36386 rs193922348 GRCh37: X:70330145-70330145
GRCh38: X:71110295-71110295
50 IL2RG NM_000206.3(IL2RG):c.374A>G (p.Tyr125Cys) SNV Likely pathogenic 992514 GRCh37: X:70330434-70330434
GRCh38: X:71110584-71110584

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

72
# Symbol AA change Variation ID SNP ID
1 IL2RG p.Arg222Cys VAR_002688 rs111033618
2 IL2RG p.Leu293Gln VAR_002702 rs137852510

Expression for Combined Immunodeficiency, X-Linked

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

Pathways for Combined Immunodeficiency, X-Linked

GO Terms for Combined Immunodeficiency, X-Linked

Sources for Combined Immunodeficiency, X-Linked

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