SCID
MCID: SVR004
MIFTS: 73

Severe Combined Immunodeficiency (SCID)

Categories: Blood diseases, Immune diseases, Rare diseases

Aliases & Classifications for Severe Combined Immunodeficiency

MalaCards integrated aliases for Severe Combined Immunodeficiency:

Name: Severe Combined Immunodeficiency 12 74 52 58 54 15 37 71
Scid 12 52 58
Severe Combined Immunodeficiency Disease 29 6
Combined T and B Cell Inborn Immunodeficiency 12
Immunodeficiency, Severe Combined 39

Characteristics:

Orphanet epidemiological data:

58
severe combined immunodeficiency
Inheritance: Autosomal recessive,X-linked recessive; Prevalence: 1-9/100000 (Europe),1-9/100000 (United States); Age of onset: Infancy,Neonatal; Age of death: early childhood;

Classifications:

Orphanet: 58  
Rare immunological diseases


External Ids:

Disease Ontology 12 DOID:627
MeSH 43 D016511
NCIt 49 C3472
SNOMED-CT 67 31323000
MESH via Orphanet 44 D016511
ICD10 via Orphanet 33 D81.0 D81.1 D81.2 more
UMLS via Orphanet 72 C0085110
Orphanet 58 ORPHA183660
UMLS 71 C0085110

Summaries for Severe Combined Immunodeficiency

NIH Rare Diseases : 52 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, 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 scid, is related to severe combined immunodeficiency, x-linked and severe combined immunodeficiency with sensitivity to ionizing radiation. An important gene associated with Severe Combined Immunodeficiency is ADA (Adenosine Deaminase), and among its related pathways/superpathways are Innate Immune System and ERK Signaling. The drugs Amisulpride and Carbamazepine have been mentioned in the context of this disorder. Affiliated tissues include Blood, and related phenotypes are failure to thrive and recurrent respiratory infections

Disease Ontology : 12 A combined T cell and B cell immunodeficiency that is caused by a defect in infection-fighting immune cells resulting in individuals with non-functional immune systems.

Wikipedia : 74 Severe combined immunodeficiency, SCID, is a rare genetic disorder characterized by the disturbed... 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 837)
# Related Disease Score Top Affiliating Genes
1 severe combined immunodeficiency, x-linked 35.9 JAK3 IL9 IL7R IL7 IL2RG IL2
2 severe combined immunodeficiency with sensitivity to ionizing radiation 35.9 RAG2 RAG1 PRKDC NHEJ1 LIG4 DCLRE1C
3 severe combined immunodeficiency, autosomal recessive, t cell-negative, b cell-positive, nk cell-negative 35.7 RAG2 RAG1 JAK3
4 severe combined immunodeficiency, autosomal recessive, t cell-negative, b cell-positive, nk cell-positive 35.7 PTPRC IL7R CD3D
5 t-b- severe combined immunodeficiency 35.6 RAG2 JAK3 DCLRE1C
6 jak3-deficient severe combined immunodeficiency 35.3 JAK3 IL9 IL2
7 reticular dysgenesis 35.0 RAG1 NHEJ1 JAK3 IL2RG DCLRE1C AK2
8 adenosine deaminase deficiency 35.0 RAG2 RAG1 JAK3 IL2RG ADA
9 t-b+ severe combined immunodeficiency due to cd3delta/cd3epsilon/cd3zeta 34.9 CD3E CD3D
10 bare lymphocyte syndrome, type ii 34.9 ZAP70 RAG2 RAG1 NHEJ1 JAK3 IL2RG
11 omenn syndrome 34.7 ZAP70 RAG2 RAG1 PRKDC NHEJ1 LIG4
12 immunodeficiency 18 34.6 PTPRC CD3E CD3D
13 immunodeficiency 19 34.6 ZAP70 JAK3 CD3D ADA
14 lig4 syndrome 33.8 RAG2 RAG1 PRKDC NHEJ1 LIG4 DCLRE1C
15 purine nucleoside phosphorylase deficiency 33.4 RAG1 NHEJ1 AK2 ADA
16 combined t cell and b cell immunodeficiency 33.3 ZAP70 RAG2 RAG1 PTPRC PRKDC NHEJ1
17 cd45 deficiency 33.1 ZAP70 PTPRC
18 immune deficiency disease 33.1 ZAP70 RAG2 RAG1 RAC2 PTPRC MYH7
19 recombinase activating gene 1 deficiency 32.9 RAG2 RAG1 PRKDC NHEJ1 AK2
20 janus kinase-3 deficiency 32.7 LIG4 JAK3
21 lymphopenia 32.2 ZAP70 RAG1 RAC2 MYH7 JAK3 IL7R
22 leukemia, acute lymphoblastic 31.7 ZAP70 RAG1 PTPRC JAK3 IL7R IL7
23 combined cellular and humoral immune defects with granulomas 31.7 RAG2 RAG1
24 combined immunodeficiency, x-linked 31.6 ZAP70 RAC2 MYH7 IL7 IL2RG
25 digeorge syndrome 31.5 RAG2 RAG1 IL7 IL2RG DCLRE1C
26 t cell deficiency 31.4 RAG1 PTPRC IL7R IL7 IL2RG IL2
27 autoimmune disease 31.4 ZAP70 JAK3 IL9 IL7R IL2
28 human immunodeficiency virus infectious disease 31.3 PTPRC IL7R IL7 IL2 ADA
29 acute t cell leukemia 31.2 RAG2 PTPRC JAK3 IL7R IL7
30 common variable immunodeficiency 31.1 ZAP70 RAG1 RAC2 JAK3 IL7 IL2
31 listeriosis 31.0 PTPRC IL7R IL2
32 lymphoma, non-hodgkin, familial 30.9 RAG1 PTPRC IL9 IL7 IL2 ADA
33 cd40 ligand deficiency 30.9 ZAP70 JAK3 IL2RG
34 sarcoidosis 1 30.9 PTPRC IL9 IL2 ADA
35 anaplastic large cell lymphoma 30.4 PTPRC JAK3 IL9
36 leukemia, chronic lymphocytic 30.3 ZAP70 PTPRC IL7 IL2 ADA
37 severe combined immunodeficiency, autosomal recessive, t cell-negative, b cell-negative, nk cell-negative, due to adenosine deaminase deficiency 12.9
38 severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation 12.9
39 short-limb skeletal dysplasia with severe combined immunodeficiency 12.8
40 zap70-related severe combined immunodeficiency 12.8
41 severe combined immunodeficiency due to ikk2 deficiency 12.5
42 non-severe combined immunodeficiency 12.5
43 severe combined immunodeficiency, atypical 12.5
44 t-cell immunodeficiency, congenital alopecia, and nail dystrophy 12.2
45 immunodeficiency 26 with or without neurologic abnormalities 12.2
46 immunodeficiency 49 12.1
47 immunodeficiency 52 12.1
48 immunodeficiency 8 12.1
49 immunodeficiency 22 12.1
50 immunodeficiency 11 11.9

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:

58 31 (show all 18)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 failure to thrive 58 31 hallmark (90%) Very frequent (99-80%) HP:0001508
2 recurrent respiratory infections 58 31 hallmark (90%) Very frequent (99-80%) HP:0002205
3 fever 58 31 hallmark (90%) Very frequent (99-80%) HP:0001945
4 chronic diarrhea 58 31 hallmark (90%) Very frequent (99-80%) HP:0002028
5 sepsis 58 31 hallmark (90%) Very frequent (99-80%) HP:0100806
6 severe combined immunodeficiency 58 31 hallmark (90%) Very frequent (99-80%) HP:0004430
7 alopecia 58 31 frequent (33%) Frequent (79-30%) HP:0001596
8 skin rash 58 31 frequent (33%) Frequent (79-30%) HP:0000988
9 lymphopenia 58 31 frequent (33%) Frequent (79-30%) HP:0001888
10 splenomegaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0001744
11 hepatomegaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0002240
12 chronic otitis media 58 31 occasional (7.5%) Occasional (29-5%) HP:0000389
13 abnormality of the dentition 58 31 occasional (7.5%) Occasional (29-5%) HP:0000164
14 microcephaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0000252
15 sensorineural hearing impairment 58 31 occasional (7.5%) Occasional (29-5%) HP:0000407
16 recurrent urinary tract infections 58 31 occasional (7.5%) Occasional (29-5%) HP:0000010
17 immunodeficiency 58 Very frequent (99-80%)
18 abnormality of the lymphatic system 58 Very frequent (99-80%)

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 9.17 CD3D DCLRE1C IL9 JAK3 PRKDC PTPRC

MGI Mouse Phenotypes related to Severe Combined Immunodeficiency:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 10.36 ADA CD3D CD3E DCLRE1C IL2 IL2RG
2 cellular MP:0005384 10.35 ADA CD3E DCLRE1C IL2 IL2RG IL7R
3 immune system MP:0005387 10.32 ADA CD3D CD3E DCLRE1C IL2 IL2RG
4 endocrine/exocrine gland MP:0005379 10.31 ADA CD3E DCLRE1C IL2 IL2RG IL7
5 digestive/alimentary MP:0005381 10.16 ADA IL2 IL2RG IL9 JAK3 LIG4
6 mortality/aging MP:0010768 10.07 ADA CD3E IL2 IL2RG JAK3 LIG4
7 liver/biliary system MP:0005370 9.87 ADA IL2 LIG4 PRKDC PTPRC RAG1
8 neoplasm MP:0002006 9.85 CD3E IL2 IL2RG IL7R LIG4 NHEJ1
9 normal MP:0002873 9.61 ADA IL2RG IL7R IL9 MYH7 PTPRC
10 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 361)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Amisulpride Approved, Investigational Phase 4 71675-85-9, 53583-79-2 2159
2
Carbamazepine Approved, Investigational Phase 4 298-46-4 2554
3
Modafinil Approved, Investigational Phase 4 68693-11-8 4236
4
Prednisone Approved, Vet_approved Phase 4 53-03-2 5865
5
Fluoxetine Approved, Vet_approved Phase 4 54910-89-3 3386
6
Methylphenidate Approved, Investigational Phase 4 113-45-1 4158
7
Amphetamine Approved, Illicit, Investigational Phase 4 300-62-9 5826 3007
8
Cocaine Approved, Illicit Phase 4 50-36-2 5760 446220
9
Naltrexone Approved, Investigational, Vet_approved Phase 4 16590-41-3 5360515
10
Valproic acid Approved, Investigational Phase 4 99-66-1 3121
11
Risperidone Approved, Investigational Phase 4 106266-06-2 5073
12
Oxytocin Approved, Vet_approved Phase 4 50-56-6 439302 53477758
13
Allopurinol Approved Phase 4 315-30-0 2094
14
Dipyridamole Approved Phase 4 58-32-2 3108
15
Metformin Approved Phase 4 657-24-9 14219 4091
16
Paroxetine Approved, Investigational Phase 4 61869-08-7 43815
17
Nicotine Approved Phase 4 54-11-5 942 89594
18
Methadone Approved Phase 4 76-99-3 4095
19
Ribavirin Approved Phase 4 36791-04-5 37542
20
Memantine Approved, Investigational Phase 4 19982-08-2 4054
21
Olanzapine Approved, Investigational Phase 4 132539-06-1 4585
22
Alendronate Approved Phase 4 121268-17-5, 66376-36-1 2088
23
Mifepristone Approved, Investigational Phase 4 84371-65-3 55245
24
Rosiglitazone Approved, Investigational Phase 4 122320-73-4 77999
25
Clozapine Approved Phase 4 5786-21-0 2818
26
Megestrol acetate Approved, Investigational, Vet_approved Phase 4 595-33-5 11683
27
Phenytoin Approved, Vet_approved Phase 4 57-41-0 1775
28
Propranolol Approved, Investigational Phase 4 525-66-6 4946
29
Brexpiprazole Approved, Investigational Phase 4 913611-97-9 11978813
30
Chlorpromazine Approved, Investigational, Vet_approved Phase 4 50-53-3 2726
31
Vortioxetine Approved, Investigational Phase 4 508233-74-7 9966051
32
Epinephrine Approved, Vet_approved Phase 4 51-43-4 5816
33
Racepinephrine Approved Phase 4 329-65-7 838
34
Ethanol Approved Phase 4 64-17-5 702
35
Lithium carbonate Approved Phase 4 554-13-2
36
Sertraline Approved Phase 4 79617-96-2 68617
37
Bupropion Approved Phase 4 34911-55-2, 34841-39-9 444
38
Mirtazapine Approved Phase 4 85650-52-8, 61337-67-5 4205
39
Histamine Approved, Investigational Phase 4 51-45-6 774
40
Buspirone Approved, Investigational Phase 4 36505-84-7 2477
41
Cycloserine Approved Phase 4 68-41-7 401 6234
42
Adenosine Approved, Investigational Phase 4 58-61-7 60961
43
Dopamine Approved Phase 4 51-61-6, 62-31-7 681
44
Citalopram Approved Phase 4 59729-33-8 2771
45
Pramipexole Approved, Investigational Phase 4 104632-26-0 59868 119570
46
Creatine Approved, Investigational, Nutraceutical Phase 4 57-00-1 586
47
Choline Approved, Nutraceutical Phase 4 62-49-7 305
48 Cytochrome P-450 CYP3A Inducers Phase 4
49 Anti-Arrhythmia Agents Phase 4
50 Vasodilator Agents Phase 4

Interventional clinical trials:

(show top 50) (show all 365)
# Name Status NCT ID Phase Drugs
1 Open Label Prophylaxis Study of Lithium Plus Extended- Release Carbamazepine (Equetro®) Combination for Rapid Cycling Bipolar Disorder Unknown status NCT00325286 Phase 4 Lithium Plus Extended- Release Carbamazepine
2 Locus Coeruleus Neuroimaging of Antipsychotic/Modafinil Interactions on Cognition in Schizophrenia Unknown status NCT01913327 Phase 4 Aripiprazole;Risperidone;Modafinil
3 Association of the Amisulpride Treatment Response in Patients With Schizophrenia With the Findings of Brain Structural Magnetic Resonance Imaging Unknown status NCT02095938 Phase 4 amisulpride
4 An Open Treatment Trial of Duloxetine in Elderly Patients With Dysthymic Disorder Completed NCT01852383 Phase 4 Duloxetine
5 Randomized, Controlled, Double Blind Trial to Evaluate Sedation and Quality of Life in High-risk, Critically Ill Patients Treated With Oral Melatonin Completed NCT00470821 Phase 4 Oral melatonin 3mg BID;Placebo
6 Evaluation of Pharmacokinetics and Profile of Clinical Response of Subacute Lisdexamfetamine Dimesylate (Vyvanse) Treatment vs. Clinical Response to Subacute Immediate Release Mixed Amphetamine Salt Therapy in Adult ADHD Completed NCT01070394 Phase 4 LDX Treatment
7 Topiramate in the Treatment of Post Traumatic Stress Disorder (PTSD) Completed NCT00203463 Phase 4 topiramate
8 Naltrexone for Bipolar Disorder and Alcohol Dependence Completed NCT00223275 Phase 4 Naltrexone
9 Randomized Clinical Trial to Study the Topiramate Efficacy for Posttraumatic Disorder Treatment Completed NCT00725920 Phase 4 Topiramate;placebo control group
10 Divalproex ER vs. Risperidone for Bipolar Disorder With Comorbid Substance Use Disorder Completed NCT00203528 Phase 4 divalproex sodium ER;risperidone
11 A Double-blind, Randomized, Placebo-controlled 4-week Study on the Efficacy and Safety of the Purinergic Agents Allopurinol and Dipyridamole in Acute Bipolar Mania. Completed NCT00560079 Phase 4 Allopurinol;Dipyridamole;Placebo
12 A Randomized, Double-Blind, Placebo-Controlled Add-On Trial of Quetiapine in Patients With Bipolar Disorder and Alcohol Abuse/ Dependence. Completed NCT00223249 Phase 4 Quetiapine
13 A Double-blind Placebo Controlled Trial of Pregnenolone for Depression in Patients With Bipolar Disorders or Recurrent Major Depressive Disorder and a History of Substance Abuse Completed NCT00223197 Phase 4 Pregnenolone
14 Metformin for Treatment Antipsychotic-induced Metabolic Syndrome in Bipolar Disorder Patients Completed NCT02644577 Phase 4 Metformin
15 Improving Hepatitis C Treatment in Injection Drug Users Completed NCT00148031 Phase 4 Pegylated Interferon and Ribavirin
16 Group Cognitive Behavioral Therapy Versus Fluoxetine for Obsessive-Compulsive Disorder: a Randomized Open Trial for Any Patient. Completed NCT00680602 Phase 4 SSRI (fluoxetine, sertraline, paroxetine, citalopram)
17 Attenuation of Corticosteroid Induced Hippocampal Changes Completed NCT01656187 Phase 4 Memantine 10 mg capsule;Memantine-matched Placebo capsule
18 Cognitive Treatments in Schizophrenia Completed NCT00628394 Phase 4 Atomoxetine;Placebo
19 Duloxetine for Perimenopausal Depression Completed NCT00517985 Phase 4 Duloxetine
20 The P.O.W.E.R. STUDY (Premenopause, Osteopenia/Osteoporosis, Women, Alendronate, Depression) Completed NCT00006180 Phase 4 Alendronate
21 D-Cycloserine Augmentation of Cognitive Behavioral Therapy for Delusions Completed NCT01981759 Phase 4 D-Cycloserine
22 A Double-Blind, Placebo-Controlled Trial of Rosiglitazone for Clozapine Induced Glucose Metabolism Impairment: Bergman's Minimal Model Analysis Completed NCT00337350 Phase 4 rosiglitazone;placebo
23 Phenytoin for Memory Impairment Secondary to Megestrol Completed NCT02595723 Phase 4 Phenytoin 200 mg capsule;Megestrol 800 mg liquid;Phenytoin-matched Placebo capsule;Megestrol-matched liquid Placebo
24 Psychophysiology of Delayed Extinction and Reconsolidation in Humans Completed NCT01631682 Phase 4 Propranolol;Mifepristone;Intranasal oxytocin
25 Antidepressant Treatment at an Inner City Asthma Clinic Completed NCT01324700 Phase 4 High severity group: Escitalopram;High severity group: Placebo;Low severity group: Escitalopram;Low severity group: Placebo
26 The Efficacy of Cranial-electrotherapy Stimulation (CES) Using Alpha-Stim Technology in The Treatment of Anxiety Disorders Completed NCT01533415 Phase 4
27 Citalopram in First Episode Schizophrenia Completed NCT01041274 Phase 4 Citalopram;Placebo
28 Brexpiprazole for Bipolar Depression Completed NCT03427892 Phase 4 Brexpiprazole
29 A Comparison of Bupropion SR and Placebo for Smoking Cessation Completed NCT00176449 Phase 4 Bupropion SR;Placebo Oral Tablet
30 A Biological Basis of Therapy for Negative Symptom Spectrum Disorders: Risperdal Effect on Frontal Metabolism in Asperger's Disorder Completed NCT00352196 Phase 4 Risperidone
31 A 12-week, Randomized, Double-blind, Parallel-group, Placebo-controlled Trial of Citicoline as an add-on Therapy Will be Conducted in 200 Outpatients With Bipolar I Disorder and Cocaine Dependence. Completed NCT00619723 Phase 4 Citicoline;Placebo
32 Microtuning a Bonafide Treatment for GAD Patients - A Randomized Controlled Trial. Completed NCT02039193 Phase 4
33 Comparison of Combination Olanzapine and Lithium and Combination Chlorpromazine and Lithium in the Treatment of a First Manic Episode With Psychotic Features. Completed NCT00202293 Phase 4 Olanzapine;Lithium;Chlorpromazine
34 Adjunctive Vortioxetine in Schizophrenia Recruiting NCT02357797 Phase 4 Vortioxetine
35 Clinical Medication Development for Bipolar Disorder and Alcohol Use Disorders Recruiting NCT02582905 Phase 4 Placebo;Citicoline;Pregnenolone
36 Treating Caregiver Depression to Improve Childhood Asthma: Impact and Mediators Recruiting NCT02809677 Phase 4 Escitalopram;Venlafaxine XR;Bupropion XR;Sertraline;Mirtazapine;Buspirone;Quetiapine;Aripiprazole;Lithium
37 Translational Approach to the Understanding and Treatment of Obsessive-Compulsive Disorder (OCD). Can D-Cycloserine Enhance and Stabilize the Treatment-response in Relapsed and Non-responding OCD-patients? A Randomized, Double-blind, Placebo-controlled National Study Active, not recruiting NCT02656342 Phase 4 D-Cycloserine;Placebo
38 Methodology Study to Investigate the Utility of Retroviral Insertion Site Analysis in Samples From Subjects Treated With Strimvelis™ Gene Therapy Not yet recruiting NCT03311074 Phase 4
39 Imaging the Nucleus Accumbens in Major Depressed Patients 'Treated With Pramipexole Terminated NCT01066897 Phase 4 Pramipexole
40 Lexapro for Major Depression in Patients With Epilepsy Terminated NCT01244724 Phase 4 Lexapro
41 Results From a 24 Week, Double-blind, Placebo-controlled Trial of EMDR Combined With Venlafaxine XR in the Treatment of Posttraumatic Stress Disorder Withdrawn NCT02433353 Phase 4 Venlafaxine XR;Placebo
42 Risk-Adapted Allogeneic Stem Cell Transplantation For Mixed Donor Chimerism In Patients With Selected Non-Malignant Diseases Unknown status NCT01019876 Phase 2, Phase 3 Fludarabine;Cyclophosphamide;Cyclophosphamide 40;Cyclophosphamide 30
43 The Efficacy of Eye Movement Desensitization and Reprocessing (EMDR) in Patients With Post Traumatic Stress Disorder in Multiple Sclerosis. A Randomized Controlled Trial. Unknown status NCT01743664 Phase 3
44 A Study of EZN-2279 (Polyethylene Glycol Recombinant Adenosine Deaminase [PEG-rADA]) Administered as a Weekly Intramuscular Injection in Patients With Adenosine Deaminase (ADA)-Deficient Combined Immunodeficiency Completed NCT01420627 Phase 3
45 IGIV-C 10% Rapid Infusion Trial in Primary Immune Deficient Patients Completed NCT00220766 Phase 3 Immune Globulin Intravenous [Human], 10% Caprylate/Chromatography Purified;Dextrose, 5% in Water
46 BOSCOT: A Randomised Control Trial of Cognitive Behavioural Therapy Plus Treatment as Usual Versus Treatment as Usual in the Treatment of Borderline Personality Disorder Completed NCT00538135 Phase 3
47 Efficacy of Light Therapy for Bipolar Depression: A Randomized Controlled Trial Completed NCT00852592 Phase 3
48 Pulsed Electro Magnetic Fields (PEMF) Treatment in Patients With Treatment-Resistant Major Depression in Ongoing Pharmacological Treatment of Depression Completed NCT00287703 Phase 3
49 Evaluation of Consultation Including Genetic Aspects of Obesity Completed NCT00389246 Phase 3
50 A Proof of Concept Study of Icariin for Bipolar Disorder and Co-Occurring Substance Use Disorders Completed NCT01979133 Phase 3 Icariin

Search NIH Clinical Center for Severe Combined Immunodeficiency

Inferred drug relations via UMLS 71 / NDF-RT 50 :


pegademase bovine

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:

40
T Cells, Bone, B Cells, Bone Marrow, Breast, Prostate, Lung
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 20206)
# Title Authors PMID Year
1
Interleukin-7 receptor alpha (IL-7Ralpha) deficiency: cellular and molecular bases. Analysis of clinical, immunological, and molecular features in 16 novel patients. 54 61 6
15661025 2005
2
Molecular and biochemical characterization of JAK3 deficiency in a patient with severe combined immunodeficiency over 20 years after bone marrow transplantation: implications for treatment. 54 61 6
9753072 1998
3
Molecular diagnosis of severe combined immunodeficiency--identification of IL2RG, JAK3, IL7R, DCLRE1C, RAG1, and RAG2 mutations in a cohort of Chinese and Southeast Asian children. 61 6
21184155 2011
4
Why newborn screening for severe combined immunodeficiency is essential: a case report. 61 6
20603253 2010
5
Mutations causing severe combined immunodeficiency: detection with a custom resequencing microarray. 61 6
18641513 2008
6
IL-7 receptor deficient SCID with a unique intronic mutation and post-transplant autoimmunity due to chronic GVHD. 61 6
17827065 2007
7
Structural and functional basis for JAK3-deficient severe combined immunodeficiency. 61 6
9354668 1997
8
Omenn syndrome in an infant with IL7RA gene mutation. 6
16492442 2006
9
Analysis of mutations from SCID and Omenn syndrome patients reveals the central role of the Rag2 PHD domain in regulating V(D)J recombination. 54 61
20234091 2010
10
Human bone marrow mesenchymal stem cells expressing SDF-1 promote hematopoietic stem cell function of human mobilised peripheral blood CD34+ cells in vivo and in vitro. 54 61
20201651 2010
11
NSC114792, a novel small molecule identified through structure-based computational database screening, selectively inhibits JAK3. 54 61
20149240 2010
12
The most frequent DCLRE1C (ARTEMIS) mutations are based on homologous recombination events. 54 61
19953608 2010
13
JAK3 inhibitors in organ transplantation and autoimmune disease. 54 61
19832695 2010
14
New insights into the pathogenesis of adenosine deaminase-severe combined immunodeficiency and progress in gene therapy. 54 61
19779332 2009
15
Integration of retroviral vectors induces minor changes in the transcriptional activity of T cells from ADA-SCID patients treated with gene therapy. 54 61
19652199 2009
16
Dengue virus infection and virus-specific HLA-A2 restricted immune responses in humanized NOD-scid IL2rgammanull mice. 54 61
19802382 2009
17
Eosinophil-derived IFN-gamma induces airway hyperresponsiveness and lung inflammation in the absence of lymphocytes. 54 61
19539982 2009
18
[A compound heterozygosity mutation in the interleukin-7 receptor-alpha gene resulted in severe combined immunodeficiency in a Chinese patient]. 54 61
20021794 2009
19
Lentiviral-mediated genetic correction of hematopoietic and mesenchymal progenitor cells from Fanconi anemia patients. 54 61
19277017 2009
20
Expression of the leukemia oncogene Lmo2 is controlled by an array of tissue-specific elements dispersed over 100 kb and bound by Tal1/Lmo2, Ets, and Gata factors. 54 61
19171877 2009
21
Immunologic analysis of HIV-uninfected Taiwanese children with BCG-induced disease. 54 61
19089604 2009
22
Progress in genetic therapy for severe combined immunodeficiency associated with adenosine deaminase deficiency. 54 61
19337228 2009
23
A novel mutation in the ADA gene causing severe combined immunodeficiency in an Arab patient: a case report. 54 61
19830125 2009
24
Janus kinases in immune cell signaling. 54 61
19290934 2009
25
Novel RAG2 mutation in a patient with T- B- severe combined immunodeficiency and disseminated BCG disease. 54 61
20128425 2009
26
Gene therapy for immunodeficiency due to adenosine deaminase deficiency. 54 61
19179314 2009
27
Clinical heterogeneity can hamper the diagnosis of patients with ZAP70 deficiency. 54 61
18509675 2009
28
Cognitive and behavioral abnormalities in children after hematopoietic stem cell transplantation for severe congenital immunodeficiencies. 54 61
18645040 2008
29
Cutaneous granulomas with predominantly CD8(+) lymphocytic infiltrate in a child with severe combined immunodeficiency. 54 61
18845095 2008
30
Disease-specific induced pluripotent stem cells. 54 61
18691744 2008
31
[Adenosine deaminase deficiency associated severe combined immunodeficiency with disseminated varicella infection after vaccination: a case report]. 54 61
19099832 2008
32
Altered intracellular and extracellular signaling leads to impaired T-cell functions in ADA-SCID patients. 54 61
18218852 2008
33
Restoration of human B-cell differentiation into NOD-SCID mice engrafted with gene-corrected CD34+ cells isolated from Artemis or RAG1-deficient patients. 54 61
18223550 2008
34
Genetic variations in DNA repair genes, radiosensitivity to cancer and susceptibility to acute tissue reactions in radiotherapy-treated cancer patients. 54 61
18568480 2008
35
Interleukin-4-transgenic hu-PBL-SCID mice: a model for the screening of antiviral drugs and immunotherapeutic agents against X4 HIV-1 viruses. 54 61
18171296 2008
36
Successful HLA-identical hematopoietic stem cell transplantation in a patient with purine nucleoside phosphorylase deficiency. 54 61
17910661 2007
37
Crystallization and preliminary X-ray diffraction of human interleukin-7 bound to unglycosylated and glycosylated forms of its alpha-receptor. 54 61
17909291 2007
38
Burkitt's lymphoma in a patient with adenosine deaminase deficiency-severe combined immunodeficiency treated with polyethylene glycol-adenosine deaminase. 54 61
17586199 2007
39
Autoimmune thyroiditis and acquired hypothyroidism in an infant with severe combined immunodeficiency due to adenosine deaminase deficiency. 54 61
17614781 2007
40
Aminohydrolases acting on adenine, adenosine and their derivatives. 54 61
17690732 2007
41
Inhibition of CD26 in human cord blood CD34+ cells enhances their engraftment of nonobese diabetic/severe combined immunodeficiency mice. 54 61
17610364 2007
42
Management options for adenosine deaminase deficiency; proceedings of the EBMT satellite workshop (Hamburg, March 2006). 54 61
17300989 2007
43
Carrier frequency of a nonsense mutation in the adenosine deaminase (ADA) gene implies a high incidence of ADA-deficient severe combined immunodeficiency (SCID) in Somalia and a single, common haplotype indicates common ancestry. 54 61
17181544 2007
44
Nucleases of the metallo-beta-lactamase family and their role in DNA and RNA metabolism. 54 61
17453916 2007
45
Effect of hepatocyte growth factor on long term hematopoiesis of human progenitor cells in transgenic-severe combined immunodeficiency mice. 54 61
17512212 2007
46
[Expression anomalies of the CD3-TCR complex expression and immunodeficiencies]. 54 61
17291425 2007
47
WHIM syndrome myelokathexis reproduced in the NOD/SCID mouse xenotransplant model engrafted with healthy human stem cells transduced with C-terminus-truncated CXCR4. 54 61
16946301 2007
48
Hematopoietic stem cell-engrafted NOD/SCID/IL2Rgamma null mice develop human lymphoid systems and induce long-lasting HIV-1 infection with specific humoral immune responses. 54 61
16954502 2007
49
Interleukin 7 receptor alpha-chain-mutation severe combined immunodeficiency without lymphopenia: correction with haploidentical T-cell-depleted bone marrow transplantation. 54 61
17201233 2006
50
Complete correction of murine Artemis immunodeficiency by lentiviral vector-mediated gene transfer. 54 61
17062750 2006

Variations for Severe Combined Immunodeficiency

ClinVar genetic disease variations for Severe Combined Immunodeficiency:

6 (show all 46) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 IL7R NM_002185.5(IL7R):c.353G>A (p.Cys118Tyr)SNV Pathogenic 36392 rs193922641 5:35867539-35867539 5:35867437-35867437
2 RAG1 NM_000448.2(RAG1):c.2924G>A (p.Arg975Gln)SNV Pathogenic 68693 rs150739647 11:36597778-36597778 11:36576228-36576228
3 IL7R NM_002185.5(IL7R):c.707-2A>GSNV Pathogenic 599352 rs1561424886 5:35874549-35874549 5:35874447-35874447
4 MYH7 NM_000257.4(MYH7):c.2389G>A (p.Ala797Thr)SNV Pathogenic/Likely pathogenic 42901 rs3218716 14:23894525-23894525 14:23425316-23425316
5 RAC2 NM_002872.5(RAC2):c.184G>A (p.Glu62Lys)SNV Pathogenic/Likely pathogenic 464885 rs1555908409 22:37628882-37628882 22:37232842-37232842
6 RAG1 NM_000448.2(RAG1):c.322C>T (p.Arg108Ter)SNV Pathogenic/Likely pathogenic 36714 rs193922464 11:36595176-36595176 11:36573626-36573626
7 JAK3 NM_000215.3(JAK3):c.1767C>T (p.Gly589=)SNV Pathogenic/Likely pathogenic 36416 rs193922362 19:17947957-17947957 19:17837148-17837148
8 JAK3 NM_000215.3(JAK3):c.678_679del (p.Cys227fs)deletion Pathogenic/Likely pathogenic 36423 rs193922364 19:17953307-17953308 19:17842498-17842499
9 ADA NM_000022.4(ADA):c.466C>T (p.Arg156Cys)SNV Pathogenic/Likely pathogenic 1970 rs121908735 20:43254222-43254222 20:44625581-44625581
10 MYOC NM_000261.2(MYOC):c.1102C>T (p.Gln368Ter)SNV Likely pathogenic 7949 rs74315329 1:171605478-171605478 1:171636338-171636338
11 ADA NM_000022.4(ADA):c.872C>G (p.Ser291Trp)SNV Likely pathogenic 35654 rs121908721 20:43249762-43249762 20:44621121-44621121
12 IL7R NM_002185.5(IL7R):c.539A>C (p.His180Pro)SNV Likely pathogenic 36393 rs193922642 5:35873583-35873583 5:35873481-35873481
13 IL7R NM_002185.5(IL7R):c.616_617delinsTA (p.Arg206Ter)indel Likely pathogenic 36394 rs193922643 5:35873660-35873661 5:35873558-35873559
14 IL7R NM_002185.5(IL7R):c.644G>T (p.Gly215Val)SNV Likely pathogenic 36396 rs193922645 5:35873688-35873688 5:35873586-35873586
15 IL7R NM_002185.5(IL7R):c.271_280dup (p.Ile94fs)duplication Likely pathogenic 36391 rs193922640 5:35867456-35867457 5:35867354-35867355
16 IL7R NM_002185.5(IL7R):c.882A>C (p.Leu294Phe)SNV Likely pathogenic 36398 rs193922647 5:35876090-35876090 5:35875988-35875988
17 JAK3 NM_000215.3(JAK3):c.1744C>T (p.Arg582Trp)SNV Likely pathogenic 36415 rs193922361 19:17947980-17947980 19:17837171-17837171
18 RAG2 NM_000536.4(RAG2):c.217C>T (p.Arg73Cys)SNV Likely pathogenic 36719 rs193922574 11:36615502-36615502 11:36593952-36593952
19 JAK3 NM_000215.3(JAK3):c.2143G>A (p.Val715Ile)SNV Likely pathogenic 376714 rs1057520020 19:17945717-17945717 19:17834908-17834908
20