SCID
MCID: SVR004
MIFTS: 69

Severe Combined Immunodeficiency (SCID) malady

Categories: Rare diseases, Immune diseases

Aliases & Classifications for Severe Combined Immunodeficiency

Aliases & Descriptions for Severe Combined Immunodeficiency:

Name: Severe Combined Immunodeficiency 38 12 50 29 29 52 14 69
Scid 12 50
Combined T and B Cell Inborn Immunodeficiency 12

Classifications:



External Ids:

Disease Ontology 12 DOID:627
MeSH 42 D016511
NCIt 47 C3472
SNOMED-CT 64 190994004 31323000
UMLS 69 C0085110

Summaries for Severe Combined Immunodeficiency

NIH Rare Diseases : 50 severe combined immunodeficiencies (scid) are inherited immune 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, affected children 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 effective treatment is transplantation of blood-forming stem cells from the bone marrow of a healthy person. without treatment, affected children rarely live past the age of two. last updated: 5/27/2014

MalaCards based summary : Severe Combined Immunodeficiency, also known as scid, is related to interleukin-7 receptor alpha deficiency and coronin-1a deficiency, and has symptoms including fever, failure to thrive and chronic otitis media. 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 Ritonavir and Lopinavir have been mentioned in the context of this disorder. Affiliated tissues include Blood and Blood, and related phenotypes are hematopoietic system and endocrine/exocrine gland

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 : 71 Severe combined immunodeficiency, SCID, also known as alymphocytosis, Glanzmann–Riniker syndrome,... 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 221)
id Related Disease Score Top Affiliating Genes
1 interleukin-7 receptor alpha deficiency 31.5 RAG1 RAG2
2 coronin-1a deficiency 31.4 CD3D JAK3 ZAP70
3 cd3gamma deficiency 31.3 IL2RG IL7 IL7R JAK3
4 recombinase activating gene 1 deficiency 31.1 DCLRE1C LIG4 PRKDC RAG1
5 combined cellular and humoral immune defects with granulomas 30.6 JAK3 RAG1 RAG2
6 severe combined immunodeficiency, x-linked 12.6
7 severe combined immunodeficiency, athabascan type 12.5
8 severe combined immunodeficiency, t cell-negative, b-cell/natural killer-cell positive 12.5
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 severe combined immunodeficiency due to ada deficiency 12.3
13 achondroplasia and severe combined immunodeficiency 12.3
14 t-b+ severe combined immunodeficiency due to cd3delta/cd3epsilon/cd3zeta 12.1
15 adenosine deaminase deficiency 12.1
16 short-limb skeletal dysplasia with severe combined immunodeficiency 12.0
17 reticular dysgenesis 12.0
18 severe combined immunodeficiency, atypical 12.0
19 scid, autosomal recessive, t-negative/b-positive type 11.9
20 omenn syndrome 11.8
21 immunodeficiency 26, with or without neurologic abnormalities 11.7
22 zap-70 deficiency 11.6
23 immunodeficiency 18 11.6
24 bare lymphocyte syndrome, type ii, complementation group c 11.5
25 immunodeficiency 19 11.5
26 immunodeficiency 49 11.4
27 immunodeficiency 22 11.4
28 immunodeficiency 8 11.4
29 immunodeficiency 24 11.3
30 immunodeficiency 11 11.3
31 immunodeficiency 15 11.3
32 immunodeficiency 17, cd3 gamma deficient 11.2
33 mhc class ii deficiency 11.2
34 artemis deficiency 11.0
35 cd3delta deficiency 11.0
36 immunodeficiency 9 10.9
37 severe combined immune deficiency 10.9
38 severe combined immune deficiency, autosomal recessive t cell-negative, b cell-positive, nk cell-positive, ptprc-related 10.9
39 severe combined immune deficiency, autosomal recessive, t cell-negative, b cell-negative, nk cell-positive, rag1/rag2-related 10.9
40 t-cell immunodeficiency, congenital alopecia, and nail dystrophy 10.9
41 cd3zeta deficiency 10.7
42 janus kinase-3 deficiency 10.7
43 recombinase activating gene 2 deficiency 10.7
44 bare lymphocyte syndrome, type i 10.7
45 cd45 deficiency 10.7
46 immunodeficiency due to purine nucleoside phosphorylase deficiency 10.7
47 cd3epsilon deficiency 10.7
48 gastrointestinal defects and immunodeficiency syndrome 10.7
49 slc6a20-related hyperglycinuria 10.3 RAG1 RAG2
50 nephrotic syndrome, type 4 10.3 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 fever 32 HP:0001945
2 failure to thrive 32 HP:0001508
3 chronic otitis media 32 HP:0000389
4 splenomegaly 32 HP:0001744
5 recurrent respiratory infections 32 HP:0002205
6 hepatomegaly 32 HP:0002240
7 abnormality of the teeth 32 HP:0000164
8 microcephaly 32 HP:0000252
9 sensorineural hearing impairment 32 HP:0000407
10 lymphopenia 32 HP:0001888
11 skin rash 32 HP:0000988
12 alopecia 32 HP:0001596
13 chronic diarrhea 32 HP:0002028
14 sepsis 32 HP:0100806
15 recurrent urinary tract infections 32 HP:0000010
16 severe combined immunodeficiency 32 HP:0004430

MGI Mouse Phenotypes related to Severe Combined Immunodeficiency:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 10.38 JAK3 LIG4 NHEJ1 PRKDC PTPRC RAG1
2 endocrine/exocrine gland MP:0005379 10.34 IL15 IL2 IL2RG IL4 IL7 IL7R
3 immune system MP:0005387 10.3 ADA CD3D DCLRE1C IL15 IL2 IL21
4 cellular MP:0005384 10.26 DCLRE1C IL2 IL2RG IL4 IL7R JAK3
5 digestive/alimentary MP:0005381 10.2 ADA IL2 IL2RG IL4 IL9 JAK3
6 homeostasis/metabolism MP:0005376 10.15 ADA IL2 IL21 IL2RG IL4 IL9
7 liver/biliary system MP:0005370 9.86 LIG4 PRKDC PTPRC RAG1 RAG2 ADA
8 neoplasm MP:0002006 9.81 LIG4 NHEJ1 PRKDC PTPRC RAG1 RAG2
9 normal MP:0002873 9.65 ADA IL21 IL2RG IL4 IL7R IL9
10 respiratory system MP:0005388 9.28 ADA IL2 IL2RG IL4 PRKDC PTPRC

Drugs & Therapeutics for Severe Combined Immunodeficiency

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

(show top 50) (show all 329)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Ritonavir Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 155213-67-5 392622
2
Lopinavir Approved Phase 4,Phase 3,Phase 2,Phase 1 192725-17-0 92727
3
Efavirenz Approved, Investigational Phase 4,Phase 2,Phase 3,Phase 1 154598-52-4 64139
4
Zidovudine Approved Phase 4,Phase 3,Phase 2,Phase 1 30516-87-1 35370
5
Tenofovir Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 147127-20-6 464205
6
Lamivudine Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 134678-17-4 60825
7
Maraviroc Approved, Investigational Phase 4,Phase 2 376348-65-1 3002977
8
Methadone Approved Phase 4,Phase 2,Phase 1 76-99-3 4095
9
Emtricitabine Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 143491-57-0 60877
10
Darunavir Approved Phase 4,Phase 3,Phase 2 635728-49-3, 206361-99-1 213039
11
Entecavir Approved, Investigational Phase 4 142217-69-4 153941
12
Peginterferon alfa-2a Approved, Investigational Phase 4,Phase 2,Phase 1 198153-51-4 5360545
13
Guaifenesin Approved, Vet_approved Phase 4,Phase 2,Phase 1 93-14-1 3516
14
Estradiol Approved, Investigational, Vet_approved Phase 4,Phase 3 50-28-2 5757 53477783
15
Nelfinavir Approved Phase 4,Phase 2,Phase 3 159989-64-7 64143
16
Rifampin Approved Phase 4,Phase 3,Phase 2 13292-46-1 5458213 5381226
17
Nevirapine Approved Phase 4,Phase 3,Phase 2,Phase 1 129618-40-2 4463
18
Ceftriaxone Approved Phase 4 73384-59-5 5479530 5361919
19
Didanosine Approved Phase 4,Phase 3,Phase 2,Phase 1 69655-05-6 50599
20
Stavudine Approved, Investigational Phase 4,Phase 3,Phase 2 3056-17-5 18283
21
Abacavir Approved, Investigational Phase 4,Phase 3,Phase 2 136470-78-5 65140 441300
22
Isoniazid Approved Phase 4,Phase 3,Phase 2 54-85-3 3767
23
Pyrazinamide Approved Phase 4,Phase 3,Phase 2 98-96-4 1046
24
Norgestimate Approved Phase 4,Phase 3 35189-28-7 6540478
25
Etravirine Approved Phase 4,Phase 3,Phase 1,Phase 2 269055-15-4 193962
26
Amoxicillin Approved, Vet_approved Phase 4,Phase 3 26787-78-0 33613 2171
27
Sulfamethoxazole Approved Phase 4,Phase 3,Phase 1 723-46-6 5329
28
Moxifloxacin Approved, Investigational Phase 4,Phase 3 354812-41-2, 151096-09-2 152946
29
Pyrimethamine Approved, Vet_approved Phase 4,Phase 3,Phase 2 58-14-0 4993
30
Sulfadoxine Approved Phase 4,Phase 3 2447-57-6 17134
31
Trimethoprim Approved, Vet_approved Phase 4,Phase 3,Phase 1 738-70-5 5578
32
Ethambutol Approved Phase 4,Phase 3,Phase 2 74-55-5 3279 14052
33
Oxacillin Approved Phase 4 66-79-5 6196
34
Ethinyl Estradiol Approved Phase 4,Phase 3 57-63-6 5991
35 Dolutegravir Approved Phase 4,Phase 3,Phase 2,Phase 1 1051375-16-6 54726191
36
Cobicistat Approved Phase 4,Phase 3 1004316-88-4
37
Amikacin Approved, Vet_approved Phase 4 37517-28-5 37768
38
Desogestrel Approved Phase 4 54024-22-5 40973
39
Ofloxacin Approved Phase 4 82419-36-1 4583
40
Kanamycin Approved, Vet_approved Phase 4 8063-07-8, 59-01-8 6032
41
Linezolid Approved, Investigational Phase 4 165800-03-3 441401
42
Clofazimine Approved, Investigational Phase 4 2030-63-9 2794
43
Ethionamide Approved Phase 4 536-33-4 2761171
44
Etonogestrel Approved, Investigational Phase 4 54048-10-1 40976 6917715
45
Levofloxacin Approved, Investigational Phase 4 100986-85-4 149096
46
Cycloserine Approved Phase 4 68-41-7 401 6234
47
Capreomycin Approved Phase 4 11003-38-6 3000502
48
Aminosalicylic Acid Approved Phase 4 65-49-6 4649
49
Bedaquiline Approved Phase 4,Phase 2,Phase 1 843663-66-1
50
Pyridoxine Approved, Nutraceutical, Vet_approved Phase 4,Phase 3,Phase 2 65-23-6 1054

Interventional clinical trials:

(show top 50) (show all 251)
id Name Status NCT ID Phase
1 Pegasys Plus Entecavir Versus Entecavir Alone for Hepatitis Be Antigen-Positive Chronic Hepatitis B Unknown status NCT00597259 Phase 4
2 Safety and Efficacy Study Comparing Raltegravir to a Protease Inhibitor in Treatment-naïve, HIV/Hepatitis C Drug Users Unknown status NCT01105611 Phase 4
3 Safety of Cotrimoxazole in HIV- and HAART-exposed Infants Completed NCT01086878 Phase 4
4 Comparison Between Amoxycillin/Clavulanic Acid and Oxacillin/Ceftriaxone for Community Acquired-pneumonia Completed NCT01166932 Phase 4
5 A Study Of Maraviroc In HIV Co-Infected Subjects With Hepatitis C And/Or Hepatitis B Completed NCT01327547 Phase 4
6 PRe-Exposure Prophylaxis Acceptability & Readiness Assessments for Toronto gaY, Bisexual and Other Men Who Have Sex With Men-5 Completed NCT02149888 Phase 4
7 PI or NNRTI as First-line Treatment of HIV in West Africa - the PIONA Trial Completed NCT01192035 Phase 4
8 Efficacy Study of Different Laboratory Management Strategies and Drug Regimens in HIV-infected Children in Africa Completed NCT02028676 Phase 4
9 Clinical Study of an Aluvia-based HAART Regimen for Prevention of Mother-to-child HIV Transmission in Africa Completed NCT01088516 Phase 4
10 Routine Use of Antiretroviral Therapy to Prevent Mother-to-Child HIV Transmission in the Kafue District of Zambia Completed NCT00753324 Phase 4
11 Prospective Evaluation of Anti-retroviral Combinations for Treatment Naive, HIV Infected Persons in Resource-limited Settings Completed NCT00084136 Phase 4
12 A Study to Determine How and Why HIV-Infected Subjects on Anti-viral Treatment Develop Lipodystrophy Completed NCT00006190 Phase 4
13 Maraviroc in Immunological Non-Responder (INR) HIV-1-infected Subjects Completed NCT00884858 Phase 4
14 Intermittent Preventive Treatment of Malaria in HIV-Seropositive Pregnant Women in Zambia Completed NCT00270530 Phase 4
15 Safety Of VIRACEPT® 625mg Administered To HIV-Infected Women During Pregnancy Completed NCT00246610 Phase 4
16 PREventing Progression of Adipose Tissue Redistribution Completed NCT00389194 Phase 4
17 REMEMBER: Reducing Early Mortality & Morbidity by Empiric Tuberculosis (TB) Treatment Completed NCT01380080 Phase 4
18 When to Start Anti-HIV Drugs in Patients With Opportunistic Infections Completed NCT00055120 Phase 4
19 Immune Recovery in Advanced , ARV-naïve, HIV-1-infected Individuals Taking Dolutegravir or Ritonavir-boosted Darunavir Recruiting NCT02337322 Phase 4
20 Systematic Empirical vs. Test-guided Anti-TB Treatment Impact in Severely Immunosuppressed HIV-infected Adults Initiating ART With CD4 Cell Counts <100/mm3 Recruiting NCT02057796 Phase 4
21 Pegasys Plus Entecavir Versus Entecavir Versus Pegasys for Hepatitis B e Antigen-Negative Chronic Hepatitis B Recruiting NCT01925820 Phase 4
22 Evaluating the Response to Two Antiretroviral Medication Regimens in HIV-Infected Pregnant Women, Who Begin Antiretroviral Therapy Between 28 and 36 Weeks of Pregnancy, for the Prevention of Mother-to-Child Transmission Recruiting NCT01618305 Phase 4
23 Pharmacokinetic Study of Antiretroviral Drugs and Related Drugs During and After Pregnancy Recruiting NCT00042289 Phase 4
24 Maraviroc Versus Etravirine In Combination With Antiretroviral Therapy In Drug Experienced HIV And Hepatitis Co-Infected Patients Withdrawn NCT00782301 Phase 4
25 Risk-Adapted Allogeneic Stem Cell Transplantation For Mixed Donor Chimerism In Patients With Non-Malignant Diseases Unknown status NCT01019876 Phase 2, Phase 3
26 A Comparison of DOX-SL Versus Adriamycin Plus Bleomycin Plus Vincristine in the Treatment of Severe AIDS-Related Kaposi's Sarcoma Unknown status NCT00002318 Phase 3
27 Early cART and cART in Combination With Autologous HIV-1 Specific Cytotoxic T Lymphocyte (CTL) Infusion in The Treatment of Acute HIV-1 Infected Adults Unknown status NCT02231281 Phase 3
28 BREATHER (PENTA 16) Short-Cycle Therapy (SCT) (5 Days on/2 Days Off) in Young People With Chronic HIV-infection Unknown status NCT01641016 Phase 2, Phase 3
29 Rapid Infusion of Immune Globulin Intravenous (Human) In Primary Immunodeficiency Patients Completed NCT00220766 Phase 3
30 Telaprevir Open-Label Study in Co-Infected Patients Completed NCT01500616 Phase 3
31 Study Comparing Lopinavir/Ritonavir (LPV/r) + Emtricitabine/Tenofovir Disoproxil Fumarate (FTC/TDF) With a Nucleoside Sparing Regimen Consisting of Lopinavir/Ritonavir + Raltegravir (RAL) Completed NCT00711009 Phase 3
32 Controlled Comparison of Two Moxifloxacin Containing Treatment Shortening Regimens in Pulmonary Tuberculosis Completed NCT00864383 Phase 3
33 Cotrimoxazole Prophylaxis in Severely Malnourished Children Completed NCT00934492 Phase 3
34 Polyacrylamide Hydrogel Injection in HIV-related Lipoatrophy Completed NCT01077765 Phase 3
35 Rollover Trial Safety and Tolerability of Combination Tipranavir and Ritonavir Use in HIV 1 Infected Subjects Completed NCT00146328 Phase 2, Phase 3
36 A Phase III Randomized Trial of Low-Dose Versus Standard-Dose mBACOD Chemotherapy With rGM-CSF for Treatment of AIDS-Associated Non-Hodgkin's Lymphoma Completed NCT00000658 Phase 3
37 A Phase 3 Study to Evaluate Combination Therapy With Daclatasvir and Sofosbuvir in the Treatment of HIV and Hepatitis C Virus Coinfection. Completed NCT02032888 Phase 3
38 Trimetrexate Plus Leucovorin Calcium Rescue Versus Sulfamethoxazole-Trimethoprim in the Treatment of Pneumocystis Carinii Pneumonia (PCP) in Patients With AIDS Completed NCT00001014 Phase 3
39 Prophylaxis of Visceral Leishmaniasis Relapses in HIV Co-infected Patients With Pentamidine: a Cohort Study Completed NCT01360762 Phase 3
40 Reduction of EArly mortaLITY in HIV-infected Adults and Children Starting Antiretroviral Therapy Completed NCT01825031 Phase 3
41 Atazanavir (BMS-232632) in Combination With Ritonavir or Saquinavir, and Lopinavir/Ritonavir, Each With Tenofovir and a Nucleoside in Subjects With HIV Completed NCT00035932 Phase 3
42 ICMR-Indiaclen Trial on Amoxycillin vs Cotrimoxazole for Non-Severe Pneumonia Completed NCT00396526 Phase 3
43 Monitoring Highly Active Antiretroviral Therapy in HIV-infected Parents in Thailand Completed NCT00162682 Phase 3
44 Comparison of Trimetrexate Plus Leucovorin Calcium Rescue Versus Sulfamethoxazole-Trimethoprim in the Treatment of Pneumocystis Carinii Pneumonia (PCP) in Patients With AIDS Completed NCT00001013 Phase 3
45 A Study of Trimetrexate With Leucovorin Rescue for AIDS Patients Who Are Refractory to Standard Therapies for Pneumocystis Carinii Pneumonia Completed NCT00000724 Phase 3
46 A Treatment Protocol for the Use of Trimetrexate With Leucovorin Rescue for AIDS Patients With Pneumocystis Carinii Pneumonia and Serious Intolerance to Approved Therapies Completed NCT00001016 Phase 3
47 An Open, Prospective, Multicenter Study of Trimetrexate With Leucovorin Rescue for AIDS Patients With Pneumocystis Carinii Pneumonia (PCP) and Serious Intolerance to Approved Therapies Completed NCT00000714 Phase 3
48 Efavirenz or Atazanavir/Ritonavir Given With Emtricitabine/Tenofovir Disoproxil Fumarate or Abacavir/Lamivudine in HIV Infected Treatment-Naive Adults Completed NCT00118898 Phase 3
49 Randomized, Comparative Trial of DOX-SL (Stealth Liposomal Doxorubicin Hydrochloride) Versus Bleomycin and Vincristine in the Treatment of AIDS-Related Kaposi's Sarcoma Completed NCT00002105 Phase 3
50 Establishing Effectiveness of Daily Co-trimoxazole Prophylaxis For Prevention of Malaria in Pregnancy Completed NCT01053325 Phase 3

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, Thyroid
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 831)
id Title Authors Year
1
Mutation c.256_257delAA in RAG1 Gene in Polish Children with Severe Combined Immunodeficiency: Diversity of Clinical Manifestations. ( 28083621 )
2017
2
Topical Cidofovir for Recalcitrant Verrucae in Individuals with Severe Combined Immunodeficiency After Hematopoietic Stem Cell Transplantation. ( 27699886 )
2017
3
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
4
Novel compound heterozygous mutations in ZAP70 in a Chinese patient with leaky severe combined immunodeficiency disorder. ( 28124082 )
2017
5
FOXN1 deficient nude severe combined immunodeficiency. ( 28077132 )
2017
6
Inhibition of TRPML1 by lysosomal adenosine involved in severe combined immunodeficiency diseases. ( 28087698 )
2017
7
Guidelines for Screening, Early Diagnosis and Management of Severe Combined Immunodeficiency (SCID) in India. ( 26920398 )
2016
8
A novel deletion mutation in IL2RG gene results in X-linked severe combined immunodeficiency with an atypical phenotype. ( 27566612 )
2016
9
Mutations in linker for activation of TA cells (LAT) lead to a novel form of severe combined immunodeficiency. ( 27522155 )
2016
10
Biallelic modification of IL2RG leads to severe combined immunodeficiency in pigs. ( 27809915 )
2016
11
Antitumor efficacy of lidamycin against human multiple myeloma RPMI 8226 cells and the xenograft in nonobese diabetic/severe combined immunodeficiency mice. ( 27072234 )
2016
12
Interleukin-15 deficiency promotes the development of T-cell acute lymphoblastic leukemia in non-obese diabetes mice with severe combined immunodeficiency. ( 26876593 )
2016
13
Saccharomyces kluyveri Fungemia in an Infant with Severe Combined Immunodeficiency. ( 27771657 )
2016
14
Generation and characterization of RAG2 knockout pigs as animal model for severe combined immunodeficiency. ( 27496741 )
2016
15
Different Clinical Phenotypes in 2 Siblings With X-Linked Severe Combined Immunodeficiency. ( 27012023 )
2016
16
Deep intronic mis-splicing mutation in JAK3 gene underlies T-B+NK- severe combined immunodeficiency phenotype. ( 26769277 )
2016
17
Generation of a Nonhuman Primate Model of Severe Combined Immunodeficiency Using Highly Efficient Genome Editing. ( 27374787 )
2016
18
Increased and prolonged human norovirus infection in RAG2/IL2RG deficient gnotobiotic pigs with severe combined immunodeficiency. ( 27118081 )
2016
19
Newborn screening for severe combined immunodeficiency using a novel and simplified method to measure T-cell excision circles (TREC). ( 27916705 )
2016
20
Pigs with Severe Combined Immunodeficiency Are Impaired in Controlling Influenza A Virus Infection. ( 27988511 )
2016
21
Cytomegalovirus Meningitis in an Infant with Severe Combined Immunodeficiency. ( 26996725 )
2016
22
NK cells are intrinsically functional in pigs with Severe Combined Immunodeficiency (SCID) caused by spontaneous mutations in the Artemis gene. ( 27269786 )
2016
23
Can Parents Refuse a Potentially Lifesaving Transplant for Severe Combined Immunodeficiency? ( 27307145 )
2016
24
Erratum to: Adenosine Deaminase Deficient Severe Combined Immunodeficiency Presenting as Atypical Haemolytic Uraemic Syndrome. ( 26951489 )
2016
25
Lentivirus Mediated Correction of Artemis-deficient Severe Combined Immunodeficiency. ( 27611239 )
2016
26
Medallion-Like Dermal Dendrocytic Hamartoma, Dermatofibrosarcoma Protuberans, and Adenosine Deaminase-Deficient Severe Combined Immunodeficiency. ( 27176810 )
2016
27
Necrotizing Retinitis Secondary to Congenital Cytomegalovirus Infection Associated with Severe Combined Immunodeficiency. ( 27999698 )
2016
28
Gene Therapy for X-Linked Severe Combined Immunodeficiency: Where Do We Stand? ( 26790362 )
2016
29
Novel treatment of severe combined immunodeficiency utilizing ex-vivo T-cell depleted haploidentical hematopoietic stem cell transplantation and CD45RA+ depleted donor lymphocyte infusions. ( 26768987 )
2016
30
Low T cell receptor excision circles (TRECs) in a case of ZAP 70 deficient severe combined immunodeficiency (SCID) with a novel mutation from India. ( 27839984 )
2016
31
Transplacental maternal engraftment and posttransplantation graft-versus-host disease in children with severe combined immunodeficiency. ( 27444177 )
2016
32
Functional changes in gut microbiota during hematopoietic stem cell transplantation for severe combined immunodeficiency. ( 27118218 )
2016
33
Neonatal screening for severe combined immunodeficiency in Brazil. ( 27207231 )
2016
34
Multisystem Anomalies in Severe Combined Immunodeficiency with Mutant BCL11B. ( 27959755 )
2016
35
Maternal T-Cell Engraftment Interferes With Human Leukocyte Antigen Typing in Severe Combined Immunodeficiency. ( 26834123 )
2016
36
Lentiviral hematopoietic stem cell gene therapy for X-linked severe combined immunodeficiency. ( 27099176 )
2016
37
Costs associated with treatment of severe combined immunodeficiency (SCID) - rationale for newborn screening in Sweden. ( 28012934 )
2016
38
Evaluation of Severe Combined Immunodeficiency and Combined Immunodeficiency Pediatric Patients on the Basis of Cellular Radiosensitivity. ( 26151233 )
2015
39
A novel common gamma chain mutation in a Chinese family with X-linked severe combined immunodeficiency (X-SCID; T(-)NK(-)B(+)). ( 26409833 )
2015
40
Neonatal-onset T(-)B(-)NK(+) severe combined immunodeficiency and neutropenia caused by mutated phosphoglucomutase 3. ( 26409661 )
2015
41
Adenosine Deaminase Deficient Severe Combined Immunodeficiency Presenting as Atypical Haemolytic Uraemic Syndrome. ( 25875700 )
2015
42
Recommendations for the use of the non-obese diabetic/severe combined immunodeficiency mouse model in autoimmune and drug-induced thrombocytopenia: communication from the SSC of the ISTH. ( 25714467 )
2015
43
Novel compound heterozygous DNA ligase IV mutations in an adolescent with a slowly-progressing radiosensitive-severe combined immunodeficiency. ( 26172957 )
2015
44
Newborn Screening for Severe Combined Immunodeficiency: Changing the Landscape of Pediatric Primary Immunodeficiencies. ( 26866138 )
2015
45
Newborn Screening for Severe Combined Immunodeficiency: Changing the Landscape of Pediatric Primary Immunodeficiencies. ( 26866067 )
2015
46
Positive Family History, Infection, Low Absolute Lymphocyte Count (ALC), and Absent Thymic Shadow: Diagnostic Clues for All Molecular Forms of Severe Combined Immunodeficiency (SCID). ( 25824440 )
2015
47
While on the Way to Universal Newborn Screening for Severe Combined Immunodeficiency Disease. ( 26164577 )
2015
48
Strategies for B-cell receptor repertoire analysis in primary immunodeficiencies: from severe combined immunodeficiency to common variable immunodeficiency. ( 25904919 )
2015
49
Cytoreductive conditioning for severe combined immunodeficiency--help or hindrance? ( 26099343 )
2015
50
Chitosan oligosaccharides in combination withA AgaricusA blazei Murill extract reduces hepatoma formation in mice with severe combined immunodeficiency. ( 25760985 )
2015

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_002185.3(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 50)
id Super pathways Score Top Affiliating Genes
1
Show member pathways
14.04 CD3D IL15 IL2 IL2RG IL4 IL7
2
Show member pathways
13.87 CD3D IL15 IL2 IL21 IL2RG IL4
3
Show member pathways
13.69 CD3D IL15 IL2 IL21 IL2RG IL4
4
Show member pathways
13.54 IL15 IL2 IL2RG IL4 IL7 IL7R
5
Show member pathways
13.38 IL15 IL2 IL2RG IL4 IL7 IL7R
6
Show member pathways
13.31 IL15 IL2 IL21 IL2RG IL4 IL7
7
Show member pathways
13.29 CD3D IL15 IL2 IL21 IL2RG IL4
8
Show member pathways
12.89 CD3D IL15 IL2 IL21 IL4 IL9
9
Show member pathways
12.83 CD3D IL15 IL2 IL2RG IL4 JAK3
10
Show member pathways
12.66 IL15 IL2 IL21 IL2RG IL4 IL7
11
Show member pathways
12.64 CD3D IL2 IL4 PTPRC ZAP70
12 12.63 IL2 IL2RG IL4 IL7 IL7R JAK3
13
Show member pathways
12.59 CD3D IL2 IL21 IL2RG IL4 JAK3
14 12.52 DCLRE1C IL2 IL4 JAK3 PTPRC RAG1
15 12.47 DCLRE1C LIG4 NHEJ1 PRKDC
16
Show member pathways
12.47 CD3D IL2 IL4 IL9 PTPRC ZAP70
17 12.46 CD3D IL15 IL2 IL2RG JAK3
18
Show member pathways
12.42 CD3D IL2 IL2RG PTPRC ZAP70
19
Show member pathways
12.35 DCLRE1C LIG4 NHEJ1 PRKDC
20
Show member pathways
12.18 IL15 IL2 IL4 IL9
21 12.13 IL15 IL21 IL7R PRKDC
22
Show member pathways
12.02 CD3D IL2 IL2RG IL4
23 12 IL15 IL2 IL4 IL7 IL7R PTPRC
24
Show member pathways
11.96 IL21 IL2RG IL4 JAK3
25 11.93 CD3D IL4 IL7 IL7R
26
Show member pathways
11.92 CD3D PTPRC ZAP70
27
Show member pathways
11.91 CD3D PTPRC ZAP70
28 11.87 IL15 IL21 IL7R JAK3 PTPRC
29
Show member pathways
11.85 IL15 IL2 IL21 IL2RG IL4 IL7
30
Show member pathways
11.84 IL21 IL2RG JAK3
31 11.75 IL2 IL7R PTPRC
32
Show member pathways
11.74 IL2 IL2RG IL4 JAK3
33 11.7 IL15 IL2 IL4 IL7 IL7R IL9
34 11.66 IL2RG IL4 JAK3
35
Show member pathways
11.65 CD3D IL2 IL2RG
36 11.58 IL21 IL7R PTPRC
37 11.5 IL2 IL2RG IL4 IL9 JAK3
38
Show member pathways
11.48 CD3D IL15 IL2 IL2RG
39
Show member pathways
11.45 IL2RG IL7 IL7R IL9 JAK3
40 11.38 IL2 IL2RG IL4 ZAP70
41 11.35 IL15 IL4 IL7 IL9
42 11.31 IL15 IL2 IL4 IL7
43 11.23 IL2 IL4 IL9
44 11.2 IL15 IL2 IL21 IL4 IL7 IL9
45
Show member pathways
11.19 IL2 IL2RG JAK3
46 11.19 DCLRE1C LIG4 PRKDC
47 11.13 IL21 IL2RG IL4
48 11.08 IL2RG IL7 IL7R JAK3 RAG1 RAG2
49 10.96 IL2RG IL4 IL9
50 10.89 ADA CD3D DCLRE1C IL2RG IL7R JAK3

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 9.35 ADA IL2RG IL4 IL7R PTPRC
2 T cell receptor complex GO:0042101 9.32 CD3D ZAP70
3 DNA-dependent protein kinase-DNA ligase 4 complex GO:0005958 9.26 LIG4 PRKDC
4 DNA ligase IV complex GO:0032807 9.16 LIG4 NHEJ1
5 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)
id Name GO ID Score Top Affiliating Genes
1 adaptive immune response GO:0002250 9.98 DCLRE1C IL2 JAK3 RAG1 ZAP70
2 DNA recombination GO:0006310 9.91 DCLRE1C LIG4 NHEJ1 PRKDC RAG1 RAG2
3 double-strand break repair GO:0006302 9.88 DCLRE1C LIG4 NHEJ1 PRKDC
4 B cell differentiation GO:0030183 9.88 DCLRE1C IL4 JAK3 NHEJ1 RAG1 RAG2
5 double-strand break repair via nonhomologous end joining GO:0006303 9.87 DCLRE1C LIG4 NHEJ1 PRKDC
6 response to ionizing radiation GO:0010212 9.85 DCLRE1C LIG4 NHEJ1 PRKDC
7 positive regulation of T cell proliferation GO:0042102 9.85 IL15 IL2 IL21 IL4 JAK3 PTPRC
8 positive regulation of inflammatory response GO:0050729 9.83 IL15 IL2 IL21
9 positive regulation of tyrosine phosphorylation of STAT protein GO:0042531 9.83 IL2 IL21 IL4
10 response to gamma radiation GO:0010332 9.79 LIG4 PRKDC PTPRC
11 T cell differentiation in thymus GO:0033077 9.78 LIG4 PRKDC RAG1 RAG2
12 positive regulation of interleukin-17 production GO:0032740 9.73 IL15 IL2 IL21
13 positive regulation of B cell proliferation GO:0030890 9.73 ADA IL2 IL21 IL4 IL7 PTPRC
14 regulation of T cell differentiation GO:0045580 9.71 ADA IL15 RAG1
15 tyrosine phosphorylation of STAT protein GO:0007260 9.7 IL15 IL21 JAK3
16 negative regulation of thymocyte apoptotic process GO:0070244 9.69 ADA JAK3 RAG1
17 negative regulation of T cell activation GO:0050868 9.68 IL4 JAK3
18 positive regulation of tyrosine phosphorylation of Stat5 protein GO:0042523 9.68 IL2 IL4
19 lymph node development GO:0048535 9.68 IL15 IL7R
20 positive regulation of organ growth GO:0046622 9.67 IL7 RAG2
21 positive regulation of T cell differentiation in thymus GO:0033089 9.67 ADA IL7R
22 positive regulation of alpha-beta T cell differentiation GO:0046638 9.67 ADA ZAP70
23 positive regulation of tissue remodeling GO:0034105 9.67 IL15 IL2 IL21
24 positive regulation of isotype switching to IgG isotypes GO:0048304 9.66 IL2 IL4
25 positive thymic T cell selection GO:0045059 9.66 CD3D ZAP70
26 negative regulation of T cell mediated cytotoxicity GO:0001915 9.65 IL7R PTPRC
27 T cell receptor V(D)J recombination GO:0033153 9.64 LIG4 PRKDC
28 pro-B cell differentiation GO:0002328 9.64 LIG4 PRKDC
29 negative regulation of T-helper 17 cell differentiation GO:2000320 9.63 IL2 IL4
30 interleukin-4-mediated signaling pathway GO:0035771 9.63 IL2RG JAK3
31 T cell lineage commitment GO:0002360 9.63 IL7 PRKDC RAG2
32 B cell lineage commitment GO:0002326 9.62 PRKDC RAG2
33 immunoglobulin V(D)J recombination GO:0033152 9.61 LIG4 PRKDC
34 pre-B cell allelic exclusion GO:0002331 9.61 RAG1 RAG2
35 interleukin-7-mediated signaling pathway GO:0038111 9.59 IL2RG IL7R
36 V(D)J recombination GO:0033151 9.55 DCLRE1C LIG4 PRKDC RAG1 RAG2
37 positive regulation of T cell differentiation GO:0045582 9.43 ADA IL2 IL4 IL7 RAG1 ZAP70
38 T cell differentiation GO:0030217 9.17 CD3D IL2 IL7R NHEJ1 PTPRC RAG2
39 positive regulation of cell proliferation GO:0008284 10.08 IL15 IL2 IL21 IL4 IL7 IL9
40 negative regulation of apoptotic process GO:0043066 10.07 ADA IL2 IL4 IL7 PRKDC
41 immune response GO:0006955 10.02 IL15 IL2 IL21 IL2RG IL4 IL7

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

id Name GO ID Score Top Affiliating Genes
1 growth factor activity GO:0008083 9.62 IL2 IL4 IL7 IL9
2 cytokine activity GO:0005125 9.43 IL15 IL2 IL21 IL4 IL7 IL9
3 interleukin-2 receptor binding GO:0005134 9.26 IL2 IL21
4 interleukin-7 receptor activity GO:0004917 9.16 IL2RG IL7R
5 cytokine receptor binding GO:0005126 9.02 IL15 IL21 IL4 IL7 IL9

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
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN