CIDX
MCID: CMB081
MIFTS: 36

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 56 29 6
Combined Immunodeficiency, X-Linked, Moderate 56 29 13
Xcid 56 73
X-Linked Combined Immunodeficiency Diseases 71
Immunodeficiency, Combined, X-Linked 39
X-Linked Combined Immunodeficiency 73
Combined Immunodeficiency 71
Immunodeficiency 6; Imd6 56
Immunodeficiency 6 56
Cidx 56
Imd6 56

Characteristics:

OMIM:

56
Inheritance:
x-linked recessive

Miscellaneous:
reduced life expectancy


HPO:

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


Classifications:



External Ids:

OMIM 56 312863
OMIM Phenotypic Series 56 PS300755
ICD10 32 D81 D81.9
UMLS 71 C0494261 C1279481

Summaries for Combined Immunodeficiency, X-Linked

UniProtKB/Swiss-Prot : 73 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 50. An important gene associated with Combined Immunodeficiency, X-Linked is IL2RG (Interleukin 2 Receptor Subunit Gamma). The drugs Adenosine and Rho(D) Immune Globulin have been mentioned in the context of this disorder. Affiliated tissues include bone, bone marrow 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 14)
# Related Disease Score Top Affiliating Genes
1 severe combined immunodeficiency, x-linked 13.1
2 immunodeficiency 50 11.5
3 immunodeficiency, common variable, 6 11.3
4 severe combined immunodeficiency 10.3
5 immune deficiency disease 10.1
6 otitis media 10.0
7 graft-versus-host disease 10.0
8 lymphoproliferative syndrome 10.0
9 bacterial infectious disease 10.0
10 allergic hypersensitivity disease 10.0
11 bronchitis 10.0
12 reactive arthritis 10.0
13 chickenpox 10.0
14 bronchiectasis 10.0

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:

56
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

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 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
Thiotepa Approved, Investigational Phase 1, Phase 2 52-24-4 5453
12
Ezetimibe Approved Phase 2 163222-33-1 150311
13
Busulfan Approved, Investigational Phase 2 55-98-1 2478
14
Mecasermin Approved, Investigational Phase 1, Phase 2 68562-41-4
15
Lenograstim Approved, Investigational Phase 2 135968-09-1
16
alemtuzumab Approved, Investigational Phase 1, Phase 2 216503-57-0
17
Fludarabine Approved Phase 1, Phase 2 21679-14-1, 75607-67-9 30751
18
Cyclophosphamide Approved, Investigational Phase 2 50-18-0, 6055-19-2 2907
19
Folic acid Approved, Nutraceutical, Vet_approved Phase 2 59-30-3 6037
20
Phenylalanine Approved, Investigational, Nutraceutical Phase 2 63-91-2 6140
21 Vitamin B Complex Phase 2
22 Folic Acid Antagonists Phase 2
23 Folate Phase 2
24 Vitamin B9 Phase 2
25 Micronutrients Phase 2
26 Antidotes Phase 2
27 Vitamins Phase 2
28 Hematinics Phase 2
29 Nutrients Phase 2
30 Trace Elements Phase 2
31 Antimetabolites Phase 2
32 Lipid Regulating Agents Phase 2
33 Hypolipidemic Agents Phase 2
34 Anticholesteremic Agents Phase 2
35 Cyclosporins Phase 2
36 Insulin, Globin Zinc Phase 1, Phase 2
37 Hormones Phase 1, Phase 2
38 Mitogens Phase 1, Phase 2
39 insulin Phase 1, Phase 2
40 Antineoplastic Agents, Immunological Phase 2
41 Anti-HIV Agents Phase 2
42 Adjuvants, Immunologic Phase 2
43 Plerixafor octahydrochloride Phase 2
44 Antiviral Agents Phase 2
45 Anti-Retroviral Agents Phase 2
46 Thymoglobulin Phase 2
47 Antilymphocyte Serum Phase 2
48 Antibodies, Monoclonal 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 89)
# 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 Evaluation of Fludarabine, Busulfan and Alemtuzumab as a Reduced Toxicity Ablative Bone Marrow Stem Cell Transplant Regimen for Children With Stem Cell Defects, Marrow Failure Syndromes, or Myelodysplastic Syndrome (MDS)/Leukemia Completed NCT00301834 Phase 2 busulfan;cyclosporine;fludarabine phosphate;methotrexate;methylprednisolone
17 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
18 Cord Blood Stem Cell Transplantation Study (COBLT) Completed NCT00000603 Phase 2
19 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
20 Phase I/II Trial of Lentiviral Gene Transfer for SCID-X1 With Low Dose Targeted Busulfan Conditioning Recruiting NCT03311503 Phase 1, Phase 2
21 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
22 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
23 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
24 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
25 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
26 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
27 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
28 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
29 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
30 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
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 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
37 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
38 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
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 Hematopoietic Stem Cells Transplantation in Children With Combined Immunodeficiency (CID): Selective Depletion of Naive Cells From the Graft Terminated NCT02737384 Phase 2
41 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
42 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
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 Ex Vivo Retroviral Gene Transfer For Treatment of X-Linked Severe Combined Immunodeficiency (XSCID) Completed NCT00028236 Phase 1 Gene-Transduced Autologous CD34+ Stem Cells
45 Transplantation of Highly Purified Haploidentical CD133 Hematopoietic Cells in Children With Severe Combined Immunodeficiency Syndrome Completed NCT00152100 Phase 1 Filgrastim, Alemtuzumab
46 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
47 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
48 Phase I/II Trial of Recombinant Interleukin-2 In Symptomatic Human Immunodeficiency Virus-Infected Children Completed NCT00000849 Phase 1 Aldesleukin
49 Treatment of EBV, CMV, and Adenovirus Infections in Primary Immunodeficiency Disorders With Viral-specific Cytotoxic T-Lymphocytes Completed NCT02510404 Phase 1
50 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

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, Bone Marrow, T Cells, Lung, Skin, B Cells, Lymph Node

Publications for Combined Immunodeficiency, X-Linked

Articles related to Combined Immunodeficiency, X-Linked:

(show all 26)
# Title Authors PMID Year
1
An interleukin-2 receptor gamma chain mutation with normal thymus morphology. 56 6
9399950 1997
2
Missense mutation in exon 7 of the common gamma chain gene causes a moderate form of X-linked combined immunodeficiency. 6 56
7883965 1995
3
Clinical and immunologic consequences of a somatic reversion in a patient with X-linked severe combined immunodeficiency. 6
18728247 2008
4
Interleukin-2 receptor gamma chain mutation results in X-linked severe combined immunodeficiency in humans. Cell 73: 147-157. 1993. 6
18941169 2008
5
X-Linked Severe Combined Immunodeficiency 6
20301584 2003
6
Identification of X-linked severe combined immunodeficiency by mutation analysis of blood and hair roots. 6
10444186 1999
7
B-cell-negative severe combined immunodeficiency associated with a common gamma chain mutation. 6
9150740 1997
8
IL2RGbase: a database of gamma c-chain defects causing human X-SCID. 6
8961626 1996
9
Atypical X-linked severe combined immunodeficiency due to possible spontaneous reversion of the genetic defect in T cells. 6
8900089 1996
10
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
11
Signal transduction pathway of interleukin-4 and interleukin-13 in human B cells derived from X-linked severe combined immunodeficiency patients. 6
8557662 1996
12
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
13
Two mutational hotspots in the interleukin-2 receptor gamma chain gene causing human X-linked severe combined immunodeficiency. 6
7668284 1995
14
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
15
The interleukin-2 receptor gamma chain maps to Xq13.1 and is mutated in X-linked severe combined immunodeficiency, SCIDX1. 6
8401490 1993
16
Interleukin-2 receptor gamma chain mutation results in X-linked severe combined immunodeficiency in humans. 6
8462096 1993
17
A novel X-linked combined immunodeficiency disease. 56
2243135 1990
18
Epstein-Barr virus-associated B-cell proliferations of diverse clonal origins after bone marrow transplantation in a 12-year-old patient with severe combined immunodeficiency. 6
2984567 1985
19
Newborn screening using TREC/KREC assay for severe T and B cell lymphopenia in Iran. 61
29943473 2018
20
Flow cytometry-based diagnosis of primary immunodeficiency diseases. 61
28684198 2018
21
Gene therapy for inherited immunodeficiency. 61
24823313 2014
22
Primary Immunodeficiency May Be Misdiagnosed as Cow's Milk Allergy: Seven Cases Referred to a Tertiary Pediatric Hospital. 61
24198970 2013
23
Invasive fungal infections in congenital immunodeficiencies. 61
20840542 2010
24
New insights and unresolved issues regarding insertional mutagenesis in X-linked SCID gene therapy. 61
17726455 2007
25
The molecular basis of X-linked immunodeficiency disease. 61
1528025 1992
26
X chromosome linked immunodeficiency. 61
1981831 1990

Variations for Combined Immunodeficiency, X-Linked

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

6 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 IL2RG NM_000206.2(IL2RG):c.878T>A (p.Leu293Gln)SNV Pathogenic 10023 rs137852510 X:70328173-70328173 X:71108323-71108323
2 IL2RG NM_000206.2(IL2RG):c.664C>T (p.Arg222Cys)SNV Pathogenic 10027 rs111033618 X:70329171-70329171 X:71109321-71109321
3 IL2RG NM_000206.2(IL2RG):c.676C>T (p.Arg226Cys)SNV Pathogenic 225195 rs869320659 X:70329159-70329159 X:71109309-71109309
4 IL2RG NM_000206.2(IL2RG):c.670C>T (p.Arg224Trp)SNV Pathogenic 225194 rs869320658 X:70329165-70329165 X:71109315-71109315
5 IL2RG NM_000206.2(IL2RG):c.982C>T (p.Arg328Ter)SNV Pathogenic/Likely pathogenic 418656 rs1064793347 X:70327714-70327714 X:71107864-71107864

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

73
# 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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