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 : 53 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.

MalaCards based summary : Severe Combined Immunodeficiency, also known as severe combined immunodeficiency disease, is related to severe combined immunodeficiency, autosomal recessive, t cell-negative, b cell-positive, nk cell-negative and severe combined immunodeficiency with sensitivity to ionizing radiation. 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 Adenosine and alemtuzumab have been mentioned in the context of this disorder. Affiliated tissues include Blood and Blood, and related phenotypes are recurrent urinary tract infections and abnormality of the dentition

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 : 76 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 229)
# Related Disease Score Top Affiliating Genes
1 severe combined immunodeficiency, autosomal recessive, t cell-negative, b cell-positive, nk cell-negative 34.9 JAK3 RAG1 RAG2
2 severe combined immunodeficiency with sensitivity to ionizing radiation 34.8 DCLRE1C LIG4 NHEJ1
3 severe combined immunodeficiency, autosomal recessive, t cell-negative, b cell-positive, nk cell-positive 34.7 CD3D IL7R PTPRC
4 t-b+ severe combined immunodeficiency due to cd3delta/cd3epsilon/cd3zeta 34.1 CD3D CD3E
5 jak3-deficient severe combined immunodeficiency 33.9 IL2 IL9 JAK3
6 immunodeficiency 19 33.5 CD3D JAK3 ZAP70
7 immunodeficiency 18 33.1 CD3D CD3E PTPRC
8 severe combined immunodeficiency, x-linked 33.0 ADA IL2 IL2RG IL7 IL7R IL9
9 omenn syndrome 32.5 ADA DCLRE1C IL2RG IL7R LIG4 RAG1
10 recombinase activating gene 1 deficiency 32.0 RAG1 RAG2
11 artemis deficiency 31.8 DCLRE1C LIG4 PRKDC RAG1
12 interleukin-7 receptor alpha deficiency 31.6 IL2RG IL7 IL7R JAK3
13 lig4 syndrome 31.1 DCLRE1C LIG4 NHEJ1 PRKDC RAG1 RAG2
14 combined cellular and humoral immune defects with granulomas 30.4 RAG1 RAG2
15 bare lymphocyte syndrome, type i 30.1 RFX5 RFXAP ZAP70
16 t cell deficiency 29.9 IL2 IL7R PTPRC ZAP70
17 lymphopenia 29.7 IL2 IL2RG IL7 IL7R RAG1
18 anaplastic large cell lymphoma 29.3 IL9 JAK3 PTPRC
19 combined immunodeficiency, x-linked 22.9 ADA AK2 CD3D DCLRE1C IL2 IL2RG
20 severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation 12.6
21 severe combined immunodeficiency, autosomal recessive, t cell-negative, b cell-negative, nk cell-negative, due to adenosine deaminase deficiency 12.5
22 zap70-related severe combined immunodeficiency 12.4
23 achondroplasia and severe combined immunodeficiency 12.4
24 short-limb skeletal dysplasia with severe combined immunodeficiency 12.2
25 severe combined immunodeficiency, atypical 12.2
26 reticular dysgenesis 12.2
27 adenosine deaminase deficiency 12.1
28 bare lymphocyte syndrome, type ii 12.1
29 immunodeficiency 26 with or without neurologic abnormalities 11.8
30 zap-70 deficiency 11.7
31 immunodeficiency 49 11.7
32 immunodeficiency 52 11.6
33 immunodeficiency 8 11.6
34 immunodeficiency 22 11.6
35 immunodeficiency 11 11.4
36 immunodeficiency 15 11.4
37 immunodeficiency 24 11.4
38 immunodeficiency 17 11.4
39 t-cell immunodeficiency, congenital alopecia, and nail dystrophy 11.3
40 immunodeficiency 9 11.1
41 gastrointestinal defects and immunodeficiency syndrome 10.8
42 purine nucleoside phosphorylase deficiency 10.8
43 immunoskeletal dysplasia with neurodevelopmental abnormalities 10.8
44 cd3zeta deficiency 10.8
45 janus kinase-3 deficiency 10.8
46 recombinase activating gene 2 deficiency 10.8
47 cd45 deficiency 10.8
48 coronin-1a deficiency 10.8
49 malignant histiocytosis 10.4 DCLRE1C RAG1 RAG2
50 b cell linker protein deficiency 10.3 IL7 JAK3

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

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

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Reduced mammosphere formation GR00396-S 9.23 CD3D DCLRE1C IL9 JAK3 PRKDC PTPRC
2 Increased viability with tamoxifen GR00120-A 8.96 CD3E PRKDC

MGI Mouse Phenotypes related to Severe Combined Immunodeficiency:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 10.3 NHEJ1 RAG2 PRKDC ZAP70 PTPRC RAG1
2 endocrine/exocrine gland MP:0005379 10.28 RAG1 NHEJ1 RAG2 PRKDC ZAP70 PTPRC
3 cellular MP:0005384 10.27 LIG4 RAG1 NHEJ1 RAG2 PRKDC PTPRC
4 immune system MP:0005387 10.25 RAG1 NHEJ1 RAG2 PRKDC ZAP70 PTPRC
5 digestive/alimentary MP:0005381 10.13 LIG4 RAG1 RAG2 PRKDC PTPRC IL9
6 neoplasm MP:0002006 9.85 LIG4 RAG1 NHEJ1 RAG2 PRKDC PTPRC
7 liver/biliary system MP:0005370 9.8 LIG4 RAG1 RAG2 PRKDC PTPRC IL2
8 normal MP:0002873 9.56 RAG1 RAG2 ZAP70 PTPRC IL7R IL9
9 respiratory system MP:0005388 9.23 RAG1 RAG2 PRKDC ZAP70 PTPRC IL2

Drugs & Therapeutics for Severe Combined Immunodeficiency

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

(show top 50) (show all 89)
# 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 Antibodies Phase 3,Phase 1,Phase 2
16 gamma-Globulins Phase 3
17 Immunoglobulin G Phase 3
18 Immunoglobulins Phase 3,Phase 1,Phase 2
19 Immunoglobulins, Intravenous Phase 3
20 Rho(D) Immune Globulin Phase 3
21
Lenograstim Approved, Investigational Phase 2,Phase 1 135968-09-1
22
Melphalan Approved Phase 2,Not Applicable 148-82-3 4053 460612
23
Thiotepa Approved, Investigational Phase 2 52-24-4 5453
24
Hydroxyurea Approved Phase 2 127-07-1 3657
25
Mechlorethamine Approved, Investigational Phase 2 51-75-2 4033
26
Methotrexate Approved Phase 2,Not Applicable 1959-05-2, 59-05-2 126941
27
Mycophenolate mofetil Approved, Investigational Phase 2,Phase 1 128794-94-5 5281078
28
Mycophenolic acid Approved Phase 2,Phase 1 24280-93-1 446541
29
Tacrolimus Approved, Investigational Phase 2 104987-11-3 445643 439492
30
Miconazole Approved, Investigational, Vet_approved Phase 2,Phase 1,Not Applicable 22916-47-8 4189
31
Folic Acid Approved, Nutraceutical, Vet_approved Phase 2,Not Applicable 59-30-3 6037
32
leucovorin Approved, Nutraceutical Phase 2,Not Applicable 58-05-9 143 6006
33 Analgesics Phase 2,Phase 1
34 Anti-Arrhythmia Agents Phase 2,Phase 1
35 Neurotransmitter Agents Phase 2,Phase 1
36 Peripheral Nervous System Agents Phase 2,Phase 1,Not Applicable
37 Vasodilator Agents Phase 2,Phase 1
38 Antilymphocyte Serum Phase 1, Phase 2,Not Applicable
39 Nucleic Acid Synthesis Inhibitors Phase 2,Not Applicable
40 Anesthetics Phase 1, Phase 2
41 Anti-Bacterial Agents Phase 2,Phase 1
42 Antibiotics, Antitubercular Phase 2,Phase 1
43 Antitubercular Agents Phase 2,Phase 1
44 Calcineurin Inhibitors Phase 2,Phase 1,Not Applicable
45 Dermatologic Agents Phase 2,Phase 1,Not Applicable
46 Folic Acid Antagonists Phase 2,Not Applicable
47 Vidarabine Phosphate Phase 2
48 Vitamin B Complex Phase 2,Not Applicable
49 Antifungal Agents Phase 2,Phase 1,Not Applicable
50 Hormones Phase 1, Phase 2,Not Applicable

Interventional clinical trials:

(show top 50) (show all 66)
# 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 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
4 EZN-2279 in Patients With ADA-SCID Recruiting NCT01420627 Phase 3
5 Gene Therapy for X-linked Severe Combined Immunodeficiency Unknown status NCT01410019 Phase 1, Phase 2
6 MND-ADA Transduction of CD34+ Cells From Children With ADA-SCID Completed NCT00794508 Phase 2
7 Gene Therapy for ADA-SCID Completed NCT00599781 Phase 1, Phase 2
8 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
9 Gene Therapy ADA Deficiency Completed NCT01279720 Phase 1, Phase 2
10 Cord Blood Stem Cell Transplantation Study (COBLT) Completed NCT00000603 Phase 2
11 Autologous Gene Therapy for Artemis-Deficient SCID Recruiting NCT03538899 Phase 1, Phase 2 AProArt;Busulfan
12 Gene Transfer for X-Linked Severe Combined Immunodeficiency in Newly Diagnosed Infants Recruiting NCT01512888 Phase 1, Phase 2 Busulfan
13 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
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 Gene Transfer for SCID-X1 Using a Self-inactivating Lentiviral Vector Recruiting NCT03217617 Phase 1, Phase 2
16 Lentiviral Gene Therapy for Adenosine Deaminase (ADA) Deficiency Recruiting NCT01380990 Phase 1, Phase 2
17 Phase I/II Trial of Lentiviral Gene Transfer for SCID-X1 With Low Dose Targeted Busulfan Conditioning Recruiting NCT03311503 Phase 1, Phase 2
18 Immune Disorder HSCT Protocol Recruiting NCT01821781 Phase 2 Transplant preparative regimen of alemtuzumab, fludarabine, thiotepa, and melphalan
19 Busulfan, Fludarabine, and Thiotepa Conditioning Regimen for Non Malignant Disease Recruiting NCT03513328 Phase 1, Phase 2 Thiotepa--single daily dose;Thiotepa--escalated dose
20 Alpha/Beta T and CD19+ Depleted Peripheral Stem Cells for Patients With Primary Immunodeficiencies Recruiting NCT02990819 Phase 2
21 Reduced Intensity Conditioning for Non-Malignant Disorders Undergoing UCBT, BMT or PBSCT Recruiting NCT01962415 Phase 2 Hydroxyurea;Alemtuzumab;Fludarabine;Melphalan;Thiotepa
22 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
23 Autologous Cryopreserved CD34+ Hematopoietic Cells Transduced With EFS-ADA Lentivirus for ADA SCID Active, not recruiting NCT02999984 Phase 1, Phase 2
24 Autologous Transplant of EFS-ADA Modified Bone Marrow Cells for ADA-Deficient Severe Combined Immunodeficiency (SCID) Active, not recruiting NCT01852071 Phase 1, Phase 2
25 ADA Gene Transfer Into Hematopoietic Stem/Progenitor Cells for the Treatment of ADA-SCID Active, not recruiting NCT00598481 Phase 2
26 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
27 Sequential Cadaveric Lung and Bone Marrow Transplant for Immune Deficiency Diseases Enrolling by invitation NCT01852370 Phase 1, Phase 2
28 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
29 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
30 SCID Bu/Flu/ATG Study With T Cell Depletion Terminated NCT02127892 Phase 1, Phase 2
31 Allogeneic SCT Of Pts With SCID And Other Primary Immunodeficiency Disorders Terminated NCT00579137 Phase 1, Phase 2 Fludarabine
32 Sirolimus Prophylaxis for aGVHD in TME SCID Withdrawn NCT02177760 Phase 2 Sirolimus
33 Transplantation of Hematopoietic Cells in Children With Severe Combined Immunodeficiency Syndrome Completed NCT00152100 Phase 1 Filgrastim, Alemtuzumab
34 Stem Cell Gene Therapy to Treat X-Linked Severe Combined Immunodeficiency (XSCID) Completed NCT00028236 Phase 1 Gene-Transduced Autologous CD34+ Stem Cells
35 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
36 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
37 Multivirus-specific Cytotoxic T Lymphocytes (mCTL) Recruiting NCT02510404 Phase 1
38 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
39 Human Placental-Derived Stem Cell Transplantation Active, not recruiting NCT01586455 Phase 1 Human Placental Derived Stem Cell
40 Safety and Early Efficacy Study of TBX-1400 in Patients With Severe Combined Immunodeficiency Not yet recruiting NCT02860559 Phase 1
41 Safety Study of Gene Modified Donor T Cell Infusion After Stem Cell Transplant for Non-Malignant Diseases Terminated NCT02231710 Phase 1
42 Clinical Characteristics and Genetic Profiles of Severe Combined Immunodeficiency in China Unknown status NCT02231983
43 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
44 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
45 Influences on Female Adolescents' Decisions Regarding Testing for Carrier Status of XSCID Completed NCT00006335
46 Newborn Screening for Severe Combined Immunodeficiency (SCID) in a High-Risk Population Completed NCT00845416
47 Developing Newborn Screening for Infants With Primary Immunodeficiency Completed NCT00113464
48 Neonatal Screening of Severe Combined Immunodeficiencies Recruiting NCT02590328
49 Phase IV, GSK2696273, Registry Study to Follow-up Patients With Adenosine Deaminase Severe Combined Immunodeficiency (ADA-SCID) Recruiting NCT03478670
50 Genetic Basis of Immunodeficiency Recruiting NCT00055172

Search NIH Clinical Center for Severe Combined Immunodeficiency

Inferred drug relations via UMLS 73 / NDF-RT 51 :


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:

# Genetic test Affiliating Genes
1 Severe Combined Immunodeficiency Disease 29

Anatomical Context for Severe Combined Immunodeficiency

MalaCards organs/tissues related to Severe Combined Immunodeficiency:

41
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:
# 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 936)
# 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
Bacterial and <i>Pneumocystis</i> Infections in the Lungs of Gene-Knockout Rabbits with Severe Combined Immunodeficiency. ( 29593714 )
2018
5
Antiviral T Cells for Adenovirus in the Pretransplant Period: A Bridge Therapy for Severe Combined Immunodeficiency. ( 29753156 )
2018
6
EBV-positive B-cell lymphoma manifestation of the liver in an infant with RAG1 severe combined immunodeficiency disease. ( 29856523 )
2018
7
Molecular diagnosis of severe combined immunodeficiency using whole-exome sequencing. ( 29937439 )
2018
8
Fatal P. jirovecii and Cytomegalovirus Infections in an Infant with Normal Trecs Count: Pitfalls of Newborn Screening for Severe Combined Immunodeficiency. ( 29613974 )
2018
9
BCGosis in Infants with Severe Combined ImmunoDeficiency (SCID). ( 29417456 )
2018
10
T<sup>+</sup> NK<sup>+</sup> IL-2 Receptor I^ Chain Mutation: a Challenging Diagnosis of Atypical Severe Combined Immunodeficiency. ( 29948574 )
2018
11
Severe Combined Immunodeficiency: A Case Series and Review from a Tertiary Pediatric Hospital. ( 29757593 )
2018
12
Severe combined immunodeficiency in Sting V154M/WT mice. ( 29800647 )
2018
13
Co-appearance of OPV and BCG vaccine-derived complications in two infants with severe combined immunodeficiency. ( 29804197 )
2018
14
X-Linked Severe Combined Immunodeficiency and Hepatoblastoma: A Case Report and Review of Literature. ( 29620683 )
2018
15
Late presenting atypical severe combined immunodeficiency (SCID) associated with a novel missense mutation in DCLRE1C. ( 28981982 )
2018
16
High Rates of Positive Severe Combined Immunodeficiency Screening Among Newborns with Severe Intestinal Failure. ( 29505141 )
2018
17
First Occurrence of Plasmablastic Lymphoma in Adenosine Deaminase-Deficient Severe Combined Immunodeficiency Disease Patient and Review of the Literature. ( 29456531 )
2018
18
A novel pathogenic mutation on Interleukin-7 receptor leading to severe combined immunodeficiency identified with newborn screening and whole exome sequencing. ( 29551298 )
2018
19
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
20
Newborn Screening for Severe Combined Immunodeficiency. ( 29749587 )
2018
21
Identification of 22q11.2 Deletion Syndrome via Newborn Screening for Severe Combined Immunodeficiency. ( 28540525 )
2017
22
A Novel PGM3 Mutation Is Associated With a Severe Phenotype of Bone Marrow Failure, Severe Combined Immunodeficiency, Skeletal Dysplasia, and Congenital Malformations. ( 28543917 )
2017
23
Newborn screening for severe combined immunodeficiency: Evaluation of a commercial T-cell receptor excision circle-based method in Victorian dried blood spots. ( 28861919 )
2017
24
A novel PAX1 null homozygous mutation in autosomal recessive otofaciocervical syndrome associated with severe combined immunodeficiency. ( 28657137 )
2017
25
Medical Devices; Immunology and Microbiology Devices; Classification of the Newborn Screening Test for Severe Combined Immunodeficiency Disorder. Final order. ( 29091371 )
2017
26
A Practical Approach to Newborn Screening for Severe Combined Immunodeficiency Using the T Cell Receptor Excision Circle Assay. ( 29167668 )
2017
27
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
28
Hepatic Legionella pneumophila Infection in an Infant with Severe Combined Immunodeficiency. ( 28938259 )
2017
29
Mutation c.256_257delAA in RAG1 Gene in Polish Children with Severe Combined Immunodeficiency: Diversity of Clinical Manifestations. ( 28083621 )
2017
30
Identification of Novel JAK3 Mutations by Whole-Exome Sequencing in a Korean Boy With Severe Combined Immunodeficiency. ( 28570225 )
2017
31
Severe combined immunodeficiency: From its discovery to the perspective. ( 28747600 )
2017
32
A case of severe combined immunodeficiency caused by adenosine deaminase deficiency with a new mutation. ( 28823388 )
2017
33
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
34
Topical Cidofovir for Recalcitrant Verrucae in Individuals with Severe Combined Immunodeficiency After Hematopoietic Stem Cell Transplantation. ( 27699886 )
2017
35
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
36
A Droplet Digital PCR Method for Severe Combined Immunodeficiency Newborn Screening. ( 28826609 )
2017
37
Novel compound heterozygous mutations in ZAP70 in a Chinese patient with leaky severe combined immunodeficiency disorder. ( 28124082 )
2017
38
T Cell Lymphoma and Leukemia in Severe Combined Immunodeficiency Pigs following Bone Marrow Transplantation: A Case Report. ( 28747915 )
2017
39
Inhibition of TRPML1 by lysosomal adenosine involved in severe combined immunodeficiency diseases. ( 28087698 )
2017
40
FOXN1 deficient nude severe combined immunodeficiency. ( 28077132 )
2017
41
Life-threatening systemic rotavirus infection after vaccination in Severe Combined Immunodeficiency (SCID). ( 28815852 )
2017
42
First Year of Israeli Newborn Screening for Severe Combined Immunodeficiency-Clinical Achievements and Insights. ( 29167666 )
2017
43
Haematopoietic stem cell transplantation for severe combined immunodeficiency: Long-term health outcomes and patient perspectives. ( 28513891 )
2017
44
Development of fresh and vitrified agouti ovarian tissue after xenografting to ovariectomised severe combined immunodeficiency (SCID) mice. ( 28784201 )
2017
45
Long term outcomes of severe combined immunodeficiency: therapy implications. ( 28918671 )
2017
46
Disseminated papular lesions as a unique manifestation heralding bacille Calmette-GuAcrin infection in a patient with T-B+NK- severe combined immunodeficiency. ( 28597928 )
2017
47
Family History of Early Infant Death Correlates with Earlier Age at Diagnosis But Not Shorter Time to Diagnosis for Severe Combined Immunodeficiency. ( 28747913 )
2017
48
Acute Myeloid Leukemia in a Patient With X-linked Severe Combined Immunodeficiency. ( 28678090 )
2017
49
Maternal T and B cell engraftment in two cases of X-linked severe combined immunodeficiency with IgG1 gammopathy. ( 28780374 )
2017
50
Newborn screening for severe combined immunodeficiency: a primer for clinicians. ( 29255099 )
2017

Variations for Severe Combined Immunodeficiency

ClinVar genetic disease variations for Severe Combined Immunodeficiency:

6
(show all 38)
# Gene Variation Type Significance SNP ID Assembly Location
1 ADA NM_000022.3(ADA): c.872C> G (p.Ser291Trp) single nucleotide variant Likely pathogenic rs121908721 GRCh37 Chromosome 20, 43249762: 43249762
2 ADA NM_000022.3(ADA): c.872C> G (p.Ser291Trp) single nucleotide variant Likely pathogenic rs121908721 GRCh38 Chromosome 20, 44621121: 44621121
3 IL7R NM_002185.4(IL7R): c.271_280dup (p.Ile94Asnfs) duplication Likely pathogenic rs193922640 GRCh37 Chromosome 5, 35867457: 35867466
4 IL7R NM_002185.4(IL7R): c.271_280dup (p.Ile94Asnfs) duplication Likely pathogenic rs193922640 GRCh38 Chromosome 5, 35867355: 35867364
5 IL7R NM_002185.4(IL7R): c.353G> A (p.Cys118Tyr) single nucleotide variant Pathogenic rs193922641 GRCh37 Chromosome 5, 35867539: 35867539
6 IL7R NM_002185.4(IL7R): c.353G> A (p.Cys118Tyr) single nucleotide variant Pathogenic rs193922641 GRCh38 Chromosome 5, 35867437: 35867437
7 IL7R NM_002185.4(IL7R): c.539A> C (p.His180Pro) single nucleotide variant Likely pathogenic rs193922642 GRCh37 Chromosome 5, 35873583: 35873583
8 IL7R NM_002185.4(IL7R): c.539A> C (p.His180Pro) single nucleotide variant Likely pathogenic rs193922642 GRCh38 Chromosome 5, 35873481: 35873481
9 IL7R NM_002185.4(IL7R): c.616_617delCGinsTA (p.Arg206Ter) indel Likely pathogenic rs193922643 GRCh37 Chromosome 5, 35873660: 35873661
10 IL7R NM_002185.4(IL7R): c.616_617delCGinsTA (p.Arg206Ter) indel Likely pathogenic rs193922643 GRCh38 Chromosome 5, 35873558: 35873559
11 IL7R NM_002185.4(IL7R): c.617G> A (p.Arg206Gln) single nucleotide variant Likely pathogenic rs193922644 GRCh37 Chromosome 5, 35873661: 35873661
12 IL7R NM_002185.4(IL7R): c.617G> A (p.Arg206Gln) single nucleotide variant Likely pathogenic rs193922644 GRCh38 Chromosome 5, 35873559: 35873559
13 IL7R NM_002185.4(IL7R): c.644G> T (p.Gly215Val) single nucleotide variant Likely pathogenic rs193922645 GRCh37 Chromosome 5, 35873688: 35873688
14 IL7R NM_002185.4(IL7R): c.644G> T (p.Gly215Val) single nucleotide variant Likely pathogenic rs193922645 GRCh38 Chromosome 5, 35873586: 35873586
15 IL7R NM_002185.4(IL7R): c.882A> C (p.Leu294Phe) single nucleotide variant Likely pathogenic rs193922647 GRCh37 Chromosome 5, 35876090: 35876090
16 IL7R NM_002185.4(IL7R): c.882A> C (p.Leu294Phe) single nucleotide variant Likely pathogenic rs193922647 GRCh38 Chromosome 5, 35875988: 35875988
17 JAK3 NM_000215.3(JAK3): c.1744C> T (p.Arg582Trp) single nucleotide variant Likely pathogenic rs193922361 GRCh37 Chromosome 19, 17947980: 17947980
18 JAK3 NM_000215.3(JAK3): c.1744C> T (p.Arg582Trp) single nucleotide variant Likely pathogenic rs193922361 GRCh38 Chromosome 19, 17837171: 17837171
19 JAK3 NM_000215.3(JAK3): c.1767C> T (p.Gly589=) single nucleotide variant Pathogenic/Likely pathogenic rs193922362 GRCh37 Chromosome 19, 17947957: 17947957
20 JAK3 NM_000215.3(JAK3): c.1767C> T (p.Gly589=) single nucleotide variant Pathogenic/Likely pathogenic rs193922362 GRCh38 Chromosome 19, 17837148: 17837148
21 JAK3 NM_000215.3(JAK3): c.678_679delCT (p.Cys227Profs) deletion Pathogenic/Likely pathogenic rs193922364 GRCh37 Chromosome 19, 17953307: 17953308
22 JAK3 NM_000215.3(JAK3): c.678_679delCT (p.Cys227Profs) deletion Pathogenic/Likely pathogenic rs193922364 GRCh38 Chromosome 19, 17842498: 17842499
23 RAG1 NM_000448.2(RAG1): c.2603C> T (p.Ala868Val) single nucleotide variant Likely pathogenic rs193922462 GRCh37 Chromosome 11, 36597457: 36597457
24 RAG1 NM_000448.2(RAG1): c.2603C> T (p.Ala868Val) single nucleotide variant Likely pathogenic rs193922462 GRCh38 Chromosome 11, 36575907: 36575907
25 RAG1 NM_000448.2(RAG1): c.322C> T (p.Arg108Ter) single nucleotide variant Pathogenic/Likely pathogenic rs193922464 GRCh37 Chromosome 11, 36595176: 36595176
26 RAG1 NM_000448.2(RAG1): c.322C> T (p.Arg108Ter) single nucleotide variant Pathogenic/Likely pathogenic rs193922464 GRCh38 Chromosome 11, 36573626: 36573626
27 RAG2 NM_000536.3(RAG2): c.104G> C (p.Gly35Ala) single nucleotide variant Likely pathogenic rs148508754 GRCh37 Chromosome 11, 36615615: 36615615
28 RAG2 NM_000536.3(RAG2): c.104G> C (p.Gly35Ala) single nucleotide variant Likely pathogenic rs148508754 GRCh38 Chromosome 11, 36594065: 36594065
29 RAG2 NM_000536.3(RAG2): c.1309G> A (p.Glu437Lys) single nucleotide variant Likely pathogenic rs193922573 GRCh37 Chromosome 11, 36614410: 36614410
30 RAG2 NM_000536.3(RAG2): c.1309G> A (p.Glu437Lys) single nucleotide variant Likely pathogenic rs193922573 GRCh38 Chromosome 11, 36592860: 36592860
31 RAG2 NM_000536.3(RAG2): c.217C> T (p.Arg73Cys) single nucleotide variant Likely pathogenic rs193922574 GRCh37 Chromosome 11, 36615502: 36615502
32 RAG2 NM_000536.3(RAG2): c.217C> T (p.Arg73Cys) single nucleotide variant Likely pathogenic rs193922574 GRCh38 Chromosome 11, 36593952: 36593952
33 RAG2 NM_000536.3(RAG2): c.328A> C (p.Met110Leu) single nucleotide variant Likely pathogenic rs193922575 GRCh37 Chromosome 11, 36615391: 36615391
34 RAG2 NM_000536.3(RAG2): c.328A> C (p.Met110Leu) single nucleotide variant Likely pathogenic rs193922575 GRCh38 Chromosome 11, 36593841: 36593841
35 JAK3 NM_000215.3(JAK3): c.2143G> A (p.Val715Ile) single nucleotide variant Likely pathogenic rs1057520020 GRCh37 Chromosome 19, 17945717: 17945717
36 JAK3 NM_000215.3(JAK3): c.2143G> A (p.Val715Ile) single nucleotide variant Likely pathogenic rs1057520020 GRCh38 Chromosome 19, 17834908: 17834908
37 JAK3 NM_000215.3(JAK3): c.1291C> T (p.Arg431Trp) single nucleotide variant not provided GRCh38 Chromosome 19, 17839627: 17839627
38 JAK3 NM_000215.3(JAK3): c.1291C> T (p.Arg431Trp) single nucleotide variant not provided GRCh37 Chromosome 19, 17950436: 17950436

Copy number variations for Severe Combined Immunodeficiency from CNVD:

7
# 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 46)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.97 CD3D CD3E IL2 IL2RG IL7 IL7R
2
Show member pathways
13.85 CD3D CD3E IL2 IL2RG IL7 IL7R
3
Show member pathways
13.34 IL2 IL2RG IL7 IL7R IL9 JAK3
4
Show member pathways
13.32 CD3D CD3E IL2 IL2RG IL7 IL7R
5
Show member pathways
12.89 IL2 IL2RG IL7 IL7R IL9 JAK3
6
Show member pathways
12.87 CD3D CD3E JAK3 PTPRC ZAP70
7 12.81 IL2 IL2RG IL7 IL7R JAK3
8
Show member pathways
12.78 CD3D CD3E IL2 IL2RG JAK3
9
Show member pathways
12.75 CD3D CD3E IL2 IL9 PTPRC RFX5
10
Show member pathways
12.61 IL2 IL2RG IL7 IL7R IL9 JAK3
11 12.47 DCLRE1C LIG4 NHEJ1 PRKDC
12
Show member pathways
12.42 CD3D CD3E IL2 IL2RG JAK3 ZAP70
13 12.4 CD3D CD3E IL2 IL2RG JAK3
14
Show member pathways
12.4 CD3D CD3E IL2 IL9 PTPRC ZAP70
15 12.38 CD3E DCLRE1C IL2 JAK3 PTPRC RAG1
16
Show member pathways
12.34 DCLRE1C LIG4 NHEJ1 PRKDC
17
Show member pathways
12.33 CD3D CD3E PTPRC ZAP70
18
Show member pathways
12.3 CD3D CD3E PTPRC ZAP70
19
Show member pathways
12.29 CD3D CD3E IL2 IL2RG PTPRC ZAP70
20
Show member pathways
12.24 CD3E IL2 IL2RG JAK3
21
Show member pathways
12.13 CD3D CD3E IL2 IL2RG JAK3
22
Show member pathways
12.11 CD3D CD3E IL2 ZAP70
23
Show member pathways
12.06 IL2 IL2RG IL7 IL7R IL9
24
Show member pathways
11.98 CD3D CD3E IL2 IL2RG
25
Show member pathways
11.96 CD3D CD3E PTPRC ZAP70
26
Show member pathways
11.95 CD3D CD3E PTPRC ZAP70
27 11.92 CD3E IL2 IL7 IL7R PTPRC
28 11.89 IL2 IL7R JAK3 PTPRC
29 11.87 CD3D CD3E IL7 IL7R
30 11.74 CD3D CD3E PTPRC
31 11.73 CD3E IL2 IL7R PTPRC
32 11.72 CD3D CD3E ZAP70
33 11.7 CD3D CD3E ZAP70
34
Show member pathways
11.67 IL2 IL2RG JAK3
35 11.67 IL2 IL7 IL7R IL9 PTPRC
36
Show member pathways
11.63 CD3D CD3E IL2 IL2RG
37 11.56 CD3E IL7R PTPRC
38 11.52 CD3D CD3E ZAP70
39 11.32 IL2 IL2RG ZAP70
40
Show member pathways
11.32 IL2RG IL7 IL7R IL9 JAK3
41 11.23 CD3D CD3E IL2
42 11.22 CD3E IL2 IL2RG IL9 JAK3
43 11.18 CD3E IL2 IL9
44 11.13 DCLRE1C LIG4 PRKDC
45 11 ADA CD3D CD3E DCLRE1C IL2RG IL7R
46 10.88 IL2RG IL7 IL7R JAK3 RAG1 RAG2

GO Terms for Severe Combined Immunodeficiency

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

# 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 41)
# Name GO ID Score Top Affiliating Genes
1 cell surface receptor signaling pathway GO:0007166 9.99 CD3D CD3E IL7R PTPRC
2 T cell receptor signaling pathway GO:0050852 9.95 CD3D CD3E PTPRC ZAP70
3 adaptive immune response GO:0002250 9.91 CD3D CD3E DCLRE1C IL2 JAK3 RAG1
4 double-strand break repair via nonhomologous end joining GO:0006303 9.88 DCLRE1C LIG4 NHEJ1 PRKDC
5 double-strand break repair GO:0006302 9.88 DCLRE1C LIG4 NHEJ1 PRKDC
6 positive regulation of T cell proliferation GO:0042102 9.87 CD3E IL2 JAK3 PTPRC
7 response to ionizing radiation GO:0010212 9.84 DCLRE1C LIG4 NHEJ1 PRKDC
8 T cell activation GO:0042110 9.82 ADA CD3E ZAP70
9 positive regulation of B cell proliferation GO:0030890 9.81 ADA IL2 IL7 PTPRC
10 B cell differentiation GO:0030183 9.8 DCLRE1C JAK3 NHEJ1 RAG1 RAG2
11 DNA recombination GO:0006310 9.8 DCLRE1C LIG4 NHEJ1 PRKDC RAG1 RAG2
12 positive regulation of calcium-mediated signaling GO:0050850 9.77 ADA CD3E ZAP70
13 interleukin-7-mediated signaling pathway GO:0038111 9.76 IL2RG IL7 IL7R JAK3
14 interleukin-2-mediated signaling pathway GO:0038110 9.72 IL2 IL2RG JAK3
15 regulation of T cell differentiation GO:0045580 9.68 ADA RAG1
16 interleukin-15-mediated signaling pathway GO:0035723 9.68 IL2RG JAK3
17 positive regulation of organ growth GO:0046622 9.68 IL7 RAG2
18 negative thymic T cell selection GO:0045060 9.67 CD3E ZAP70
19 positive regulation of alpha-beta T cell differentiation GO:0046638 9.67 ADA ZAP70
20 positive regulation of T cell differentiation in thymus GO:0033089 9.67 ADA IL7R
21 negative regulation of thymocyte apoptotic process GO:0070244 9.67 ADA JAK3 RAG1
22 negative regulation of T cell apoptotic process GO:0070233 9.66 IL7R RAG1
23 interleukin-21-mediated signaling pathway GO:0038114 9.66 IL2RG JAK3
24 positive regulation of alpha-beta T cell proliferation GO:0046641 9.65 CD3E ZAP70
25 positive thymic T cell selection GO:0045059 9.65 CD3D ZAP70
26 T cell lineage commitment GO:0002360 9.65 IL7 PRKDC RAG2
27 T cell differentiation in thymus GO:0033077 9.65 CD3E LIG4 PRKDC RAG1 RAG2
28 negative regulation of T cell mediated cytotoxicity GO:0001915 9.64 IL7R PTPRC
29 T cell receptor V(D)J recombination GO:0033153 9.63 LIG4 PRKDC
30 interleukin-4-mediated signaling pathway GO:0035771 9.63 IL2RG JAK3
31 B cell lineage commitment GO:0002326 9.62 PRKDC RAG2
32 pro-B cell differentiation GO:0002328 9.62 LIG4 PRKDC
33 pre-B cell allelic exclusion GO:0002331 9.61 RAG1 RAG2
34 interleukin-9-mediated signaling pathway GO:0038113 9.61 IL2RG IL9 JAK3
35 immunoglobulin V(D)J recombination GO:0033152 9.6 LIG4 PRKDC
36 positive regulation of T cell differentiation GO:0045582 9.55 ADA IL2 IL7 RAG1 ZAP70
37 V(D)J recombination GO:0033151 9.35 DCLRE1C LIG4 PRKDC RAG1 RAG2
38 T cell differentiation GO:0030217 9.17 CD3D IL2 IL7R NHEJ1 PTPRC RAG2
39 immune system process GO:0002376 10.1 CD3D CD3E DCLRE1C IL2 JAK3 PRKDC
40 immune response GO:0006955 10.07 IL2 IL2RG IL7 IL7R IL9 RAG1
41 cytokine-mediated signaling pathway GO:0019221 10.01 IL2 IL2RG IL7 IL7R JAK3

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

# 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
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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