MCID: IMM081
MIFTS: 30

Immunodeficiency 19

Categories: Genetic diseases, Immune diseases

Aliases & Classifications for Immunodeficiency 19

MalaCards integrated aliases for Immunodeficiency 19:

Name: Immunodeficiency 19 54 71 29 69
T Cell-Negative, B Cell-Positive, Nk Cell-Positive Severe Combined Immunodeficiency 71
T Cell-Negative, B Cell-Positive, Nk Cell-Positive Scid 71
Cd3-Delta Deficiency 71
Imd19 71

Characteristics:

OMIM:

54
Inheritance:
autosomal recessive

Miscellaneous:
onset in infancy
death in infancy without bone marrow transplantation


HPO:

32
immunodeficiency 19:
Onset and clinical course infantile onset
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Immunodeficiency 19

OMIM : 54
Immunodeficiency-19 (IMD19) is an autosomal recessive form of severe combined immunodeficiency (SCID) characterized by onset in early infancy of recurrent bacterial, viral, and fungal infections. Patients usually have chronic diarrhea, recurrent respiratory infections, and failure to thrive. Immunologic work-up shows a T cell-negative, B cell-positive, natural killer (NK) cell-positive phenotype. The disorder is lethal in early childhood without bone marrow transplantation (summary by Yu et al., 2011). (615617)

MalaCards based summary : Immunodeficiency 19, also known as t cell-negative, b cell-positive, nk cell-positive severe combined immunodeficiency, is related to severe combined immunodeficiency, t cell-negative, b-cell/natural killer-cell positive, and has symptoms including failure to thrive, recurrent respiratory infections and diarrhea. An important gene associated with Immunodeficiency 19 is CD3D (CD3d Molecule). The drugs Efavirenz and Lamivudine have been mentioned in the context of this disorder. Affiliated tissues include b cells, nk cells and t cells.

UniProtKB/Swiss-Prot : 71 Immunodeficiency 19: An autosomal recessive form of severe combined immunodeficiency characterized by onset in early infancy of recurrent bacterial, viral, and fungal infections. Patients usually have chronic diarrhea, recurrent respiratory infections, and failure to thrive. Immunologic work-up shows a T-cell negative, B-cell positive, NK-cell positive phenotype.

Related Diseases for Immunodeficiency 19

Diseases related to Immunodeficiency 19 via text searches within MalaCards or GeneCards Suite gene sharing:

id Related Disease Score Top Affiliating Genes
1 severe combined immunodeficiency, t cell-negative, b-cell/natural killer-cell positive 11.8

Symptoms & Phenotypes for Immunodeficiency 19

Symptoms via clinical synopsis from OMIM:

54

Growth- Other:
failure to thrive

Immunology:
primary immunodeficiency
lymphopenia
normal b cells
normal nk cells
recurrent infections, bacterial, viral, and fungal
more
Head And Neck- Ears:
otitis media, recurrent

Abdomen- Gastroin testinal:
diarrhea
gastroenteritis

Head And Neck- Mouth:
thrush

Respiratory:
respiratory infections, recurrent


Clinical features from OMIM:

615617

Human phenotypes related to Immunodeficiency 19:

32 (show all 6)
id Description HPO Frequency HPO Source Accession
1 failure to thrive 32 HP:0001508
2 recurrent respiratory infections 32 HP:0002205
3 diarrhea 32 HP:0002014
4 lymphopenia 32 HP:0001888
5 immunodeficiency 32 HP:0002721
6 recurrent otitis media 32 HP:0000403

UMLS symptoms related to Immunodeficiency 19:


diarrhea

Drugs & Therapeutics for Immunodeficiency 19

Drugs for Immunodeficiency 19 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 299)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Efavirenz Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 154598-52-4 64139
2
Lamivudine Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 134678-17-4 60825
3
Lopinavir Approved Phase 4,Phase 3,Phase 2,Phase 1 192725-17-0 92727
4
Ritonavir Approved, Investigational Phase 4,Phase 3,Phase 1,Phase 2 155213-67-5 392622
5
Zidovudine Approved Phase 4,Phase 3,Phase 2,Phase 1 30516-87-1 35370
6
Abacavir Approved, Investigational Phase 4,Phase 3,Phase 2 136470-78-5 65140 441300
7 Dolutegravir Approved Phase 4,Phase 3,Phase 2,Phase 1 1051375-16-6 54726191
8
Emtricitabine Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 143491-57-0 60877
9
Didanosine Approved Phase 4,Phase 3,Phase 2 69655-05-6 50599
10
Artemether Approved Phase 4,Phase 1 71963-77-4 119380 68911
11
Lumefantrine Approved Phase 4,Phase 1 82186-77-4 6437380
12
Miconazole Approved, Investigational, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1 22916-47-8 4189
13
Nevirapine Approved Phase 4,Phase 3,Phase 2 129618-40-2 4463
14
Rifampin Approved Phase 4,Phase 3,Phase 2,Phase 1 13292-46-1 5458213 5381226
15
Ethambutol Approved Phase 4,Phase 3,Phase 2 74-55-5 3279 14052
16
Isoniazid Approved Phase 4,Phase 3,Phase 2,Phase 1 54-85-3 3767
17
Pyrazinamide Approved Phase 4,Phase 3,Phase 2 98-96-4 1046
18
Darunavir Approved Phase 4,Phase 3,Phase 1,Phase 2 635728-49-3, 206361-99-1 213039
19
Sulfamethoxazole Approved Phase 4,Phase 2,Phase 1 723-46-6 5329
20
Trimethoprim Approved, Vet_approved Phase 4,Phase 2,Phase 1 738-70-5 5578
21
Fluconazole Approved Phase 4,Phase 3,Phase 2,Phase 1 86386-73-4 3365
22
Stavudine Approved, Investigational Phase 4,Phase 3,Phase 2 3056-17-5 18283
23
Metronidazole Approved Phase 4 443-48-1 4173
24
Atovaquone Approved Phase 4,Phase 2,Phase 1 95233-18-4 74989
25
Proguanil Approved Phase 4 500-92-5 4923
26
Maraviroc Approved, Investigational Phase 4,Phase 3,Phase 1,Phase 2 376348-65-1 3002977
27
Amikacin Approved, Vet_approved Phase 4,Phase 2 37517-28-5 37768
28
Aminosalicylic Acid Approved Phase 4 65-49-6 4649
29
Capreomycin Approved Phase 4 11003-38-6 3000502
30
Clofazimine Approved, Investigational Phase 4,Phase 2 2030-63-9 2794
31
Cobicistat Approved Phase 4,Phase 3,Phase 1 1004316-88-4
32
Cycloserine Approved Phase 4 68-41-7 401 6234
33
Estradiol Approved, Investigational, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1 50-28-2 5757
34
Ethinyl Estradiol Approved Phase 4,Phase 3,Phase 2,Phase 1 57-63-6 5991
35
Ethionamide Approved Phase 4 536-33-4 2761171
36
Etravirine Approved Phase 4,Phase 2,Phase 1 269055-15-4 193962
37
Levofloxacin Approved, Investigational Phase 4,Phase 3 100986-85-4 149096
38
Moxifloxacin Approved, Investigational Phase 4,Phase 3 354812-41-2, 151096-09-2 152946
39
Norgestimate Approved Phase 4,Phase 3 35189-28-7 6540478
40
Ofloxacin Approved Phase 4,Phase 3 82419-36-1 4583
41
Benzocaine Approved Phase 4,Phase 2 1994-09-7, 94-09-7 2337
42
Bedaquiline Approved Phase 4 843663-66-1
43
Desogestrel Approved Phase 4 54024-22-5 40973
44
Etonogestrel Approved, Investigational Phase 4 54048-10-1 40976 6917715
45
Kanamycin Approved, Vet_approved Phase 4 8063-07-8, 59-01-8 6032
46
Linezolid Approved, Investigational Phase 4 165800-03-3 441401
47
Folic Acid Approved, Nutraceutical, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1 59-30-3 6037
48
leucovorin Approved, Nutraceutical Phase 4,Phase 2,Phase 1 58-05-9 143 6006
49
Pyridoxal Approved, Nutraceutical Phase 4,Phase 3,Phase 2,Phase 1 66-72-8 1050
50
Pyridoxine Approved, Nutraceutical, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1 65-23-6 1054

Interventional clinical trials:

(show top 50) (show all 271)

id Name Status NCT ID Phase Drugs
1 PI Vs. NNRTI Based Therapy for HIV Advanced Disease Unknown status NCT00162643 Phase 4 zidovudine+lamivudine+lopinavir/ritonavir;zidovudine + lamivudine + efavirenz
2 Adjusting Antiretroviral Therapy Dosage Using Therapeutic Drug Monitoring Unknown status NCT00836212 Phase 4 Reducing dose of Lopinavir;Reducing dose of efavirenz
3 Efavirenz to Dolutegravir Switch in Patients With CNS Toxicity Unknown status NCT02285374 Phase 4 Dolutegravir, efavirenz, efavirenz/emtricitabine/tenofovir
4 Once Daily 3TC, Efavirenz and ddI for HIV Infection Unknown status NCT00214435 Phase 4 once daily minimum 3-drug regimen of anti-retroviral medications
5 Drug Interaction Between Coartem® and Nevirapine, Efavirenz or Rifampicin in HIV Positive Ugandan Patients Unknown status NCT00620438 Phase 4 Lumefantrine-artemether and nevirapine;lumefantrine-artemether and efavirenz;Lumefantrine-artemether and rifampicin
6 Efficacy and Safety of Vivaglobin® in Previously Untreated Patients With Primary Immunodeficiency Completed NCT00520494 Phase 4 Vivaglobin
7 Nevirapine vs. Atazanavir Boosted With Ritonavir on a Background of Truvada in Human Immunodeficiency Virus (HIV) Infected Naive Patients (NEwArT) Completed NCT00552240 Phase 4 tenofovir DF 300 mg QD;tenofovir DF 300 mg QD;emtricitabine 200 mg QD;emtricitabine 200 mg QD;Nevirapine 200 mg BID;Atazanavir 300 mg;Ritonavir 100 mg
8 An Immunologic Study of Treatment-Naive HIV Patients Starting a Darunavir/Ritonavir- or Efavirenz-Based HAART Completed NCT01541085 Phase 4 Darunavir/Ritonavir (DRV/r);Efavirenz (EFV)
9 ALTAIR - Alternative Antiretroviral Strategies : a Comparison of Three Initial Regimens Completed NCT00335322 Phase 4 Truvada (fixed dose combination of tenofovir + emtricitabine) + Stocrin (efavirenz);Truvada (fixed dose combination of tenofovir + emtricitabine)+ ritonavir/atazanavir (r/ATV);Truvada (fixed dose combination of tenofovir + emtricitabine) + zidovudine (ZDV) + abacavir (ABC)
10 Once a Day (QD) - Twice a Day (BID) Clinical Trial: Didanosine, Lamivudine and Efavirenz Versus Zidovudine, Lamivudine and Efavirenz in the Starting Treatment of HIV Completed NCT00256828 Phase 4 didanosine + lamivudine + efavirenz
11 Efficacy Study of Different Laboratory Management Strategies and Drug Regimens in HIV-infected Children in Africa Completed NCT02028676 Phase 4 Arm A: ABC+3TC+NNRTI;Arm B: ZDV+ABC+3TC+NNRTI->ABC+3TC+NNRTI maintenance;Arm C: ZDV+ABC+3TC+NNRTI->ZDV+ABC+3TC maintenance;Once-daily ABC+3TC;Twice-daily ABC+3TC;Continued cotrimoxazole prophylaxis
12 Evolution of Plasma Lipid Profile in Patients With HIV1 Who Change Atripla to Eviplera Compared to Continue With Atripla Completed NCT02547844 Phase 4 efavirenz + emtricitabina + tenofovir;rilpivirina + emtricitabina + tenofovir
13 Pharmacokinetics of Lopinavir/Ritonavir Superboosting in Infants and Young Children Co-infected With HIV and TB Completed NCT02348177 Phase 4 lopinavir with ritonavir in 1:1 ratio;Lopinavir/ritonavir 4:1
14 KIVEXA Vs TRUVADA, Both Administered With Efavirenz, In ART-Naive Subjects Completed NCT00549198 Phase 4 Abacavir/lamivudine and efavirenz;Tenofovir/Emtricitabine and efavirenz
15 Fluconazole Prophylaxis of Thrush in AIDS Completed NCT00001542 Phase 4 fluconazole
16 Efavirenz to Nevirapine Switch and Low-Density Lipoprotein (LDL)-Dyslipidemia Completed NCT00405171 Phase 4 Nevirapine
17 PI or NNRTI as First-line Treatment of HIV in West Africa - the PIONA Trial Completed NCT01192035 Phase 4 Efavirenz or Nevirapine;Ritonavir-boosted lopinavir
18 GLASSIA Infusion Rate Study Completed NCT01651351 Phase 4
19 Comparison of Epzicom and Truvada for the Initial Once Daily HIV Treatment Completed NCT00544128 Phase 4 lamivudine, abacavir , ritonavir, atazanavir;emtricitabine, tenofovir, ritonavir, atazanavir
20 Trichomonas Vaginalis Recurrence Among HIV+ Women Completed NCT01018095 Phase 4 Metronidazole
21 Drug Interaction Study Between Atovaquone and Antiretroviral Agents in HIV-1 Infected Patients Completed NCT00421473 Phase 4 Atovaquone / Proguanil
22 Antiretroviral Therapy for Advanced HIV Disease in South Africa Completed NCT00342355 Phase 4 Zidovudine;Stavudine;Didanosine;Lamivudine;Efavirenz;Lopinavir/Ritonavir
23 Single Tablet Regimen (STR) Simplification Study for HIV-1 Infected Patients Completed NCT00365612 Phase 4 Efavirenz (EFV), Emtricitabine (FTC), Tenofovir DF (TDF)
24 Treatment of Acute HIV With Emtricitabine, Tenofovir and Efavirenz (CID 0805) Completed NCT00924898 Phase 4 efavirenz, emtricitabine, and tenofovir
25 REMEMBER: Reducing Early Mortality & Morbidity by Empiric Tuberculosis (TB) Treatment Completed NCT01380080 Phase 4 Atripla (r);Efavirenz;Truvada;Rifampin/isoniazid/pyrazinamide/ethambutol FDC;Rifampin/isoniazid FDC;Isoniazid
26 An Evaluation of the Pharmacological Interaction of Lopinavir/r and Rifampin Completed NCT00771498 Phase 4 Lopinavir
27 Nevirapine Drug Levels in HIV Positive Patients Also Receiving Rifampicin for Tuberculosis Completed NCT00617643 Phase 4 Nevirapine without dose escalation;Nevirapine initiation with dose escalation
28 A Randomized Trial of Three Regimens to Prevent Tuberculosis in HIV-Infected Patients With Anergy Completed NCT00402610 Phase 4 isoniazid, rifampin + isoniazid, rifampin + pyrazinamide or not treatment
29 Evaluation of Three Regimens of Chemoprophylaxis for Tuberculosis in Patients co-Infected by HIV and Mycobacterium Tuberculosis Completed NCT00402454 Phase 4 isoniazid, rifampin + isoniazid or rifampin + pyrazinamide
30 ART Drug Dosage Adjustment in HIV-infected Population Completed NCT02632474 Phase 4 Tenofovir(TDF)+Lamivudine(3TC)+Efavirenz(EFV)
31 Effects of Nevirapine on the Steady State Pharmacokinetics of Fluconazole in HIV Positive Patients Completed NCT02181946 Phase 4 Fluconazole;Nevirapine
32 Compare the Efficacy and Safety of Raltegravir Versus Efavirenz Combination Therapy in Treatment-naïve HIV-1 Patients Completed NCT01989910 Phase 4 Raltegravir;Efavirenz
33 Changes in Liver Steatosis After Switching to Raltegravir in HIV/HCV Coinfection Completed NCT01900015 Phase 4 Raltegravir;Efavirenz
34 Clinical Trial of Brain-Penetrating HIV Drugs to Prevent Cognitive Impairment in China Completed NCT01340950 Phase 4 zidovudine-lamivudine-nevirapine;tenofovir-lamivudine-efavirenz
35 PK Switch Efavirenz to Maraviroc in Patients Initially Suppressed on an Efavirenz-containing Regimen Completed NCT01190293 Phase 4 Maraviroc
36 Sustiva Levels With Use of a Gel Capsule Completed NCT01087814 Phase 4 Efavirenz;Over-encapsulated efavirenz
37 Impact of Oral Hygiene Gels on Peri-implant Mucositis Recruiting NCT03243591 Phase 4
38 Pharmacokinetic Study of Antiretroviral Drugs and Related Drugs During and After Pregnancy Recruiting NCT00042289 Phase 4 atazanavir/cobicistat;darunavir/ritonavir;darunavir/cobicistat;etravirine;elvitegravir/cobicistat;dolutegravir;tenofovir alafenamide fumarate (TAF);TAF/cobicistat;TAF/ritonavir;efavirenz;lopinavir/ritonavir;nevirapine;rifampicin;ethambutol;isoniazid;pyrazinamide;rifampicin;kanamycin;amikacin;capreomycin;moxifloxacin;levofloxacin;ofloxacin;ethionamide/prothionamide;terizidone/cycloserine;para-aminosalicylic acid (PAS);high dose isoniazid (INH);bedaquiline;clofazamine;delamanid;linezolid;pretomanid;atazanavir/ritonavir/tenofovir;ethinyl estradiol oral contraceptive;etonogestrel implant
39 Evaluating the Response to Two Antiretroviral Medication Regimens in HIV-Infected Pregnant Women, Who Begin Antiretroviral Therapy Between 20 and 36 Weeks of Pregnancy, for the Prevention of Mother-to-Child Transmission Recruiting NCT01618305 Phase 4 Lamivudine/zidovudine;Efavirenz;Raltegravir
40 Systematic Empirical vs. Test-guided Anti-TB Treatment Impact in Severely Immunosuppressed HIV-infected Adults Initiating ART With CD4 Cell Counts <100/mm3 Active, not recruiting NCT02057796 Phase 4 ART (Atripla, Truvada, Efavirenz, Combivir);Rifampin, isoniazid, pyrazinamide, ethambutol
41 Hepatic Safety of Raltegravir Versus Efavirenz as HIV Therapy for Patients With HIV and HCV Coinfection Active, not recruiting NCT01147107 Phase 4 Raltegravir;Efavirenz
42 Dosing of Tenofovir and Efavirenz in Antiretroviral Therapy Not yet recruiting NCT02945163 Phase 4 Tenofovir;Lamivudine;Efavirenz
43 Optimization of Antiretroviral Therapy Not yet recruiting NCT02935075 Phase 4 Tenofovir disoproxil;Lamivudine;Efavirenz
44 Immune Reconstitution of Lopinavir/Ritonavir-Based vs Efavirenz-based HAART in Advanced HIV Disease Terminated NCT00775606 Phase 4 Lopinavir 400 mg/ritonavir 100 mg;Efavirenz
45 Randomized Clinical Trial to Assess the Efficacy and Safety of Concomitant Use of Rifampicin and Efavirenz 600 X 800mg Terminated NCT00533390 Phase 4 efavirenz
46 Prevention of Early Mortality by Presumptive Tuberculosis (TB) Treatment Terminated NCT01417988 Phase 4 Experimental: Empiric TB treatment;ART only arm
47 Switching From Efavirenz to Atazanavir/ Ritonavir in HIV-infected Subjects With Good Virologic Suppression Terminated NCT01194856 Phase 4 Atazanavir/ritonavir;Efavirenz
48 Short Course Intermittent Regimens for the Treatment of HIV-Associated Tuberculosis Unknown status NCT00376012 Phase 3 Anti-TB drugs (Ethambutol, Isoniazid, Rifampicin and Pyrazinamide);Anti-TB drugs (Ethambutol, Isoniazid, Rifampicin and Pyrazinamide)
49 Safety and Efficacy of Two Once Daily Anti Retroviral Treatment Regimens Along With Anti-tuberculosis Treatment Unknown status NCT00332306 Phase 3 Didanosine, Lamivudine, Efavirenz;Didanosine, Lamivudine, Nevirapine
50 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 efavirenz

Search NIH Clinical Center for Immunodeficiency 19

Genetic Tests for Immunodeficiency 19

Genetic tests related to Immunodeficiency 19:

id Genetic test Affiliating Genes
1 Immunodeficiency 19 29

Anatomical Context for Immunodeficiency 19

MalaCards organs/tissues related to Immunodeficiency 19:

39
B Cells, Nk Cells, T Cells, Bone, Bone Marrow, Testes, Liver

Publications for Immunodeficiency 19

Variations for Immunodeficiency 19

ClinVar genetic disease variations for Immunodeficiency 19:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 CD3D NM_000732.4(CD3D): c.202C> T (p.Arg68Ter) single nucleotide variant Pathogenic rs111033580 GRCh37 Chromosome 11, 118211162: 118211162
2 CD3D NM_000732.4(CD3D): c.279C> A (p.Cys93Ter) single nucleotide variant Pathogenic rs111033581 GRCh37 Chromosome 11, 118210617: 118210617
3 CD3D NM_000732.4(CD3D): c.274+5G> A single nucleotide variant Pathogenic rs730880296 GRCh38 Chromosome 11, 118340370: 118340370

Expression for Immunodeficiency 19

Search GEO for disease gene expression data for Immunodeficiency 19.

Pathways for Immunodeficiency 19

GO Terms for Immunodeficiency 19

Sources for Immunodeficiency 19

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
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....