MCID: SVR004
MIFTS: 69

Severe Combined Immunodeficiency

Categories: Rare diseases, Immune diseases

Aliases & Classifications for Severe Combined Immunodeficiency

Summaries for Severe Combined Immunodeficiency

NIH Rare Diseases : 50 severe combined immunodeficiencies (scid) are inheritedimmune system disorders characterized by abnormalities with responses of both t cells and b cells (specific types of white blood cells needed for immune system function). common signs and symptoms include an increased susceptibility to infections including ear infections; pneumonia or bronchitis; oral thrush; and diarrhea. due to recurrent infections, children with scid do not grow and gain weight as expected (failure to thrive). scid may be caused by mutations in any of several genes and can be inherited in an x-linked recessive (most commonly) or autosomal recessive manner. the most common type of scid is called x-linked severe combined immunodeficiency (xscid). another form of scid is caused by a deficiency of the enzyme adenosine deaminase (ada). infections are treated with specific antibiotic, antifungal, and antiviral agents and administration of intravenous (iv) immunoglobulin. the most effective treatment is transplantation of blood-forming stem cells from the bone marrow of a healthy person. last updated: 6/28/2017

MalaCards based summary : Severe Combined Immunodeficiency, also known as scid, is related to severe combined immunodeficiency, t cell-negative, b-cell/natural killer-cell positive and omenn syndrome, and has symptoms including failure to thrive, recurrent respiratory infections and recurrent urinary tract infections. An important gene associated with Severe Combined Immunodeficiency is IL7R (Interleukin 7 Receptor), and among its related pathways/superpathways are Innate Immune System and ERK Signaling. The drugs alemtuzumab and Busulfan have been mentioned in the context of this disorder. Affiliated tissues include Blood and Blood, and related phenotypes are Increased viability with tamoxifen and hematopoietic system

Disease Ontology : 12 A combined T cell and B cell immunodeficiency that is caused by a defect in several genes encoding for B and T lymphocytes resulting in individuals with non-functional immune systems.

Wikipedia : 72 Severe combined immunodeficiency, SCID, also known as alymphocytosis, Glanzmann–Riniker syndrome, severe... more...

Related Diseases for Severe Combined Immunodeficiency

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

(show top 50) (show all 220)
id Related Disease Score Top Affiliating Genes
1 severe combined immunodeficiency, t cell-negative, b-cell/natural killer-cell positive 34.6 IL7R PTPRC
2 omenn syndrome 33.6 DCLRE1C LIG4
3 cd45 deficiency 32.0 RAG1 RAG2
4 cd3gamma deficiency 31.8 CD3D JAK3 ZAP70
5 cd3epsilon deficiency 31.5 IL2RG IL7 IL7R JAK3
6 coronin-1a deficiency 31.2 CD3D CD3E PTPRC
7 severe combined immunodeficiency, x-linked 12.6
8 severe combined immunodeficiency, athabascan type 12.6
9 severe combined immunodeficiency, b cell-negative 12.5
10 severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation 12.4
11 zap70-related severe combined immunodeficiency 12.4
12 jak3-deficient severe combined immunodeficiency 12.3
13 severe combined immunodeficiency due to ada deficiency 12.3
14 achondroplasia and severe combined immunodeficiency 12.3
15 severe combined immunodeficiency, atypical 12.2
16 t-b+ severe combined immunodeficiency due to cd3delta/cd3epsilon/cd3zeta 12.1
17 adenosine deaminase deficiency 12.1
18 short-limb skeletal dysplasia with severe combined immunodeficiency 12.1
19 reticular dysgenesis 12.0
20 scid, autosomal recessive, t-negative/b-positive type 11.9
21 immunodeficiency 26, with or without neurologic abnormalities 11.7
22 immunodeficiency 18 11.6
23 bare lymphocyte syndrome, type ii, complementation group c 11.5
24 immunodeficiency 19 11.5
25 immunodeficiency 49 11.4
26 immunodeficiency 8 11.4
27 immunodeficiency 22 11.4
28 immunodeficiency 15 11.3
29 immunodeficiency 24 11.3
30 immunodeficiency 11a 11.3
31 zap-70 deficiency 11.3
32 mhc class ii deficiency 11.2
33 immunodeficiency 17, cd3 gamma deficient 11.2
34 cd3delta deficiency 11.0
35 artemis deficiency 11.0
36 immunodeficiency 9 10.9
37 severe combined immune deficiency, autosomal recessive t cell-negative, b cell-positive, nk cell-positive, ptprc-related 10.9
38 severe combined immune deficiency, autosomal recessive, t cell-negative, b cell-negative, nk cell-positive, rag1/rag2-related 10.9
39 t-cell immunodeficiency, congenital alopecia, and nail dystrophy 10.8
40 immunoskeletal dysplasia with neurodevelopmental abnormalities 10.7
41 recombinase activating gene 1 deficiency 10.7
42 recombinase activating gene 2 deficiency 10.7
43 immunodeficiency due to purine nucleoside phosphorylase deficiency 10.7
44 interleukin-7 receptor alpha deficiency 10.7
45 gastrointestinal defects and immunodeficiency syndrome 10.7
46 immunodeficiency 52 10.7
47 dock2 deficiency 10.7
48 bare lymphocyte syndrome, type i 10.7
49 cd3zeta deficiency 10.7
50 shox-related haploinsufficiency disorders 10.7 RAG1 RAG2

Graphical network of the top 20 diseases related to Severe Combined Immunodeficiency:



Diseases related to Severe Combined Immunodeficiency

Symptoms & Phenotypes for Severe Combined Immunodeficiency

Human phenotypes related to Severe Combined Immunodeficiency:

32 (show all 16)
id Description HPO Frequency HPO Source Accession
1 failure to thrive 32 hallmark (90%) HP:0001508
2 recurrent respiratory infections 32 hallmark (90%) HP:0002205
3 recurrent urinary tract infections 32 occasional (7.5%) HP:0000010
4 hepatomegaly 32 occasional (7.5%) HP:0002240
5 splenomegaly 32 occasional (7.5%) HP:0001744
6 microcephaly 32 occasional (7.5%) HP:0000252
7 lymphopenia 32 frequent (33%) HP:0001888
8 alopecia 32 frequent (33%) HP:0001596
9 fever 32 hallmark (90%) HP:0001945
10 sensorineural hearing impairment 32 occasional (7.5%) HP:0000407
11 skin rash 32 frequent (33%) HP:0000988
12 chronic diarrhea 32 hallmark (90%) HP:0002028
13 chronic otitis media 32 occasional (7.5%) HP:0000389
14 sepsis 32 hallmark (90%) HP:0100806
15 severe combined immunodeficiency 32 hallmark (90%) HP:0004430
16 abnormality of the dentition 32 occasional (7.5%) HP:0000164

GenomeRNAi Phenotypes related to Severe Combined Immunodeficiency according to GeneCards Suite gene sharing:

26
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased viability with tamoxifen GR00120-A 8.62 PRKDC CD3E

MGI Mouse Phenotypes related to Severe Combined Immunodeficiency:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 10.3 CD3D CD3E DCLRE1C IL2 IL2RG IL7
2 endocrine/exocrine gland MP:0005379 10.28 RAG2 ZAP70 ADA CD3E DCLRE1C IL2
3 immune system MP:0005387 10.25 ADA CD3D CD3E DCLRE1C IL2 IL2RG
4 cellular MP:0005384 10.23 IL2RG IL7R JAK3 LIG4 NHEJ1 PRKDC
5 digestive/alimentary MP:0005381 10.13 ADA IL2 IL2RG IL9 JAK3 LIG4
6 neoplasm MP:0002006 9.85 CD3E IL2 IL2RG IL7R LIG4 NHEJ1
7 liver/biliary system MP:0005370 9.8 ADA IL2 LIG4 PRKDC PTPRC RAG1
8 normal MP:0002873 9.56 RAG1 RAG2 ZAP70 ADA IL2RG IL7R
9 respiratory system MP:0005388 9.23 ADA IL2 IL2RG PRKDC PTPRC RAG1

Drugs & Therapeutics for Severe Combined Immunodeficiency

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

(show top 50) (show all 86)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
alemtuzumab Approved, Investigational Phase 2, Phase 3,Phase 1 216503-57-0
2
Busulfan Approved, Investigational Phase 2, Phase 3,Phase 1 55-98-1 2478
3
Cyclophosphamide Approved, Investigational Phase 2, Phase 3 50-18-0, 6055-19-2 2907
4
Fludarabine Approved Phase 2, Phase 3, Phase 1 21679-14-1, 75607-67-9 30751
5
Vidarabine Approved Phase 2, Phase 3,Phase 1 24356-66-9 32326 21704
6
Adenosine Approved, Investigational Phase 3,Phase 2,Phase 1 58-61-7 60961
7 Alkylating Agents Phase 2, Phase 3,Phase 1
8 Anti-Infective Agents Phase 2, Phase 3,Phase 1
9 Antimetabolites Phase 2, Phase 3,Phase 1
10 Antimetabolites, Antineoplastic Phase 2, Phase 3,Phase 1
11 Antirheumatic Agents Phase 2, Phase 3,Phase 1
12 Antiviral Agents Phase 2, Phase 3,Phase 1
13 Immunosuppressive Agents Phase 2, Phase 3,Phase 1
14 Antibodies Phase 3,Phase 1,Phase 2
15 gamma-Globulins Phase 3
16 Immunoglobulins Phase 3,Phase 1,Phase 2
17 Immunoglobulins, Intravenous Phase 3
18 Rho(D) Immune Globulin Phase 3
19
Lenograstim Approved Phase 2,Phase 1 135968-09-1
20
Melphalan Approved Phase 2 148-82-3 4053 460612
21 Thiotepa Approved Phase 2 52-24-4 5453
22
Hydroxyurea Approved Phase 2 127-07-1 3657
23
Mechlorethamine Approved Phase 2 51-75-2 4033
24
Methotrexate Approved Phase 2 1959-05-2, 59-05-2 126941
25
Mycophenolate mofetil Approved, Investigational Phase 2,Phase 1 128794-94-5 5281078
26
Mycophenolic acid Approved Phase 2,Phase 1 24280-93-1 446541
27
Tacrolimus Approved, Investigational Phase 2 104987-11-3 445643 439492
28
Miconazole Approved, Investigational, Vet_approved Phase 2,Phase 1 22916-47-8 4189
29
Folic Acid Approved, Nutraceutical, Vet_approved Phase 2 59-30-3 6037
30
leucovorin Approved, Nutraceutical Phase 2 58-05-9 143 6006
31 Analgesics Phase 2,Phase 1
32 Anti-Arrhythmia Agents Phase 2,Phase 1
33 Neurotransmitter Agents Phase 2,Phase 1
34 Peripheral Nervous System Agents Phase 2,Phase 1
35 Vasodilator Agents Phase 2,Phase 1
36 Antilymphocyte Serum Phase 1, Phase 2
37 Nucleic Acid Synthesis Inhibitors Phase 2
38 Anesthetics Phase 1, Phase 2
39 Anti-Bacterial Agents Phase 2,Phase 1
40 Antibiotics, Antitubercular Phase 2,Phase 1
41 Calcineurin Inhibitors Phase 2,Phase 1
42 Dermatologic Agents Phase 2,Phase 1
43 Folic Acid Antagonists Phase 2
44 Vidarabine Phosphate Phase 2
45 Vitamin B Complex Phase 2
46 Antifungal Agents Phase 2,Phase 1
47 Hormones Phase 1, Phase 2
48 Hypoglycemic Agents Phase 1, Phase 2
49 insulin Phase 1, Phase 2
50 Insulin, Globin Zinc Phase 1, Phase 2

Interventional clinical trials:

(show top 50) (show all 59)

id Name Status NCT ID Phase Drugs
1 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
2 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
3 EZN-2279 in Patients With ADA-SCID Recruiting NCT01420627 Phase 3
4 MND-ADA Transduction of CD34+ Cells From Children With ADA-SCID Completed NCT00794508 Phase 2
5 Gene Therapy for ADA-SCID Completed NCT00599781 Phase 1, Phase 2
6 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
7 Gene Therapy ADA Deficiency Completed NCT01279720 Phase 1, Phase 2
8 Cord Blood Stem Cell Transplantation Study (COBLT) Completed NCT00000603 Phase 2
9 Gene Transfer for X-Linked Severe Combined Immunodeficiency in Newly Diagnosed Infants Recruiting NCT01512888 Phase 1, Phase 2 Busulfan
10 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
11 Gene Transfer for Severe Combined Immunodeficiency, X-linked (SCID-X1) Using a Self-inactivating (SIN) Gammaretroviral Vector Recruiting NCT01129544 Phase 1, Phase 2
12 Autologous Cryopreserved CD34+ Hematopoietic Cells Transduced With EFS-ADA Lentivirus for ADA SCID Recruiting NCT02999984 Phase 1, Phase 2
13 Gene Transfer for SCID-X1 Using a Self-inactivating Lentiviral Vector Recruiting NCT03217617 Phase 1, Phase 2
14 Lentiviral Gene Therapy for Adenosine Deaminase (ADA) Deficiency Recruiting NCT01380990 Phase 1, Phase 2
15 Sequential Cadaveric Lung and Bone Marrow Transplant for Immune Deficiency Diseases Recruiting NCT01852370 Phase 1, Phase 2
16 Immune Disorder HSCT Protocol Recruiting NCT01821781 Phase 2 Transplant preparative regimen of alemtuzumab, fludarabine, thiotepa, and melphalan
17 Reduced Intensity Conditioning for Non-Malignant Disorders Undergoing UCBT, BMT or PBSCT Recruiting NCT01962415 Phase 2 Hydroxyurea;Alemtuzumab;Fludarabine;Melphalan;Thiotepa
18 Gene Therapy for X-linked Severe Combined Immunodeficiency Active, not recruiting NCT01410019 Phase 1, Phase 2
19 Autologous Transplant of EFS-ADA Modified Bone Marrow Cells for ADA-Deficient Severe Combined Immunodeficiency (SCID) Active, not recruiting NCT01852071 Phase 1, Phase 2
20 ADA Gene Transfer Into Hematopoietic Stem/Progenitor Cells for the Treatment of ADA-SCID Active, not recruiting NCT00598481 Phase 2
21 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
22 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
23 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
24 SCID Bu/Flu/ATG Study With T Cell Depletion Terminated NCT02127892 Phase 1, Phase 2
25 Allogeneic SCT Of Pts With SCID And Other Primary Immunodeficiency Disorders Terminated NCT00579137 Phase 1, Phase 2 Fludarabine
26 Sirolimus Prophylaxis for aGVHD in TME SCID Withdrawn NCT02177760 Phase 2 Sirolimus
27 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 Phase 1
28 Transplantation of Hematopoietic Cells in Children With Severe Combined Immunodeficiency Syndrome Completed NCT00152100 Phase 1 Filgrastim, Alemtuzumab
29 Stem Cell Gene Therapy to Treat X-Linked Severe Combined Immunodeficiency (XSCID) Completed NCT00028236 Phase 1 Gene-Transduced Autologous CD34+ Stem Cells
30 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
31 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
32 Multivirus-specific Cytotoxic T Lymphocytes (mCTL) Recruiting NCT02510404 Phase 1
33 Human Placental-Derived Stem Cell Transplantation Recruiting NCT01586455 Phase 1 Human Placental Derived Stem Cell
34 Safety Study of Gene Modified Donor T Cell Infusion After Stem Cell Transplant for Non-Malignant Diseases Recruiting NCT02231710 Phase 1
35 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
36 Safety and Early Efficacy Study of TBX-1400 in Patients With Severe Combined Immunodeficiencies Not yet recruiting NCT02860559 Phase 1
37 Clinical Characteristics and Genetic Profiles of Severe Combined Immunodeficiency in China Unknown status NCT02231983
38 Gene Transfer Therapy for Severe Combined Immunodeficieny Disease (SCID) Due to Adenosine Deaminase (ADA) Deficiency: A Natural History Study Completed NCT00001255 ADA PBSC;ADA Umbilical Cord Blood Cells;Transduced Lymphocytes
39 Influences on Female Adolescents' Decisions Regarding Testing for Carrier Status of XSCID Completed NCT00006335
40 Newborn Screening for Severe Combined Immunodeficiency (SCID) in a High-Risk Population Completed NCT00845416
41 Developing Newborn Screening for Infants With Primary Immunodeficiency Completed NCT00113464
42 Neonatal Screening of Severe Combined Immunodeficiencies Recruiting NCT02590328
43 Genetic Basis of Immunodeficiency Recruiting NCT00055172
44 Establishing Fibroblast-Derived Cell Lines From Skin Biopsies of Patients With Immunodeficiency or Immunodysregulation Disorders Recruiting NCT00895271
45 Patients Treated for SCID (1968-2010) Recruiting NCT01346150
46 Natural History Study of SCID Disorders Recruiting NCT01186913
47 Evaluation of Patients With Immune Function Abnormalities Recruiting NCT00128973
48 Long Term Follow Up Of Patients Who Have Received Gene Therapy Or Gene Marked Products Recruiting NCT00695279
49 Consequences of DNA Repair and Telomere Defects on the Function of the Immune System: Application to CVID and Immune Deficiencies With Dysmorphic Syndromes Recruiting NCT02556359
50 Use of G-CSF to Obtain Blood Cell Precursors Recruiting NCT00001405

Search NIH Clinical Center for Severe Combined Immunodeficiency

Inferred drug relations via UMLS 69 / NDF-RT 48 :


Cell-based therapeutics:


LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database
Read about Severe Combined Immunodeficiency cell therapies at LifeMap Discovery.

Genetic Tests for Severe Combined Immunodeficiency

Genetic tests related to Severe Combined Immunodeficiency:

id Genetic test Affiliating Genes
1 Severe Combined Immunodeficiency Disease 29
2 Severe Combined Immunodeficiency 29

Anatomical Context for Severe Combined Immunodeficiency

MalaCards organs/tissues related to Severe Combined Immunodeficiency:

39
T Cells, B Cells, Bone, Bone Marrow, Skin, Lung, Testes
LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database

Cells/anatomical compartments in embryo or adult related to Severe Combined Immunodeficiency:
id Tissue Anatomical CompartmentCell Relevance
1 Blood Peripheral Blood B-cell Progenitor Cells Affected by disease
2 Blood Hematopoietic Bone Marrow Hematopoietic Stem Cells Potential therapeutic candidate
3 Blood Peripheral Blood Natural Killer Cells Affected by disease

Publications for Severe Combined Immunodeficiency

Articles related to Severe Combined Immunodeficiency:

(show top 50) (show all 851)
id Title Authors Year
1
Topical Cidofovir for Recalcitrant Verrucae in Individuals with Severe Combined Immunodeficiency After Hematopoietic Stem Cell Transplantation. ( 27699886 )
2017
2
Mutation c.256_257delAA in RAG1 Gene in Polish Children with Severe Combined Immunodeficiency: Diversity of Clinical Manifestations. ( 28083621 )
2017
3
Acute Myeloid Leukemia in a Patient With X-linked Severe Combined Immunodeficiency. ( 28678090 )
2017
4
Life-threatening systemic rotavirus infection after vaccination in Severe Combined Immunodeficiency (SCID). ( 28815852 )
2017
5
Identification of Novel JAK3 Mutations by Whole-Exome Sequencing in a Korean Boy With Severe Combined Immunodeficiency. ( 28570225 )
2017
6
FOXN1 deficient nude severe combined immunodeficiency. ( 28077132 )
2017
7
Maternal T and B cell engraftment in two cases of X-linked severe combined immunodeficiency with IgG1 gammopathy. ( 28780374 )
2017
8
A Droplet Digital PCR Method for Severe Combined Immunodeficiency Newborn Screening. ( 28826609 )
2017
9
Long term outcomes of severe combined immunodeficiency: therapy implications. ( 28918671 )
2017
10
T Cell Lymphoma and Leukemia in Severe Combined Immunodeficiency Pigs following Bone Marrow Transplantation: A Case Report. ( 28747915 )
2017
11
A Novel PGM3 Mutation Is Associated With a Severe Phenotype of Bone Marrow Failure, Severe Combined Immunodeficiency, Skeletal Dysplasia, and Congenital Malformations. ( 28543917 )
2017
12
A novel PAX1 null homozygous mutation in autosomal recessive otofaciocervical syndrome associated with severe combined immunodeficiency. ( 28657137 )
2017
13
A case of severe combined immunodeficiency caused by adenosine deaminase deficiency with a new mutation. ( 28823388 )
2017
14
Development of fresh and vitrified agouti ovarian tissue after xenografting to ovariectomised severe combined immunodeficiency (SCID) mice. ( 28784201 )
2017
15
Inhibition of TRPML1 by lysosomal adenosine involved in severe combined immunodeficiency diseases. ( 28087698 )
2017
16
Hepatic Legionella pneumophila Infection in an Infant with Severe Combined Immunodeficiency. ( 28938259 )
2017
17
Newborn screening for severe combined immunodeficiency: Evaluation of a commercial T-cell receptor excision circle-based method in Victorian dried blood spots. ( 28861919 )
2017
18
Identification of 22q11.2 Deletion Syndrome via Newborn Screening for Severe Combined Immunodeficiency. ( 28540525 )
2017
19
Haematopoietic stem cell transplantation for severe combined immunodeficiency: Long-term health outcomes and patient perspectives. ( 28513891 )
2017
20
Disseminated papular lesions as a unique manifestation heralding bacille Calmette-GuAcrin infection in a patient with T-B+NK- severe combined immunodeficiency. ( 28597928 )
2017
21
Novel compound heterozygous mutations in ZAP70 in a Chinese patient with leaky severe combined immunodeficiency disorder. ( 28124082 )
2017
22
Severe combined immunodeficiency: From its discovery to the perspective. ( 28747600 )
2017
23
Early diagnosis of severe combined immunodeficiency (SCID) in Turkey: a pilot study. ( 28814173 )
2017
24
A novel mutation in the JH4 domain of JAK3 causing severe combined immunodeficiency complicated by vertebral osteomyelitis. ( 28917720 )
2017
25
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
26
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
27
Family History of Early Infant Death Correlates with Earlier Age at Diagnosis But Not Shorter Time to Diagnosis for Severe Combined Immunodeficiency. ( 28747913 )
2017
28
Maternal T-Cell Engraftment Interferes With Human Leukocyte Antigen Typing in Severe Combined Immunodeficiency. ( 26834123 )
2016
29
Antitumor efficacy of lidamycin against human multiple myeloma RPMI 8226 cells and the xenograft in nonobese diabetic/severe combined immunodeficiency mice. ( 27072234 )
2016
30
Transplacental maternal engraftment and posttransplantation graft-versus-host disease in children with severe combined immunodeficiency. ( 27444177 )
2016
31
Costs associated with treatment of severe combined immunodeficiency (SCID) - rationale for newborn screening in Sweden. ( 28012934 )
2016
32
Functional changes in gut microbiota during hematopoietic stem cell transplantation for severe combined immunodeficiency. ( 27118218 )
2016
33
Pigs with Severe Combined Immunodeficiency Are Impaired in Controlling Influenza A Virus Infection. ( 27988511 )
2016
34
Lentiviral hematopoietic stem cell gene therapy for X-linked severe combined immunodeficiency. ( 27099176 )
2016
35
Newborn screening for severe combined immunodeficiency using a novel and simplified method to measure T-cell excision circles (TREC). ( 27916705 )
2016
36
Can Parents Refuse a Potentially Lifesaving Transplant for Severe Combined Immunodeficiency? ( 27307145 )
2016
37
Saccharomyces kluyveri Fungemia in an Infant with Severe Combined Immunodeficiency. ( 27771657 )
2016
38
Necrotizing Retinitis Secondary to Congenital Cytomegalovirus Infection Associated with Severe Combined Immunodeficiency. ( 27999698 )
2016
39
Guidelines for Screening, Early Diagnosis and Management of Severe Combined Immunodeficiency (SCID) in India. ( 26920398 )
2016
40
Cytomegalovirus Meningitis in an Infant with Severe Combined Immunodeficiency. ( 26996725 )
2016
41
Medallion-Like Dermal Dendrocytic Hamartoma, Dermatofibrosarcoma Protuberans, and Adenosine Deaminase-Deficient Severe Combined Immunodeficiency. ( 27176810 )
2016
42
Deep intronic mis-splicing mutation in JAK3 gene underlies T-B+NK- severe combined immunodeficiency phenotype. ( 26769277 )
2016
43
A novel deletion mutation in IL2RG gene results in X-linked severe combined immunodeficiency with an atypical phenotype. ( 27566612 )
2016
44
Gene Therapy for X-Linked Severe Combined Immunodeficiency: Where Do We Stand? ( 26790362 )
2016
45
Lentivirus Mediated Correction of Artemis-deficient Severe Combined Immunodeficiency. ( 27611239 )
2016
46
Mutations in linker for activation of TA cells (LAT) lead to a novel form of severe combined immunodeficiency. ( 27522155 )
2016
47
Different Clinical Phenotypes in 2 Siblings With X-Linked Severe Combined Immunodeficiency. ( 27012023 )
2016
48
Increased and prolonged human norovirus infection in RAG2/IL2RG deficient gnotobiotic pigs with severe combined immunodeficiency. ( 27118081 )
2016
49
Multisystem Anomalies in Severe Combined Immunodeficiency with Mutant BCL11B. ( 27959755 )
2016
50
Generation of a Nonhuman Primate Model of Severe Combined Immunodeficiency Using Highly Efficient Genome Editing. ( 27374787 )
2016

Variations for Severe Combined Immunodeficiency

ClinVar genetic disease variations for Severe Combined Immunodeficiency:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 IL7R NM_002185.4(IL7R): c.353G> A (p.Cys118Tyr) single nucleotide variant Pathogenic rs193922641 GRCh37 Chromosome 5, 35867539: 35867539
2 JAK3 NM_000215.3(JAK3): c.1767C> T (p.Gly589=) single nucleotide variant Pathogenic/Likely pathogenic rs193922362 GRCh37 Chromosome 19, 17947957: 17947957
3 JAK3 NM_000215.3(JAK3): c.678_679delCT (p.Cys227Profs) deletion Pathogenic/Likely pathogenic rs193922364 GRCh37 Chromosome 19, 17953307: 17953308
4 RAG1 NM_000448.2(RAG1): c.322C> T (p.Arg108Ter) single nucleotide variant Pathogenic/Likely pathogenic rs193922464 GRCh37 Chromosome 11, 36595176: 36595176

Copy number variations for Severe Combined Immunodeficiency from CNVD:

7
id CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1 209902 16 28100000 34600000 Deletion CORO1A Severe combined immunodeficiency

Expression for Severe Combined Immunodeficiency

Search GEO for disease gene expression data for Severe Combined Immunodeficiency.

Pathways for Severe Combined Immunodeficiency

Pathways related to Severe Combined Immunodeficiency according to GeneCards Suite gene sharing:

(show all 45)
id Super pathways Score Top Affiliating Genes
1
Show member pathways
13.99 CD3D CD3E IL2 IL2RG IL7 IL7R
2
Show member pathways
13.86 CD3D CD3E IL2 IL2RG IL7 IL7R
3
Show member pathways
13.35 IL2 IL2RG IL7 IL7R IL9 JAK3
4
Show member pathways
13.34 CD3D CD3E IL2 IL2RG IL7 IL7R
5
Show member pathways
12.85 CD3D CD3E IL2 IL9 RFX5 RFXAP
6
Show member pathways
12.77 CD3D CD3E IL2 IL2RG JAK3
7
Show member pathways
12.77 IL2 IL2RG IL7 IL7R IL9 JAK3
8
Show member pathways
12.61 CD3D CD3E IL2 PTPRC ZAP70
9
Show member pathways
12.54 CD3D CD3E IL2 IL2RG JAK3 ZAP70
10 12.46 DCLRE1C LIG4 NHEJ1 PRKDC
11 12.4 CD3D CD3E IL2 IL2RG JAK3
12
Show member pathways
12.37 CD3D CD3E IL2 IL9 PTPRC ZAP70
13 12.36 CD3E DCLRE1C IL2 JAK3 PTPRC RAG1
14
Show member pathways
12.34 DCLRE1C LIG4 NHEJ1 PRKDC
15
Show member pathways
12.33 CD3D CD3E PTPRC ZAP70
16
Show member pathways
12.3 CD3D CD3E PTPRC ZAP70
17
Show member pathways
12.29 CD3D CD3E IL2 IL2RG PTPRC ZAP70
18
Show member pathways
12.1 CD3D CD3E IL2 ZAP70
19
Show member pathways
12.08 IL2 IL2RG IL7 IL7R IL9 JAK3
20
Show member pathways
11.97 CD3D CD3E IL2 IL2RG
21
Show member pathways
11.95 CD3D CD3E PTPRC ZAP70
22
Show member pathways
11.93 CD3D CD3E PTPRC ZAP70
23 11.92 CD3E IL2 IL7 IL7R PTPRC
24 11.89 IL2 IL7R JAK3 PTPRC
25
Show member pathways
11.88 CD3E IL2RG JAK3
26 11.85 CD3D CD3E IL7 IL7R
27 11.74 CD3D CD3E PTPRC
28 11.72 CD3D CD3E ZAP70
29 11.72 CD3E IL2 IL7R PTPRC
30 11.71 IL2 IL7 IL7R IL9 PTPRC
31 11.7 CD3D CD3E ZAP70
32
Show member pathways
11.66 IL2 IL2RG JAK3
33
Show member pathways
11.6 CD3D CD3E IL2 IL2RG
34 11.55 CD3E IL7R PTPRC
35 11.52 CD3D CD3E ZAP70
36
Show member pathways
11.41 CD3D IL2 IL2RG
37 11.33 CD3E IL2 IL2RG IL9 JAK3
38 11.32 IL2 IL2RG ZAP70
39 11.2 CD3D CD3E IL2
40
Show member pathways
11.2 IL2RG IL7 IL7R IL9 JAK3
41 11.16 CD3E IL2 IL9
42 11.1 DCLRE1C LIG4 PRKDC
43 11 ADA CD3D CD3E DCLRE1C IL2RG IL7R
44 10.88 IL2RG IL7 IL7R JAK3 RAG1 RAG2
45 10.86 IL2RG IL9

GO Terms for Severe Combined Immunodeficiency

Cellular components related to Severe Combined Immunodeficiency according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 external side of plasma membrane GO:0009897 9.55 ADA CD3E IL2RG IL7R PTPRC
2 alpha-beta T cell receptor complex GO:0042105 9.37 CD3D CD3E
3 DNA-dependent protein kinase-DNA ligase 4 complex GO:0005958 9.32 LIG4 PRKDC
4 DNA ligase IV complex GO:0032807 9.26 LIG4 NHEJ1
5 T cell receptor complex GO:0042101 9.13 CD3D CD3E ZAP70
6 nonhomologous end joining complex GO:0070419 8.92 DCLRE1C LIG4 NHEJ1 PRKDC

Biological processes related to Severe Combined Immunodeficiency according to GeneCards Suite gene sharing:

(show all 36)
id Name GO ID Score Top Affiliating Genes
1 cell surface receptor signaling pathway GO:0007166 9.97 CD3D CD3E IL7R PTPRC
2 adaptive immune response GO:0002250 9.96 DCLRE1C IL2 JAK3 RAG1 ZAP70
3 T cell receptor signaling pathway GO:0050852 9.92 CD3D CD3E PTPRC ZAP70
4 double-strand break repair via nonhomologous end joining GO:0006303 9.84 DCLRE1C LIG4 NHEJ1 PRKDC
5 double-strand break repair GO:0006302 9.83 DCLRE1C LIG4 NHEJ1 PRKDC
6 T cell activation GO:0042110 9.81 ADA CD3E ZAP70
7 positive regulation of T cell proliferation GO:0042102 9.81 CD3E IL2 JAK3 PTPRC
8 response to ionizing radiation GO:0010212 9.8 DCLRE1C LIG4 NHEJ1 PRKDC
9 DNA recombination GO:0006310 9.8 DCLRE1C LIG4 PRKDC RAG1 RAG2
10 response to gamma radiation GO:0010332 9.76 LIG4 PRKDC PTPRC
11 positive regulation of B cell proliferation GO:0030890 9.76 ADA IL2 IL7 PTPRC
12 positive regulation of calcium-mediated signaling GO:0050850 9.72 ADA CD3E ZAP70
13 B cell differentiation GO:0030183 9.72 DCLRE1C JAK3 NHEJ1 RAG1 RAG2
14 negative thymic T cell selection GO:0045060 9.67 CD3E ZAP70
15 positive regulation of organ growth GO:0046622 9.66 IL7 RAG2
16 regulation of T cell differentiation GO:0045580 9.65 ADA RAG1
17 positive regulation of alpha-beta T cell proliferation GO:0046641 9.65 CD3E ZAP70
18 positive regulation of alpha-beta T cell differentiation GO:0046638 9.65 ADA ZAP70
19 T cell differentiation in thymus GO:0033077 9.65 CD3E LIG4 PRKDC RAG1 RAG2
20 positive regulation of T cell differentiation in thymus GO:0033089 9.64 ADA IL7R
21 positive thymic T cell selection GO:0045059 9.64 CD3D ZAP70
22 negative regulation of T cell mediated cytotoxicity GO:0001915 9.63 IL7R PTPRC
23 T cell receptor V(D)J recombination GO:0033153 9.62 LIG4 PRKDC
24 pro-B cell differentiation GO:0002328 9.61 LIG4 PRKDC
25 interleukin-4-mediated signaling pathway GO:0035771 9.61 IL2RG JAK3
26 negative regulation of thymocyte apoptotic process GO:0070244 9.61 ADA JAK3 RAG1
27 B cell lineage commitment GO:0002326 9.6 PRKDC RAG2
28 immunoglobulin V(D)J recombination GO:0033152 9.59 LIG4 PRKDC
29 pre-B cell allelic exclusion GO:0002331 9.58 RAG1 RAG2
30 interleukin-7-mediated signaling pathway GO:0038111 9.57 IL2RG IL7R
31 positive regulation of T cell differentiation GO:0045582 9.55 ADA IL2 IL7 RAG1 ZAP70
32 T cell lineage commitment GO:0002360 9.54 IL7 PRKDC RAG2
33 V(D)J recombination GO:0033151 9.35 DCLRE1C LIG4 PRKDC RAG1 RAG2
34 T cell differentiation GO:0030217 9.17 CD3D IL2 IL7R NHEJ1 PTPRC RAG2
35 immune system process GO:0002376 10.06 CD3E DCLRE1C IL2 JAK3 ZAP70
36 immune response GO:0006955 10.02 IL2 IL2RG IL7 IL7R IL9 RAG1

Molecular functions related to Severe Combined Immunodeficiency according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 Ras guanyl-nucleotide exchange factor activity GO:0005088 9.13 IL2 IL2RG JAK3
2 interleukin-7 receptor activity GO:0004917 8.62 IL2RG IL7R

Sources for Severe Combined Immunodeficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
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36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
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59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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