MCID: CMB081
MIFTS: 64

Combined Immunodeficiency, X-Linked

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 12 29 6 73
Combined Immunodeficiency, X-Linked, Moderate 57 13
Combined T Cell and B Cell Immunodeficiency 12 15
X-Linked Combined Immunodeficiency 12 75
Xcid 57 75
X-Linked Combined Immunodeficiency Diseases 73
Congenital Combined Immunodeficiency 12
Combined Immunodeficiencies 37
Immunodeficiency 6; Imd6 57
Immunodeficiency 6 57
Cidx 57
Imd6 57

Characteristics:

OMIM:

57
Inheritance:
x-linked recessive

Miscellaneous:
reduced life expectancy


HPO:

32
combined immunodeficiency, x-linked:
Inheritance x-linked recessive inheritance


Classifications:



External Ids:

OMIM 57 312863
Disease Ontology 12 DOID:628
ICD10 33 D81 D81.9
ICD9CM 35 279.2
NCIt 50 C27871
SNOMED-CT 68 191003005
KEGG 37 H00093
UMLS 73 C0494261

Summaries for Combined Immunodeficiency, X-Linked

UniProtKB/Swiss-Prot : 75 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, is related to severe combined immunodeficiency, x-linked and lig4 syndrome. An important gene associated with Combined Immunodeficiency, X-Linked is IL2RG (Interleukin 2 Receptor Subunit Gamma), and among its related pathways/superpathways are Primary immunodeficiency and Innate Immune System. The drugs Adenosine and alemtuzumab have been mentioned in the context of this disorder. Affiliated tissues include t cells, bone and bone marrow, and related phenotypes are sinusitis and otitis media

Disease Ontology : 12 A primary immunodeficiency disease that involves multiple components of the immune system, including both humoral immunity and cell-mediated immunity.

Description from OMIM: 312863

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 42)
# Related Disease Score Top Affiliating Genes
1 severe combined immunodeficiency, x-linked 35.0 ADA IL2 IL2RG IL7 IL7R JAK3
2 lig4 syndrome 32.8 DCLRE1C LIG4 PRKDC RAG1 RAG2
3 severe combined immunodeficiency 29.1 ADA DCLRE1C IL2 IL2RG IL7 IL7R
4 immunodeficiency 50 11.2
5 immunodeficiency with hyper-igm, type 3 11.2
6 purine nucleoside phosphorylase deficiency 11.2
7 recombinase activating gene 1 deficiency 11.1 RAG1 RAG2
8 immunodeficiency, common variable, 6 11.0
9 severe combined immunodeficiency, autosomal recessive, t cell-negative, b cell-positive, nk cell-negative 11.0 JAK3 RAG1 RAG2
10 severe combined immunodeficiency with sensitivity to ionizing radiation 11.0 DCLRE1C LIG4
11 immunodeficiency 19 11.0 JAK3 ZAP70
12 bare lymphocyte syndrome, type i 11.0 RFX5 RFXAP ZAP70
13 b cell linker protein deficiency 10.9 IL7 JAK3
14 gastroduodenitis 10.9 CD40LG RAG2
15 thymic dysplasia 10.9 CD40LG IL2RG IL7
16 immune defect due to absence of thymus 10.9 CD40LG IL2 ZAP70
17 t cell deficiency 10.9 IL2 IL7R ZAP70
18 orbital granuloma 10.9 CD34 CD40LG
19 malignant histiocytosis 10.9 DCLRE1C RAG1 RAG2 TFRC
20 progressive multifocal leukoencephalopathy 10.9 CD40LG IL2 RAG1
21 tuberculous empyema 10.8 ADA IL2
22 interleukin-7 receptor alpha deficiency 10.8 IL2RG IL7 IL7R JAK3
23 primary bacterial infectious disease 10.8 ADA CD40LG IL2
24 artemis deficiency 10.8 DCLRE1C LIG4 PRKDC RAG1
25 combined cellular and humoral immune defects with granulomas 10.8 RAG1 RAG2
26 erythema elevatum diutinum 10.8 CD34 CD40LG
27 leukocyte disease 10.8 CD34 CD40LG IL2
28 precursor t-cell acute lymphoblastic leukemia 10.8 CD34 IL2RG IL7
29 hyperimmunoglobulin syndrome 10.8 CD40LG DOCK8
30 acquired immunodeficiency syndrome 10.8 CD34 CD40LG IL2
31 immune system disease 10.7 CD34 CD40LG IL2 TFRC
32 jak3-deficient severe combined immunodeficiency 10.7 IL2 JAK3
33 lymphopenia 10.7 IL2 IL2RG IL7 IL7R RAG1
34 lymphoma, non-hodgkin, familial 10.7 CD34 CD40LG IL2 TFRC
35 myeloma, multiple 10.6 CD34 CD40LG IL2 LIG4
36 hematologic cancer 10.5 ADA CD34 CD40LG IL2 IL7 ZAP70
37 omenn syndrome 10.4 ADA DCLRE1C IL2RG IL7R LIG4 RAG1
38 viral infectious disease 10.4 CD40LG IL2 IL7R
39 human immunodeficiency virus type 1 10.2 ADA IL2 IL7 TFRC
40 celiac disease 1 10.1 CD40LG IL2 TFRC
41 immune deficiency disease 10.0 ADA CD40LG DCLRE1C IL2 IL2RG IL7
42 tuberculoid leprosy 9.6

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

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Head:
sinusitis

Respiratory Lung:
pneumonia

Respiratory Airways:
bronchitis

Head And Neck Ears:
otitis media

Immunology:
decreased number of cd4+ t cells
normal number of natural killer cells
normal number of b cells
paucity of lymphoid tissue
decreased number of cd8+ t cells
more
Laboratory Abnormalities:
reduced igg levels


Clinical features from OMIM:

312863

Human phenotypes related to Combined Immunodeficiency, X-Linked:

32 (show all 8)
# Description HPO Frequency HPO Source Accession
1 sinusitis 32 HP:0000246
2 otitis media 32 HP:0000388
3 pneumonia 32 HP:0002090
4 recurrent bronchitis 32 HP:0002837
5 igg deficiency 32 HP:0004315
6 combined immunodeficiency 32 HP:0005387
7 decreased proportion of cd4-positive t cells 32 HP:0005407
8 decreased proportion of cd8-positive t cells 32 HP:0005415

GenomeRNAi Phenotypes related to Combined Immunodeficiency, X-Linked according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Reduced mammosphere formation GR00396-S 9.23 BCL11B CD34 DCLRE1C JAK3 PRKDC RFXAP

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

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.33 IL7R JAK3 LIG4 PRKDC RAG1 RAG2
2 hematopoietic system MP:0005397 10.3 RAG1 RAG2 TFRC ZAP70 ADA BCL11B
3 endocrine/exocrine gland MP:0005379 10.25 JAK3 LIG4 PRKDC RAG1 RAG2 ZAP70
4 immune system MP:0005387 10.25 ADA BCL11B CD34 CD40LG DCLRE1C DOCK8
5 digestive/alimentary MP:0005381 10.09 JAK3 LIG4 PRKDC RAG1 RAG2 TFRC
6 integument MP:0010771 9.86 BCL11B CD34 CD40LG PRKDC RAG1 RAG2
7 liver/biliary system MP:0005370 9.7 ADA IL2 LIG4 PRKDC RAG1 RAG2
8 neoplasm MP:0002006 9.61 BCL11B CD34 IL2 IL2RG IL7R LIG4
9 respiratory system MP:0005388 9.17 ADA IL2 IL2RG PRKDC RAG1 RAG2

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 113)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Adenosine Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 58-61-7 60961
2
alemtuzumab Approved, Investigational Phase 2, Phase 3,Phase 1,Not Applicable 216503-57-0
3
Busulfan Approved, Investigational Phase 2, Phase 3,Phase 1,Not Applicable 55-98-1 2478
4
Cyclophosphamide Approved, Investigational Phase 2, Phase 3,Not Applicable 50-18-0, 6055-19-2 2907
5
Fludarabine Approved Phase 2, Phase 3,Phase 3,Phase 1,Not Applicable 21679-14-1, 75607-67-9 30751
6
Vidarabine Approved, Investigational Phase 2, Phase 3,Phase 1,Not Applicable 24356-66-9 32326 21704
7 Alkylating Agents Phase 2, Phase 3,Phase 1,Not Applicable
8 Anti-Infective Agents Phase 2, Phase 3,Phase 1,Not Applicable
9 Antimetabolites Phase 2, Phase 3,Phase 1,Not Applicable
10 Antimetabolites, Antineoplastic Phase 2, Phase 3,Phase 1,Not Applicable
11 Antineoplastic Agents, Alkylating Phase 2, Phase 3,Phase 1,Not Applicable
12 Antirheumatic Agents Phase 2, Phase 3,Phase 1,Not Applicable
13 Antiviral Agents Phase 2, Phase 3,Phase 1,Not Applicable
14 Immunosuppressive Agents Phase 2, Phase 3,Phase 1,Not Applicable
15 Pharmaceutical Solutions Phase 2, Phase 3
16 Antibodies Phase 3,Phase 1,Phase 2
17 gamma-Globulins Phase 3
18 Immunoglobulin G Phase 3
19 Immunoglobulins Phase 3,Phase 1,Phase 2
20 Immunoglobulins, Intravenous Phase 3
21 Rho(D) Immune Globulin Phase 3
22
Lenograstim Approved, Investigational Phase 2,Phase 1 135968-09-1
23
Amiloride Approved Phase 2 2016-88-8, 2609-46-3 16231
24
Hydrochlorothiazide Approved, Vet_approved Phase 2 58-93-5 3639
25
Teriparatide Approved, Investigational Phase 2 52232-67-4 16133850
26
Melphalan Approved Phase 2,Not Applicable 148-82-3 4053 460612
27
Thiotepa Approved, Investigational Phase 2 52-24-4 5453
28
Mechlorethamine Approved, Investigational Phase 2 51-75-2 4033
29
Methotrexate Approved Phase 2,Not Applicable 1959-05-2, 59-05-2 126941
30
Mycophenolate mofetil Approved, Investigational Phase 2,Phase 1 128794-94-5 5281078
31
Mycophenolic acid Approved Phase 2,Phase 1 24280-93-1 446541
32
Tacrolimus Approved, Investigational Phase 2 104987-11-3 445643 439492
33
Miconazole Approved, Investigational, Vet_approved Phase 2,Phase 1,Not Applicable 22916-47-8 4189
34
Alfacalcidol Approved, Nutraceutical Phase 2 41294-56-8 5282181
35
Vitamin D Approved, Nutraceutical, Vet_approved Phase 2 1406-16-2
36
Folic Acid Approved, Nutraceutical, Vet_approved Phase 2,Not Applicable 59-30-3 6037
37
leucovorin Approved, Nutraceutical Phase 2,Not Applicable 58-05-9 143 6006
38 Analgesics Phase 2,Phase 1
39 Anti-Arrhythmia Agents Phase 2,Phase 1
40 Neurotransmitter Agents Phase 2,Phase 1
41 Peripheral Nervous System Agents Phase 2,Phase 1,Not Applicable
42 Vasodilator Agents Phase 2,Phase 1
43 Antilymphocyte Serum Phase 1, Phase 2,Not Applicable
44 Antihypertensive Agents Phase 2
45 Bone Density Conservation Agents Phase 2
46 Calcium, Dietary Phase 2
47 diuretics Phase 2
48 Diuretics, Potassium Sparing Phase 2
49 Hydroxycholecalciferols Phase 2
50 Micronutrients Phase 2

Interventional clinical trials:

(show top 50) (show all 78)
# Name Status NCT ID Phase Drugs
1 Retroviral Insertion Site Methodology Study Not yet recruiting NCT03311074 Phase 4
2 Risk-Adapted Allogeneic Stem Cell Transplantation For Mixed Donor Chimerism In Patients With Non-Malignant Diseases Unknown status NCT01019876 Phase 2, Phase 3 Fludarabine;Cyclophosphamide;Cyclophosphamide 40;Cyclophosphamide 30
3 Extension of Study TKT024 Evaluating Long-Term Safety and Clinical Outcomes in MPS II Patients Receiving Idursulfase Completed NCT00630747 Phase 2, Phase 3
4 Rapid Infusion of Immune Globulin Intravenous (Human) In Primary Immunodeficiency Patients Completed NCT00220766 Phase 3 Immune Globulin Intravenous [Human], 10% Caprylate/Chromatography Purified;Dextrose, 5% in Water
5 EZN-2279 in Patients With ADA-SCID Recruiting NCT01420627 Phase 3
6 Gene Therapy for X-linked Severe Combined Immunodeficiency Unknown status NCT01410019 Phase 1, Phase 2
7 Safety and Efficacy of Umbilical Cord Mesenchymal Stem Cell Therapy for Patients With Duchenne Muscular Dystrophy Unknown status NCT01610440 Phase 1, Phase 2
8 An Open-Label Clinical Trial of Replagal Enzyme Therapy in Children Ages 7-17 Years With Fabry Disease Completed NCT00071877 Phase 2 Replagal
9 MND-ADA Transduction of CD34+ Cells From Children With ADA-SCID Completed NCT00794508 Phase 2
10 Gene Therapy for ADA-SCID Completed NCT00599781 Phase 1, Phase 2
11 IMM 0212: 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 Gene Therapy ADA Deficiency Completed NCT01279720 Phase 1, Phase 2
13 Cord Blood Stem Cell Transplantation Study (COBLT) Completed NCT00000603 Phase 2
14 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
15 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
16 Gene Transfer for X-Linked Severe Combined Immunodeficiency in Newly Diagnosed Infants Recruiting NCT01512888 Phase 1, Phase 2 Busulfan
17 Gene Transfer for SCID-X1 Using a Self-inactivating Lentiviral Vector Recruiting NCT03217617 Phase 1, Phase 2
18 Phase I/II Trial of Lentiviral Gene Transfer for SCID-X1 With Low Dose Targeted Busulfan Conditioning Recruiting NCT03311503 Phase 1, Phase 2
19 Recombinant Human rhPTH(1-34) VS Association Alfacalcidol/Hydrochlorothiazide in Severe Primary Hypoparathyroidism Recruiting NCT02824718 Phase 2 Teriparatide;Thiazide;Potassium sparing diuretic;Alfacalcidol
20 Autologous Gene Therapy for Artemis-Deficient SCID Recruiting NCT03538899 Phase 1, Phase 2 AProArt;Busulfan
21 Lentiviral Gene Therapy for Adenosine Deaminase (ADA) Deficiency Recruiting NCT01380990 Phase 1, Phase 2
22 Immune Disorder HSCT Protocol Recruiting NCT01821781 Phase 2 Transplant preparative regimen of alemtuzumab, fludarabine, thiotepa, and melphalan
23 Busulfan, Fludarabine, and Thiotepa Conditioning Regimen for Non Malignant Disease Recruiting NCT03513328 Phase 1, Phase 2 Thiotepa--single daily dose;Thiotepa--escalated dose
24 Alpha/Beta T and CD19+ Depleted Peripheral Stem Cells for Patients With Primary Immunodeficiencies Recruiting NCT02990819 Phase 2
25 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
26 Autologous Cryopreserved CD34+ Hematopoietic Cells Transduced With EFS-ADA Lentivirus for ADA SCID Active, not recruiting NCT02999984 Phase 1, Phase 2
27 Autologous Transplant of EFS-ADA Modified Bone Marrow Cells for ADA-Deficient Severe Combined Immunodeficiency (SCID) Active, not recruiting NCT01852071 Phase 1, Phase 2
28 ADA Gene Transfer Into Hematopoietic Stem/Progenitor Cells for the Treatment of ADA-SCID Active, not recruiting NCT00598481 Phase 2
29 Fludarabine Phosphate, Melphalan, and Low-Dose Total-Body Irradiation Followed by Donor Peripheral Blood Stem Cell Transplant in Treating Patients With Hematologic Malignancies Active, not recruiting NCT01529827 Phase 2 fludarabine phosphate;melphalan;tacrolimus;mycophenolate mofetil;methotrexate
30 Sequential Cadaveric Lung and Bone Marrow Transplant for Immune Deficiency Diseases Enrolling by invitation NCT01852370 Phase 1, Phase 2
31 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
32 Hematopoietic Stem Cells Transplantation in Children With Combined Immunodeficiency (CID) Terminated NCT02737384 Phase 2
33 Hematopoietic Stem Cell Transplantation (HSCT) for Children With SCID Utilizing Alemtuzumab, Plerixafor & Filgrastim Terminated NCT01182675 Phase 2 Transplant Conditioning with Mobilization Only;Transplant Conditioning with Mobilization and Alemtuzumab
34 Allogeneic SCT Of Pts With SCID And Other Primary Immunodeficiency Disorders Terminated NCT00579137 Phase 1, Phase 2 Fludarabine
35 SCID Bu/Flu/ATG Study With T Cell Depletion Terminated NCT02127892 Phase 1, Phase 2
36 Sirolimus Prophylaxis for aGVHD in TME SCID Withdrawn NCT02177760 Phase 2 Sirolimus
37 Stem Cell Gene Therapy to Treat X-Linked Severe Combined Immunodeficiency (XSCID) Completed NCT00028236 Phase 1 Gene-Transduced Autologous CD34+ Stem Cells
38 An Open-Label Maintenance Study of the Enzyme Replacement Therapy Replagal in Patients With Fabry Disease Completed NCT00357786 Phase 1 Replagal agalsidase alfa;Replagal
39 Gene Therapy for Gaucher's and Fabry Disease Using Viruses and Blood-Forming Cells Completed NCT00001234 Phase 1
40 Transplantation of Hematopoietic Cells in Children With Severe Combined Immunodeficiency Syndrome Completed NCT00152100 Phase 1 Filgrastim, Alemtuzumab
41 Gene Transfer Therapy for Severe Combined Immunodeficieny Disease (SCID) Due to Adenosine Deaminase (ADA) Deficiency Completed NCT00018018 Phase 1 CD34+ cells transduced with ADA retrovir
42 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
43 Multivirus-specific Cytotoxic T Lymphocytes (mCTL) Recruiting NCT02510404 Phase 1
44 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
45 Human Placental-Derived Stem Cell Transplantation Active, not recruiting NCT01586455 Phase 1 Human Placental Derived Stem Cell
46 Safety and Early Efficacy Study of TBX-1400 in Patients With Severe Combined Immunodeficiency Not yet recruiting NCT02860559 Phase 1
47 Efficacy and Safety of ADVATE Standard Prophylaxis to Hemophilia A Unknown status NCT02280265 Not Applicable Recombinant Human Coagulation Factor VIII for injection
48 Genome-wide Single Cell Haplotyping as a Generic Method for Preimplantation Genetic Diagnosis Unknown status NCT01336400
49 Clinical Characteristics and Genetic Profiles of Severe Combined Immunodeficiency in China Unknown status NCT02231983
50 A Single-arm Safety Study of Transplantation Using Umbilical Cord Blood and Human Placental-derived Stem Cells From Partially Matched Related Donors in Persons With Certain Malignant Blood Diseases and Non-malignant Disorders Unknown status NCT00596999

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 29

Anatomical Context for Combined Immunodeficiency, X-Linked

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

41
T Cells, Bone, Bone Marrow, B Cells, Lung, Skin, Testes

Publications for Combined Immunodeficiency, X-Linked

Articles related to Combined Immunodeficiency, X-Linked:

(show top 50) (show all 1025)
# Title Authors Year
1
Preclinical Development of a Lentiviral Vector for Gene Therapy of X-Linked Severe Combined Immunodeficiency. ( 29707600 )
2018
2
T-Cell Receptor Excision Circles in HIV-Exposed, Uninfected Newborns Measured During a National Newborn Screening Program for Severe Combined Immunodeficiency. ( 29980289 )
2018
3
Antigen Loading (e.g., Glutamic Acid Decarboxylase 65) of Tolerogenic DCs (tolDCs) Reduces Their Capacity to Prevent Diabetes in the Non-Obese Diabetes (NOD)-Severe Combined Immunodeficiency Model of Adoptive Cotransfer of Diabetes As Well As in NOD Mice. ( 29503651 )
2018
4
Keeping it in the family: the case for considering late-onset combined immunodeficiency a subset of common variable immunodeficiency disorders. ( 29806948 )
2018
5
Bacterial and <i>Pneumocystis</i> Infections in the Lungs of Gene-Knockout Rabbits with Severe Combined Immunodeficiency. ( 29593714 )
2018
6
Antiviral T Cells for Adenovirus in the Pretransplant Period: A Bridge Therapy for Severe Combined Immunodeficiency. ( 29753156 )
2018
7
EBV-positive B-cell lymphoma manifestation of the liver in an infant with RAG1 severe combined immunodeficiency disease. ( 29856523 )
2018
8
Molecular diagnosis of severe combined immunodeficiency using whole-exome sequencing. ( 29937439 )
2018
9
Fatal P. jirovecii and Cytomegalovirus Infections in an Infant with Normal Trecs Count: Pitfalls of Newborn Screening for Severe Combined Immunodeficiency. ( 29613974 )
2018
10
BCGosis in Infants with Severe Combined ImmunoDeficiency (SCID). ( 29417456 )
2018
11
T<sup>+</sup> NK<sup>+</sup> IL-2 Receptor I^ Chain Mutation: a Challenging Diagnosis of Atypical Severe Combined Immunodeficiency. ( 29948574 )
2018
12
Diffuse large B-cell lymphoma chemotherapy reveals a combined immunodeficiency syndrome in cartilage hair hypoplasia. ( 29688570 )
2018
13
Severe Combined Immunodeficiency: A Case Series and Review from a Tertiary Pediatric Hospital. ( 29757593 )
2018
14
Severe combined immunodeficiency in Sting V154M/WT mice. ( 29800647 )
2018
15
Co-appearance of OPV and BCG vaccine-derived complications in two infants with severe combined immunodeficiency. ( 29804197 )
2018
16
X-Linked Severe Combined Immunodeficiency and Hepatoblastoma: A Case Report and Review of Literature. ( 29620683 )
2018
17
Late presenting atypical severe combined immunodeficiency (SCID) associated with a novel missense mutation in DCLRE1C. ( 28981982 )
2018
18
High Rates of Positive Severe Combined Immunodeficiency Screening Among Newborns with Severe Intestinal Failure. ( 29505141 )
2018
19
First Occurrence of Plasmablastic Lymphoma in Adenosine Deaminase-Deficient Severe Combined Immunodeficiency Disease Patient and Review of the Literature. ( 29456531 )
2018
20
A novel pathogenic mutation on Interleukin-7 receptor leading to severe combined immunodeficiency identified with newborn screening and whole exome sequencing. ( 29551298 )
2018
21
Combined Immunodeficiency with Ring Chromosome 21. ( 29656336 )
2018
22
High Incidence of Severe Combined Immunodeficiency Disease in Saudi Arabia Detected Through Combined T Cell Receptor Excision Circle and Next Generation Sequencing of Newborn Dried Blood Spots. ( 29713328 )
2018
23
Good's Syndrome-Association of the Late Onset Combined Immunodeficiency with Thymoma: Review of Literature and Case Report. ( 29512373 )
2018
24
Newborn Screening for Severe Combined Immunodeficiency. ( 29749587 )
2018
25
Identification of 22q11.2 Deletion Syndrome via Newborn Screening for Severe Combined Immunodeficiency. ( 28540525 )
2017
26
A Novel PGM3 Mutation Is Associated With a Severe Phenotype of Bone Marrow Failure, Severe Combined Immunodeficiency, Skeletal Dysplasia, and Congenital Malformations. ( 28543917 )
2017
27
Newborn screening for severe combined immunodeficiency: Evaluation of a commercial T-cell receptor excision circle-based method in Victorian dried blood spots. ( 28861919 )
2017
28
A novel PAX1 null homozygous mutation in autosomal recessive otofaciocervical syndrome associated with severe combined immunodeficiency. ( 28657137 )
2017
29
Medical Devices; Immunology and Microbiology Devices; Classification of the Newborn Screening Test for Severe Combined Immunodeficiency Disorder. Final order. ( 29091371 )
2017
30
A Practical Approach to Newborn Screening for Severe Combined Immunodeficiency Using the T Cell Receptor Excision Circle Assay. ( 29167668 )
2017
31
Current Knowledge and Priorities for Future Research in Late Effects after Hematopoietic Stem Cell Transplantation (HCT) for Severe Combined Immunodeficiency Patients: A Consensus Statement from the Second Pediatric Blood and Marrow Transplant Consortium International Conference on Late Effects after Pediatric HCT. ( 28068510 )
2017
32
Combined immunodeficiency with EBV positive B cell lymphoma and epidermodysplasia verruciformis due to a novel homozygous mutation in RASGRP1. ( 28822832 )
2017
33
Combined immunodeficiency and Epstein-Barr virus-induced B cell malignancy in humans with inherited CD70 deficiency. ( 28011864 )
2017
34
Evaluation of RAG1 mutations in an adult with combined immunodeficiency and progressive multifocal leukoencephalopathy. ( 28216420 )
2017
35
Hepatic Legionella pneumophila Infection in an Infant with Severe Combined Immunodeficiency. ( 28938259 )
2017
36
Mutation c.256_257delAA in RAG1 Gene in Polish Children with Severe Combined Immunodeficiency: Diversity of Clinical Manifestations. ( 28083621 )
2017
37
Identification of Novel JAK3 Mutations by Whole-Exome Sequencing in a Korean Boy With Severe Combined Immunodeficiency. ( 28570225 )
2017
38
Severe combined immunodeficiency: From its discovery to the perspective. ( 28747600 )
2017
39
A case of severe combined immunodeficiency caused by adenosine deaminase deficiency with a new mutation. ( 28823388 )
2017
40
Good Laboratory Practice Preclinical Safety Studies for GSK2696273 (MLV Vector-Based Ex Vivo Gene Therapy for Adenosine Deaminase Deficiency Severe Combined Immunodeficiency) in NSG Mice. ( 28319446 )
2017
41
Topical Cidofovir for Recalcitrant Verrucae in Individuals with Severe Combined Immunodeficiency After Hematopoietic Stem Cell Transplantation. ( 27699886 )
2017
42
Combined immunodeficiency and atopy caused by a dominant negative mutation in caspase activation and recruitment domain family member 11 (CARD11). ( 28826773 )
2017
43
Recommendations for Screening and Management of Late Effects in Patients with Severe Combined Immunodeficiency after Allogenic Hematopoietic Cell Transplantation: A Consensus Statement from the Second Pediatric Blood and Marrow Transplant Consortium International Conference on Late Effects after Pediatric HCT. ( 28479164 )
2017
44
A Droplet Digital PCR Method for Severe Combined Immunodeficiency Newborn Screening. ( 28826609 )
2017
45
Novel compound heterozygous mutations in ZAP70 in a Chinese patient with leaky severe combined immunodeficiency disorder. ( 28124082 )
2017
46
T Cell Lymphoma and Leukemia in Severe Combined Immunodeficiency Pigs following Bone Marrow Transplantation: A Case Report. ( 28747915 )
2017
47
Inhibition of TRPML1 by lysosomal adenosine involved in severe combined immunodeficiency diseases. ( 28087698 )
2017
48
FOXN1 deficient nude severe combined immunodeficiency. ( 28077132 )
2017
49
Life-threatening systemic rotavirus infection after vaccination in Severe Combined Immunodeficiency (SCID). ( 28815852 )
2017
50
First Year of Israeli Newborn Screening for Severe Combined Immunodeficiency-Clinical Achievements and Insights. ( 29167666 )
2017

Variations for Combined Immunodeficiency, X-Linked

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

75
# Symbol AA change Variation ID SNP ID
1 IL2RG p.Arg222Cys VAR_002688 rs111033618
2 IL2RG p.Leu293Gln VAR_002702 rs137852510

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

6
(show all 16)
# Gene Variation Type Significance SNP ID Assembly Location
1 IL2RG NM_000206.2(IL2RG): c.878T> A (p.Leu293Gln) single nucleotide variant Pathogenic rs137852510 GRCh37 Chromosome X, 70328173: 70328173
2 IL2RG NM_000206.2(IL2RG): c.878T> A (p.Leu293Gln) single nucleotide variant Pathogenic rs137852510 GRCh38 Chromosome X, 71108323: 71108323
3 IL2RG NM_000206.2(IL2RG): c.664C> T (p.Arg222Cys) single nucleotide variant Pathogenic rs111033618 GRCh37 Chromosome X, 70329171: 70329171
4 IL2RG NM_000206.2(IL2RG): c.664C> T (p.Arg222Cys) single nucleotide variant Pathogenic rs111033618 GRCh38 Chromosome X, 71109321: 71109321
5 MALT1 NM_006785.3(MALT1): c.1019-2A> G single nucleotide variant no interpretation for the single variant rs786200953 GRCh37 Chromosome 18, 56390278: 56390278
6 MALT1 NM_006785.3(MALT1): c.1019-2A> G single nucleotide variant no interpretation for the single variant rs786200953 GRCh38 Chromosome 18, 58723046: 58723046
7 MALT1 NM_006785.3(MALT1): c.1060delC (p.Arg354Glyfs) deletion no interpretation for the single variant rs786200954 GRCh38 Chromosome 18, 58723089: 58723089
8 MALT1 NM_006785.3(MALT1): c.1060delC (p.Arg354Glyfs) deletion no interpretation for the single variant rs786200954 GRCh37 Chromosome 18, 56390321: 56390321
9 TFRC NM_003234.3(TFRC): c.58T> C (p.Tyr20His) single nucleotide variant Pathogenic rs863225436 GRCh37 Chromosome 3, 195802210: 195802210
10 TFRC NM_003234.3(TFRC): c.58T> C (p.Tyr20His) single nucleotide variant Pathogenic rs863225436 GRCh38 Chromosome 3, 196075339: 196075339
11 ZAP70 NM_001079.3(ZAP70): c.574C> T (p.Arg192Trp) single nucleotide variant Pathogenic rs199840952 GRCh37 Chromosome 2, 98349356: 98349356
12 ZAP70 NM_001079.3(ZAP70): c.574C> T (p.Arg192Trp) single nucleotide variant Pathogenic rs199840952 GRCh38 Chromosome 2, 97732893: 97732893
13 ZAP70 NM_001079.3(ZAP70): c.1079G> C (p.Arg360Pro) single nucleotide variant Pathogenic rs869025224 GRCh38 Chromosome 2, 97734709: 97734709
14 ZAP70 NM_001079.3(ZAP70): c.1079G> C (p.Arg360Pro) single nucleotide variant Pathogenic rs869025224 GRCh37 Chromosome 2, 98351172: 98351172
15 BCL11B NM_138576.3(BCL11B): c.1323T> G (p.Asn441Lys) single nucleotide variant Pathogenic rs750610248 GRCh38 Chromosome 14, 99175513: 99175513
16 BCL11B NM_138576.3(BCL11B): c.1323T> G (p.Asn441Lys) single nucleotide variant Pathogenic rs750610248 GRCh37 Chromosome 14, 99641850: 99641850

Expression for Combined Immunodeficiency, X-Linked

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

Pathways for Combined Immunodeficiency, X-Linked

Pathways related to Combined Immunodeficiency, X-Linked according to KEGG:

37
# Name Kegg Source Accession
1 Primary immunodeficiency hsa05340

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

(show all 25)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.94 CD34 CD40LG IL2 IL2RG IL7 IL7R
2
Show member pathways
13.26 CD40LG IL2 IL2RG IL7 IL7R JAK3
3
Show member pathways
13.21 CD40LG IL2 IL2RG IL7 IL7R JAK3
4
Show member pathways
12.78 IL2 IL2RG IL7 IL7R JAK3
5
Show member pathways
12.76 CD40LG IL2 RFX5 RFXAP ZAP70
6 12.71 IL2 IL2RG IL7 IL7R JAK3
7
Show member pathways
12.47 IL2 IL2RG IL7 IL7R JAK3
8
Show member pathways
12.32 IL2 IL2RG JAK3 ZAP70
9
Show member pathways
12.27 CD40LG IL2 IL2RG ZAP70
10 12.27 BCL11B CD34 CD40LG DCLRE1C IL2 JAK3
11
Show member pathways
12.03 IL2 IL2RG JAK3
12 11.82 CD34 IL2 IL7 IL7R
13 11.72 CD34 IL7 IL7R TFRC
14 11.64 ADA CD34 RAG2
15 11.61 CD34 IL2 IL7R
16 11.57 CD34 IL2 IL7 IL7R
17
Show member pathways
11.56 IL2 IL2RG JAK3
18 11.52 CD40LG IL2RG JAK3
19 11.44 CD34 CD40LG IL7R
20 11.36 IL2 IL2RG JAK3
21
Show member pathways
11.29 IL2RG IL7 IL7R JAK3
22 11.08 CD40LG IL2 IL2RG ZAP70
23 10.96 DCLRE1C LIG4 PRKDC
24 10.93 ADA CD40LG DCLRE1C IL2RG IL7R JAK3
25 10.88 IL2RG IL7 IL7R JAK3 RAG1 RAG2

GO Terms for Combined Immunodeficiency, X-Linked

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

# Name GO ID Score Top Affiliating Genes
1 external side of plasma membrane GO:0009897 9.43 ADA CD34 CD40LG IL2RG IL7R TFRC
2 DNA-dependent protein kinase-DNA ligase 4 complex GO:0005958 9.16 LIG4 PRKDC
3 nonhomologous end joining complex GO:0070419 8.8 DCLRE1C LIG4 PRKDC

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

(show all 38)
# Name GO ID Score Top Affiliating Genes
1 cytokine-mediated signaling pathway GO:0019221 9.99 IL2 IL2RG IL7 IL7R JAK3
2 regulation of molecular function GO:0065009 9.97 DOCK8 IL2 IL2RG JAK3
3 adaptive immune response GO:0002250 9.96 DCLRE1C IL2 JAK3 RAG1 ZAP70
4 positive regulation of T cell proliferation GO:0042102 9.85 CD40LG IL2 JAK3 TFRC
5 DNA recombination GO:0006310 9.83 DCLRE1C LIG4 PRKDC RAG1 RAG2
6 double-strand break repair via nonhomologous end joining GO:0006303 9.82 DCLRE1C LIG4 PRKDC
7 double-strand break repair GO:0006302 9.81 DCLRE1C LIG4 PRKDC
8 response to ionizing radiation GO:0010212 9.8 DCLRE1C LIG4 PRKDC
9 positive regulation of B cell proliferation GO:0030890 9.8 ADA IL2 IL7 TFRC
10 thymus development GO:0048538 9.79 BCL11B PRKDC RAG1
11 T cell differentiation GO:0030217 9.78 IL2 IL7R RAG2 ZAP70
12 interleukin-2-mediated signaling pathway GO:0038110 9.71 IL2 IL2RG JAK3
13 negative regulation of T cell apoptotic process GO:0070233 9.69 DOCK8 IL7R RAG1
14 positive regulation of calcium-mediated signaling GO:0050850 9.68 ADA ZAP70
15 isotype switching GO:0045190 9.67 CD40LG LIG4
16 interleukin-7-mediated signaling pathway GO:0038111 9.67 IL2RG IL7 IL7R JAK3
17 regulation of T cell differentiation GO:0045580 9.66 ADA RAG1
18 interleukin-15-mediated signaling pathway GO:0035723 9.66 IL2RG JAK3
19 positive regulation of organ growth GO:0046622 9.65 IL7 RAG2
20 positive regulation of alpha-beta T cell differentiation GO:0046638 9.65 ADA ZAP70
21 positive regulation of T cell differentiation in thymus GO:0033089 9.65 ADA IL7R
22 B cell differentiation GO:0030183 9.65 CD40LG DCLRE1C JAK3 RAG1 RAG2
23 interleukin-21-mediated signaling pathway GO:0038114 9.64 IL2RG JAK3
24 negative regulation of thymocyte apoptotic process GO:0070244 9.63 ADA JAK3 RAG1
25 interleukin-9-mediated signaling pathway GO:0038113 9.62 IL2RG JAK3
26 interleukin-4-mediated signaling pathway GO:0035771 9.61 IL2RG JAK3
27 B cell lineage commitment GO:0002326 9.61 PRKDC RAG2
28 pro-B cell differentiation GO:0002328 9.6 LIG4 PRKDC
29 pre-B cell allelic exclusion GO:0002331 9.58 RAG1 RAG2
30 T cell lineage commitment GO:0002360 9.58 IL7 PRKDC RAG2
31 immunoglobulin V(D)J recombination GO:0033152 9.57 LIG4 PRKDC
32 T cell differentiation in thymus GO:0033077 9.55 BCL11B LIG4 PRKDC RAG1 RAG2
33 T cell receptor V(D)J recombination GO:0033153 9.5 BCL11B LIG4 PRKDC
34 positive regulation of T cell differentiation GO:0045582 9.35 ADA IL2 IL7 RAG1 ZAP70
35 V(D)J recombination GO:0033151 9.02 DCLRE1C LIG4 PRKDC RAG1 RAG2
36 immune response GO:0006955 10.07 CD40LG IL2 IL2RG IL7 IL7R RAG1
37 immune system process GO:0002376 10.06 DCLRE1C IL2 JAK3 PRKDC ZAP70
38 negative regulation of apoptotic process GO:0043066 10.06 ADA BCL11B CD40LG IL2 IL7 PRKDC

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

# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 9.89 ADA BCL11B CD40LG DCLRE1C DOCK8 IL2
2 Ras guanyl-nucleotide exchange factor activity GO:0005088 9.33 IL2 IL2RG JAK3
3 interleukin-7 receptor activity GO:0004917 8.62 IL2RG IL7R

Sources for Combined Immunodeficiency, X-Linked

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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