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MCID: IMM167
MIFTS: 78

Immune Deficiency Disease

Categories: Blood diseases, Immune diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
Sources

Aliases & Classifications for Immune Deficiency Disease

About this section

MalaCards integrated aliases for Immune Deficiency Disease:

Name: Immune Deficiency Disease 56 29 71
Immunodeficiency 29 54 6 39
Primary Immunodeficiency Disease 12 36 15
Primary Immunodeficiency 58 29 6
Immunologic Deficiency Syndromes 43 71
Primary Immune Deficiency Disorder 71
Immune Deficiency Disorder 12
Immunodeficiency Syndrome 12
Immune System Diseases 71
Immune Disorder 54
Hypoimmunity 12

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive


HPO:

31
immune deficiency disease:
Inheritance autosomal recessive inheritance


Classifications:

MalaCards categories:
Global: Rare diseases
Anatomical: Immune diseases Blood diseases
See all MalaCards categories (disease lists)
ICD10: 32
Orphanet: 58  
Rare immunological diseases


External Ids:

Disease Ontology 12 DOID:612
OMIM 56 242850
KEGG 36 H01725
ICD9CM 34 279.3
MeSH 43 D007153
NCIt 49 C3131
SNOMED-CT 67 234532001
UMLS via Orphanet 72 C0398686
Orphanet 58 ORPHA101997
MedGen 41 C1855771
UMLS 71 C0021051 C0021053 C0398686 more
Sources

Summaries for Immune Deficiency Disease

About this section
KEGG : 36 Primary immunodeficiency diseases (PIDs) are genetically determined disorders of the immune system resulting in greatly enhanced susceptibility to infectious disease, autoimmunity and malignancy. Many are associated with single gene defects, whereas others may be polygenic or may represent interactions of genetically determined characteristics with environmental or infectious stresses. There are more than 150 different disorders which have been described till date. PIDs are broadly classified as disorders of adaptive immunity (i.e., T-cell, B-cell or combined immunodeficiencies) or of innate immunity (e.g., phagocyte and complement disorders). Early diagnosis and treatment are imperative for preventing significant disease-associated morbidity.

MalaCards based summary : Immune Deficiency Disease, also known as immunodeficiency, is related to immunodeficiency with hyper-igm, type 4 and jak3-deficient severe combined immunodeficiency, and has symptoms including pathological conditions, signs and symptoms An important gene associated with Immune Deficiency Disease is RAG2 (Recombination Activating 2), and among its related pathways/superpathways are Primary immunodeficiency and Innate Immune System. The drugs Abacavir and Morphine have been mentioned in the context of this disorder. Affiliated tissues include t cells, testes and bone, and related phenotypes are cellular immunodeficiency and decreased circulating total igm

Disease Ontology : 12 An immune system disease that results when one or more essential parts of the immune system is missing or not working properly at birth due to a genetic mutation.

Wikipedia : 74 Immunodeficiency or immunocompromise is a state in which the immune system's ability to fight infectious... more...

More information from OMIM: 242850
Sources

Related Diseases for Immune Deficiency Disease

About this section

Diseases related to Immune Deficiency Disease via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 2773)
# Related Disease Score Top Affiliating Genes
1 immunodeficiency with hyper-igm, type 4 35.0 CD40LG CD27
2 jak3-deficient severe combined immunodeficiency 34.7 IL4 IL2
3 combined t cell and b cell immunodeficiency 34.3 SH2D1A RAG2 RAC2 MYH7 IL4 IL2RA
4 immunodeficiency with hyper-igm, type 3 33.8 CD40LG CD40 CD4
5 lymphoproliferative syndrome 33.8 SH2D1A IL2RA IL2 IL10 CD27
6 t cell deficiency 33.7 IL2 CD40LG CD4 CD27
7 oral hairy leukoplakia 33.4 SH2D1A ITIH4 CD4
8 immune system disease 33.1 IL4 IL2 IL10 CD40LG CD4
9 trichohepatoenteric syndrome 1 33.1 RAG2 CD27 BTK
10 lymphoma 32.8 SH2D1A IL4 IL2RA IL2 IL10 CXCR4
11 inflammatory bowel disease 25, autosomal recessive 32.8 RIPK1 IL10
12 toxoplasmosis 32.7 IL4 IL10 IFNGR1 CD79A CD40LG CD40
13 encephalitis 32.4 ITIH4 IL4 IL10 CXCR4 CD40LG CCR5
14 agammaglobulinemia, x-linked 32.3 SH2D1A IL4 IL2 CXCR4 CD79A CD40LG
15 human immunodeficiency virus infectious disease 32.3 ITIH4 IL4 IL2RA IL2 IL10 CXCR4
16 cryptococcosis 32.2 IL4 IL10 CD4
17 bacterial infectious disease 32.2 ITIH4 IL10 CD40LG CD4 BTK
18 meningitis 32.2 IL4 IL2 IL10 CD40LG BTK
19 leishmaniasis 32.2 IL4 IL2RA IL2 IL10 IFNGR1 CD40
20 pneumocystosis 32.1 CD40LG CD4 CCR5
21 burkitt lymphoma 32.1 SH2D1A IL4 IL10 CD40LG CD40 ATM
22 myocarditis 32.1 IL4 IL2 IL10 CD40LG CD40
23 autoimmune disease 32.1 IL4 IL2RA IL2 IL10 CD79A CD40LG
24 severe combined immunodeficiency 32.1 RAG2 RAC2 MYH7 IL4 IL2RA IL2
25 herpes zoster 32.1 IL2 IL10 CD40LG CD4 CCR5
26 progressive multifocal leukoencephalopathy 32.1 IL2 CD40LG CD4
27 exanthem 32.1 IL2 IL10 CD40LG CD4
28 cryptosporidiosis 32.0 CD79A CD40LG CD4
29 pulmonary tuberculosis 32.0 IL4 IL2RA IL2 IL10 IFNGR1
30 uveitis 32.0 IL4 IL2RA IL2 IL10 CCR5
31 omenn syndrome 32.0 SH2D1A RAG2 IL4 IL2 IL10 IFNGR1
32 syphilis 31.9 CD79A CD40LG CD4 CCR5
33 central nervous system lymphoma 31.9 IL2 IL10 CXCR4
34 cholangitis 31.9 IL2 IL10 CD40LG CCR5
35 rheumatoid arthritis 31.9 SH2D1A IL4 IL2RA IL2 IL10 CXCR4
36 mycobacterium tuberculosis 1 31.9 IL4 IL10 IFNGR1 CXCR4 CD4
37 visceral leishmaniasis 31.9 IL4 IL2 IL10 IFNGR1
38 meningoencephalitis 31.9 IL4 IL10 CD79A CD40LG CD4
39 t-cell lymphoblastic leukemia/lymphoma 31.8 RAG2 IL2RA IL2 CD40 CD4
40 autoimmune lymphoproliferative syndrome 31.8 SH2D1A RIPK1 IL2RA IL2 IL10 CD40LG
41 fungal infectious disease 31.8 IL4 IL2 IL10 CD40LG CD4
42 systemic lupus erythematosus 31.8 IL4 IL2RA IL2 IL10 CXCR4 CD79A
43 peripheral nervous system disease 31.8 IL4 IL2 IL10 CD40LG CD4
44 pancytopenia 31.8 SH2D1A IL2RA CD40LG CD4
45 inflammatory bowel disease 31.8 RIPK1 IL4 IL2RA IL2 IL10 IFNGR1
46 sclerosing cholangitis 31.8 IL2 IL10 CD40LG CCR5
47 chorioretinitis 31.8 IL2 IL10 CD40LG CD4
48 toxic shock syndrome 31.7 IL4 IL2 IL10 CD40LG CD40
49 myeloma, multiple 31.7 IL4 IL2 IL10 CXCR4 CD79A CD40LG
50 chagas disease 31.7 IL4 IL2 IL10 CD4 CCR5

Comorbidity relations with Immune Deficiency Disease via Phenotypic Disease Network (PDN):


Acute Cystitis Bronchitis
Deficiency Anemia Heart Disease
Neutropenia Rheumatoid Arthritis

Graphical network of the top 20 diseases related to Immune Deficiency Disease:



Diseases related to Immune Deficiency Disease
Sources

Symptoms & Phenotypes for Immune Deficiency Disease

About this section

Human phenotypes related to Immune Deficiency Disease:

31 (show all 7)
# Description HPO Frequency HPO Source Accession
1 cellular immunodeficiency 31 HP:0005374
2 decreased circulating total igm 31 HP:0002850
3 recurrent bacterial infections 31 HP:0002718
4 recurrent viral infections 31 HP:0004429
5 fulminant hepatitis 31 HP:0004787
6 cholangitis 31 HP:0030151
7 humoral immunodeficiency 31 HP:0005363

Symptoms via clinical synopsis from OMIM:

56
G I:
fulminant hepatitis
intrahepatic sclerosing cholangitis

Misc:
susceptibility to both bacterial and viral infections
septicemia common

Immunology:
partial humoral immunodeficiency
partial cellular immunodeficiency
severe igm deficiency
primary immunization antibody response defective

Clinical features from OMIM:

242850

UMLS symptoms related to Immune Deficiency Disease:


pathological conditions, signs and symptoms

GenomeRNAi Phenotypes related to Immune Deficiency Disease according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased viability with MLN4924 (a NAE inhibitor) GR00250-A-1 9.73 ATM IL2
2 Increased viability with MLN4924 (a NAE inhibitor) GR00250-A-2 9.73 ATM BTK CD27 CD40LG CXCR4 IL10
3 Increased viability with MLN4924 (a NAE inhibitor) GR00250-A-3 9.73 ATM CD40
4 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-1 9.4 CD40LG CXCR4 IL10 IL2RA RIPK1
5 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-2 9.4 ATM CXCR4 IL10 IL2 IL2RA RIPK1
6 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-3 9.4 ATM

MGI Mouse Phenotypes related to Immune Deficiency Disease:

45 (show all 13)
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.44 ATM BTK CCR5 CD27 CD4 CD40LG
2 hematopoietic system MP:0005397 10.41 ATM BTK CCR5 CD27 CD4 CD40
3 homeostasis/metabolism MP:0005376 10.39 ATM BTK CCR5 CD4 CD40 CD40LG
4 immune system MP:0005387 10.36 ATM BTK CCR5 CD27 CD4 CD40
5 endocrine/exocrine gland MP:0005379 10.29 ATM CD4 CD40 CD40LG CXCR4 IFNGR1
6 cardiovascular system MP:0005385 10.26 ATM CCR5 CD40LG CXCR4 IFNGR1 IL10
7 digestive/alimentary MP:0005381 10.24 BTK CCR5 CD4 CXCR4 IFNGR1 IL10
8 mortality/aging MP:0010768 10.16 ATM BTK CCR5 CD4 CD40LG CD79A
9 integument MP:0010771 10.07 ATM BTK CD4 CD40LG CXCR4 IFNGR1
10 liver/biliary system MP:0005370 9.97 CCR5 CD79A IFNGR1 IL10 IL2 IL4
11 neoplasm MP:0002006 9.85 ATM BTK CCR5 CD79A CXCR4 IFNGR1
12 nervous system MP:0003631 9.7 ATM CCR5 CD4 CD40 CD40LG CD79A
13 reproductive system MP:0005389 9.32 ATM CCR5 CD40LG CXCR4 IFNGR1 IL10
Sources

Drugs & Therapeutics for Immune Deficiency Disease

About this section

Drugs for Immune Deficiency Disease (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 833)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Abacavir Approved, Investigational Phase 4 136470-78-5 441300 65140
2
Morphine Approved, Investigational Phase 4 57-27-2 5288826
3
Valsartan Approved, Investigational Phase 4 137862-53-4 60846
4
Lercanidipine Approved, Investigational Phase 4 100427-26-7 65866
5
Candesartan cilexetil Approved Phase 4 145040-37-5 2540
6
Clonidine Approved Phase 4 4205-90-7 2803
7
Oseltamivir Approved Phase 4 204255-11-8, 196618-13-0 65028
8
Tobramycin Approved, Investigational Phase 4 32986-56-4 36294 5496
9
Vancomycin Approved Phase 4 1404-90-6 14969 441141
10
tannic acid Approved Phase 4 1401-55-4
11
Benzocaine Approved, Investigational Phase 4 94-09-7, 1994-09-7 2337
12
Fluconazole Approved, Investigational Phase 4 86386-73-4 3365
13
Didanosine Approved Phase 4 69655-05-6 50599
14
Methadone Approved Phase 4 76-99-3 4095
15
Acyclovir Approved Phase 4 59277-89-3 2022
16
Sofosbuvir Approved Phase 4 1190307-88-0 45375808
17
Aminosalicylic Acid Approved Phase 4 65-49-6 4649
18
Fosamprenavir Approved Phase 4 226700-79-4 131536
19
Megestrol acetate Approved, Investigational, Vet_approved Phase 4 595-33-5 11683
20
Rifabutin Approved, Investigational Phase 4 72559-06-9 6323490 46783538
21
Enfuvirtide Approved, Investigational Phase 4 159519-65-0 16130199
22
Stavudine Approved, Investigational Phase 4 3056-17-5 18283
23
Metformin Approved Phase 4 657-24-9 14219 4091
24
Sorbitol Approved Phase 4 50-70-4 5780
25
Rifaximin Approved, Investigational Phase 4 80621-81-4 6436173 46783403
26
Pregabalin Approved, Investigational Phase 4 148553-50-8 5486971
27
Ampicillin Approved, Vet_approved Phase 4 69-53-4 6249
28
Ledipasvir Approved Phase 4 1256388-51-8 67505836
29
Magnesium Sulfate Approved, Investigational, Vet_approved Phase 4 7487-88-9 24083
30
Penicillin G Approved, Vet_approved Phase 4 61-33-6 5904
31
Procaine Approved, Investigational, Vet_approved Phase 4 59-46-1 4914
32
Lidocaine Approved, Vet_approved Phase 4 137-58-6 3676
33
Hydrocortisone Approved, Vet_approved Phase 4 50-23-7 5754
34
Hydrocortisone acetate Approved, Vet_approved Phase 4 50-03-3
35
Aspirin Approved, Vet_approved Phase 4 50-78-2 2244
36
Mupirocin Approved, Investigational, Vet_approved Phase 4 12650-69-0 446596
37
Rivastigmine Approved, Investigational Phase 4 123441-03-2 77991
38
Lovastatin Approved, Investigational Phase 4 75330-75-5 53232
39
Tinidazole Approved, Investigational Phase 4 19387-91-8 5479
40
Oxacillin Approved, Investigational Phase 4 66-79-5 6196
41
Epinephrine Approved, Vet_approved Phase 4 51-43-4 5816
42
Racepinephrine Approved Phase 4 329-65-7 838
43
Sulbactam Approved Phase 4 68373-14-8
44
Sultamicillin Approved, Investigational Phase 4 76497-13-7
45
Aprepitant Approved, Investigational Phase 4 170729-80-3 6918365 151165
46
Palonosetron Approved, Investigational Phase 4 135729-56-5, 119904-90-4 148211
47
Granisetron Approved, Investigational Phase 4 109889-09-0 3510
48
Gemifloxacin Approved, Investigational Phase 4 175463-14-6 5464436 9571107
49
Hexetidine Approved, Investigational Phase 4 141-94-6
50
Saxagliptin Approved Phase 4 361442-04-8 11243969

Interventional clinical trials:

(show top 50) (show all 3728)
# Name Status NCT ID Phase Drugs
1 Diagnostic Immunization With Rabies Vaccine in Patients With Primary Immunodeficiency Disorders Unknown status NCT02490956 Phase 4
2 A Randomised Controlled Trial of a Strategy of Switching to Boosted PI Monotherapy Versus Continuing Combination ART for the Long-term Management of HIV-1 Infected Patients Who Have Achieved Sustained Virological Suppression on HAART Unknown status NCT01230580 Phase 4 Protease Inhibitor;Standard-of-care Antiretroviral therapy
3 Integral Research of the Managing and Treatment of the Infection With Human Immunodeficiency (VIH) /Human Immunodeficiency Syndrome(SIDA) Co-infection With Latent Tuberculosis Infection. A Multidisciplinary and Interinstitucional Approach Unknown status NCT01875952 Phase 4 Isoniazid
4 Boosted PI VS. NNRTI Based Therapy as Initial Treatment for HIV-1 Infected Patients With Advanced Disease Unknown status NCT00162643 Phase 4 zidovudine+lamivudine+lopinavir/ritonavir;zidovudine + lamivudine + efavirenz
5 Research on the Antiretroviral Therapy and Immune Reconstitution on Chinese HIV/AIDS Patients Unknown status NCT00872417 Phase 4 first line ARV (3TC+NVP+D4T or 3TC+NVP+AZT);second line ARV therapy (3TC+TDF+LPV/RTV)
6 Efficacy of Intrathecal Administration of Liposomal Amphotericin B in Cryptococcal Meningitis Without Acquired Immune Deficiency Syndrome Unknown status NCT02686853 Phase 4 Liposomal amphotericin B
7 Topical Cyclosporine for the Treatment of Dry Eye in Patients Infected With the Human Immunodeficiency Virus Unknown status NCT00797030 Phase 4 cyclosporine and sodium carboximethycellulose;sodium carboximethycellulose
8 The Polysaccharide Antibody Response Study: Typhim Vi Response and Allohemagglutinins Versus Pneumovax 23 Vaccine Response in the Diagnosis of Specific Polysaccharide Antibody Deficiency Unknown status NCT02429531 Phase 4
9 Evaluating the Feasibility and Acceptability of Implementing a PrEP Program in PR-CoNCRA (San Juan, Puerto Rico)- Part B Unknown status NCT03120494 Phase 4 Emtricitabine and Tenofovir
10 Immune Reconstitution as a Determinant of Adverse Effects to New Antiretroviral Therapy in Persons With Advanced HIV Infection Unknown status NCT00885664 Phase 4 Truvada (tenofovir/emitricitabine);Kaletra (lopinavir/ritonavir)
11 Adjusting Antiretroviral Therapy Dosage Using Therapeutic Drug Monitoring Unknown status NCT00836212 Phase 4 Reducing dose of Lopinavir;Reducing dose of efavirenz
12 A Randomised, Multi-Centre, Open-Label Study in Well-Controlled Treatment-Experienced HIV-Infected Patients to Assess Compliance With a Once-Daily Regimen of Lamivudine, Efavirenz and Didanosine Versus Continuation of Current Anti-Retroviral Regimen Delivered at Least Twice Daily Unknown status NCT00214435 Phase 4 once daily minimum 3-drug regimen of anti-retroviral medications
13 Normal Oxygenation Maintenance in Intensive Care Unit: Randomized Controlled Trial Unknown status NCT01319643 Phase 4 Oxygen
14 Effect of Midazolam on Inflammatory Response and Organ Function in Mechanically Ventilated Sepsis Patients With Different Immune Status. Unknown status NCT02135055 Phase 4 Midazolam;Morphine
15 Hydroxychloroquine Sulfate Alleviates Persistent Proteinuria in IgA Nephropathy:a Single Center Prospective Randomized Controlled Study Unknown status NCT02765594 Phase 4 Hydroxychloroquine Sulfate;Valsartan
16 Effects of Antihypertensive Treatment on Cardiac Remodelling and Metabolic Profile in HIV Infected Patients: Randomized Longitudinal Study With Candesartan Versus Lercanidipine Unknown status NCT00564057 Phase 4 candesartan;lercanidipine
17 Lopinavir/Ritonavir or Efavirenz as First-line Antiretroviral Therapy in Brazil: a "Real Life" Study Unknown status NCT01049685 Phase 4 First-line Antiretroviral Therapy
18 Status of the Growth Hormone/ Insulin-like Growth Factor-1 (GH/IGF-1) Axis in Relation to Growth Failure, Body Weight and Neuroprotection in Children With Ataxia Telangiectasia Unknown status NCT01052623 Phase 4 Somatropin, Clonidine, L-Arginin-Hydrochloride, Estradiol valerate
19 Effect of a Treatment Switch From Protease Inhibitor to Raltegravir-based ART on Myeloid Cell Inflammation in HIV-infected Patients. Unknown status NCT02691065 Phase 4 Integrase Inhibitor
20 Banlangen Granules Anti-seasonal Influenza Study: a Randomized, Double Blind, Positive and Placebo Controlled，Clinical Study. Unknown status NCT02232945 Phase 4 placebo of oseltamivir phosphate;oseltamivir phosphate;Banlangen (Radix Isatidis) granules;placebo of Banlangen(Radix Isatidis) granules
21 Pegasys Plus Entecavir Versus Entecavir Alone for Hepatitis Be Antigen-Positive Chronic Hepatitis B Unknown status NCT00597259 Phase 4 Pegasys plus Entecavir;Entecavir
22 Pegasys Plus Entecavir Versus Entecavir Versus Pegasys for Hepatitis B e Antigen-Negative Chronic Hepatitis B Unknown status NCT01925820 Phase 4 Pegasys&Entecavir
23 Aerosolized Antibiotics in the Treatment of Ventilator Associated Pneumonia: A Pilot Study Unknown status NCT02478710 Phase 4 Aerosolized Tobramycin or Vancomycin;Aerosolized Placebo
24 Systematic Empirical vs. Test-guided Anti-tuberculosis Treatment Impact in Severely Immunosuppressed HIV-infected Adults Initiating Antiretroviral Therapy With CD4 Cell Counts <100/mm3: the STATIS Randomized Controlled Trial Unknown status NCT02057796 Phase 4 ART (Atripla, Truvada, Efavirenz, Combivir);Rifampin, isoniazid, pyrazinamide, ethambutol
25 A Phase IV Open-label, Multi-centre, Randomised, Dual-arm, Pilot Study to Assess the Feasibility of Switching Individuals Receiving Efavirenz With Continuing Central Nervous System (CNS) Toxicity, to Dolutegravir Unknown status NCT02285374 Phase 4 Dolutegravir, efavirenz, efavirenz/emtricitabine/tenofovir
26 1-Year Longitudinal Follow-up Study of Serologic Responses to 7-valent Pneumococcal Conjugated Vaccination and Opsonophagocytic Activities for Streptococcus Pneumoniae Among Patients With Human Immunodeficiency Virus Infection Unknown status NCT00885625 Phase 4
27 Evaluation of the Efficacy and Safety of Flebogamma 5% DIF [Immune Globulin Intravenous (Human)] for Replacement Therapy in Pediatric Subjects With Primary Immunodeficiency Diseases. Completed NCT00634569 Phase 4
28 A Phase IV, Multicenter, Open-Label Study to Evaluate the Efficacy, Safety and Pharmacokinetics of Gammaplex in Primary Immunodeficiency Diseases (PID) in Children and Adolescents Completed NCT01289847 Phase 4
29 A Randomized, Cross-over Study to Compare Quality of Life and Satisfaction in Primary Immunodeficient Patients Treated With Subcutaneous Injections of Gammanorm® 165 mg/mL According to the Delivery Device: Injections Using Pump or Rapid Push. Completed NCT02180763 Phase 4
30 Intervention of HIV, Drug Use and the Criminal Justice System in Malaysia Completed NCT02396979 Phase 4 Methadone
31 Prospective Epidemiological Study of the Prevalence of HLAB*5701 in HIV-1 Infected Patients Completed NCT00441688 Phase 4 GI265235
32 Mesalamine to Reduce T Cell Activation in HIV Infection Completed NCT01090102 Phase 4 Mesalamine (5-aminosalicylic acid, Apriso);Placebo
33 A Multicenter Study on the Efficacy and Safety of Vivaglobin® in Previously Untreated Patients (PUPs) With Primary Immunodeficiency (PID) Completed NCT00520494 Phase 4 Vivaglobin
34 An Open-label, Single-sequence, Crossover Study to Evaluate the Pharmacokinetics, Safety and Tolerability of Subcutaneous GAMUNEX®-C in Pediatric Subjects With Primary Immunodeficiency Completed NCT01465958 Phase 4
35 An Open-Label Study of Nevirapine Plus Combivir® (ZDV+3TC) Treatment in Women Who Have Previously Received a Nevirapine Regimen for the Prevention of Mother to Child Transmission (pMTCT) of HIV-1. Completed NCT00144157 Phase 4 Nevirapine;Zidovudine;3TC
36 A Pilot Study to Evaluate Anti-Hepatitis C Virus Effect of Maraviroc in Patients Co-infected With Human Immunodeficiency Virus (HIV) and Hepatitis C Completed NCT02881762 Phase 4 Maraviroc
37 A Pilot Study of Daily TDF/FTC-based PrEP Among High-risk Toronto MSM:The PREPARATORY-5 Study Completed NCT02149888 Phase 4 Tenofovir/emtricitabine
38 Immunogenicity and Safety of Trivalent Influenza Vaccine in Non-pregnant HIV- Infected Women: An Open Label Trial. Completed NCT01812980 Phase 4
39 Assessment of the IgG Trough Level in Subjects With Primary Immunodeficiency Switching From Standard Subcutaneous Immunoglobulin (SCIG) to Every Other Week HyQvia Completed NCT02881437 Phase 4 IgHy10
40 An Open-label Multicenter Study to Evaluate the Safety and Tolerability of Higher Infusion Parameters of Immune Globulin Subcutaneous (Human), 20% Liquid (Hizentra®) in Subjects With Primary Immunodeficiency Completed NCT03033745 Phase 4 IgPro20
41 Safety of Cotrimoxazole in HIV- and HAART-exposed Infants in Botswana Completed NCT01086878 Phase 4 cotrimoxazole
42 A Pharmacokinetic Study to Evaluate the Interaction Between Nevirapine (Viramune®) and Methadone in HIV-1 Infected, Opioid-dependent Adults on Stable Methadone Maintenance Therapy Completed NCT00273988 Phase 4 nevirapine
43 A Pharmacokinetics Study Comparing Lopinavir Plasma Exposure When Given as Lopinavir/Ritonavir (1:1) in the Presence of Rifampicin and Lopinavir/Ritonavir (4:1) Without Rifampicin in HIV and TB Co-infected Children in South Africa. Completed NCT02348177 Phase 4 lopinavir with ritonavir in 1:1 ratio;Lopinavir/ritonavir 4:1
44 The Effects of Statin Therapy on Coronary Flow Reserve and Inflammatory Markers in HIV-Positive Patients Completed NCT02234492 Phase 4 Rosuvastatin
45 Long-term Safety of Subjects Continuing Dolutegravir After Participation in Clinical Studies of Dolutegravir in Russian Federation Completed NCT03314064 Phase 4 Dolutegravir 50 mg
46 Omacor; Omega-3-Acid Ethyl Ester 90 (n-3 PUFA) and Risk Factors in HIV Infected Patients Treated With HAART, With Special Focus on Lipids Completed NCT00296153 Phase 4 Omega-3-acid ethyl esters 90
47 A Study in HIV+ Patients With CCR5-tropic Virus and Undetectable Viral Load on a First, Non-Selzentry®-Containing Regimen, Switching Them to Once-daily Selzentry® (600mg qd) Plus the Same 2 NRTIs Previously Administered Completed NCT01866267 Phase 4 Maraviroc
48 A Randomised Controlled Clinical Trial of the Efficacy of HAART Intensification With Maraviroc in HIV Virally Suppressed Patients With Cognitive Impairment Completed NCT01449006 Phase 4 Maraviroc
49 Fluconazole Prophylaxis of Thrush in AIDS Completed NCT00001542 Phase 4 fluconazole
50 A Randomised, Cross-over Study to Compare Quality of Life and Satisfaction in Primary Immunodeficient Patients Treated With Subcutaneous Injections of Gammanorm® 165 mg/mL Administered With Two Different Delivery Devices: Injections Using Pump or Rapid Push Completed NCT02503293 Phase 4

Search NIH Clinical Center for Immune Deficiency Disease

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


Intramuscular immunoglobulin
varicella-zoster immune globulin
Venoglobulin-I

Cochrane evidence based reviews: immunologic deficiency syndromes

Sources

Genetic Tests for Immune Deficiency Disease

About this section

Genetic tests related to Immune Deficiency Disease:

# Genetic test Affiliating Genes
1 Immune Deficiency Disease 29
2 Immunodeficiency 29
3 Primary Immunodeficiency 29
Sources

Anatomical Context for Immune Deficiency Disease

About this section

MalaCards organs/tissues related to Immune Deficiency Disease:

40
T Cells, Testes, Bone, B Cells, Liver, Bone Marrow, Brain
Sources

Publications for Immune Deficiency Disease

About this section

Articles related to Immune Deficiency Disease:

(show top 50) (show all 33173)
# Title Authors PMID Year
1
Intrahepatic sclerosing cholangitis associated with a familial immunodeficiency syndrome. 61 56
4123291 1973
2
Fitness epistasis and constraints on adaptation in a human immunodeficiency virus type 1 protein region. 61 54
20157005 2010
3
Persistence of CCR5 usage among primary human immunodeficiency virus isolates of individuals receiving intermittent interleukin-2. 54 61
20015219 2010
4
In-solution virus capture assay helps deconstruct heterogeneous antibody recognition of human immunodeficiency virus type 1. 61 54
20089658 2010
5
Feline programmed death and its ligand: characterization and changes with feline immunodeficiency virus infection. 61 54
19931185 2010
6
Tuberculosis in children with congenital immunodeficiency syndromes. 61 54
20517730 2010
7
Generation of a human immunodeficiency virus type 1 chronically infected monkey B cell line expressing low levels of endogenous TRIM5alpha. 54 61
19746418 2009
8
New insights into the pathogenesis of adenosine deaminase-severe combined immunodeficiency and progress in gene therapy. 61 54
19779332 2009
9
Combined immunodeficiency associated with DOCK8 mutations. 61 54
19776401 2009
10
A quantitative affinity-profiling system that reveals distinct CD4/CCR5 usage patterns among human immunodeficiency virus type 1 and simian immunodeficiency virus strains. 61 54
19692480 2009
11
Enhanced T- and B-cell responses to simian immunodeficiency virus (SIV)agm, SIVmac and human immunodeficiency virus type 1 Gag DNA immunization and identification of novel T-cell epitopes in mice via codon optimization. 61 54
19587137 2009
12
Integrase interactor 1 (Ini1/hSNF5) is a repressor of basal human immunodeficiency virus type 1 promoter activity. 61 54
19515827 2009
13
Clinical manifestation of mannose-binding lectin deficiency in adults independent of concomitant immunodeficiency. 61 54
19580835 2009
14
ADAR1 interacts with PKR during human immunodeficiency virus infection of lymphocytes and contributes to viral replication. 61 54
19605474 2009
15
Adenosine deaminase in patients with primary immunodeficiency syndromes: the analysis of serum ADA1 and ADA2 activities. 54 61
19026999 2009
16
Formation of syncytia is repressed by tetraspanins in human immunodeficiency virus type 1-producing cells. 61 54
19458002 2009
17
Pharmacovirological impact of an integrase inhibitor on human immunodeficiency virus type 1 cDNA species in vivo. 54 61
19458008 2009
18
Human immunodeficiency virus and hepatitis C infections induce distinct immunologic imprints in peripheral mononuclear cells. 61 54
19551908 2009
19
Integrase interacts with nucleoporin NUP153 to mediate the nuclear import of human immunodeficiency virus type 1. 54 61
19369352 2009
20
Hypomorphic mutation of ZAP70 in human results in a late onset immunodeficiency and no autoimmunity. 54 61
19548248 2009
21
Recombinase-activating gene 1 immunodeficiency: different immunological phenotypes in three siblings. 54 61
19243569 2009
22
Expression and processing of human immunodeficiency virus type 1 gp160 using the vesicular stomatitis virus New Jersey serotype vector system. 54 61
19264597 2009
23
O-linked N-acetylglucosaminylation of Sp1 inhibits the human immunodeficiency virus type 1 promoter. 54 61
19193796 2009
24
Major histocompatibility complex class II molecule-human immunodeficiency virus peptide analysis using a microarray chip. 61 54
19225081 2009
25
Neutropenia and primary immunodeficiency diseases. 61 54
19811314 2009
26
Differential sensitivity of "old" versus "new" APOBEC3G to human immunodeficiency virus type 1 vif. 61 54
19004939 2009
27
Bromodomain protein Brd4 regulates human immunodeficiency virus transcription through phosphorylation of CDK9 at threonine 29. 61 54
18971272 2009
28
Pegademase bovine (PEG-ADA) for the treatment of infants and children with severe combined immunodeficiency (SCID). 61 54
19707420 2009
29
Gene therapy for immunodeficiency due to adenosine deaminase deficiency. 61 54
19179314 2009
30
Biochemical characterization of a recombinant TRIM5alpha protein that restricts human immunodeficiency virus type 1 replication. 54 61
18799573 2008
31
Baseline resistance of primary human immunodeficiency virus type 1 strains to the CXCR4 inhibitor AMD3100. 61 54
18799588 2008
32
Inhibition of human immunodeficiency virus type 1 replication by blocking IkappaB kinase with noraristeromycin. 54 61
18713798 2008
33
Human immunodeficiency virus type 1 replication and regulation of APOBEC3G by peptidyl prolyl isomerase Pin1. 54 61
18684817 2008
34
Functional characterization of the human immunodeficiency virus type 1 Nef acidic domain. 54 61
18653452 2008
35
The secondary structure of the human immunodeficiency virus type 1 transcript modulates viral splicing and infectivity. 54 61
18550660 2008
36
Relationship between human immunodeficiency type 1 infection and expression of human APOBEC3G and APOBEC3F. 54 61
18598197 2008
37
Impaired naive and memory B-cell responsiveness to TLR9 stimulation in human immunodeficiency virus infection. 61 54
18524824 2008
38
Preclinical evaluation of 1H-benzylindole derivatives as novel human immunodeficiency virus integrase strand transfer inhibitors. 54 61
18541726 2008
39
Salivary human immunodeficiency virus (HIV)-1-specific immunoglobulin A in HIV-1-exposed infants in Kenya. 61 54
18505437 2008
40
An alteration of human immunodeficiency virus gp41 leads to reduced CCR5 dependence and CD4 independence. 54 61
18353949 2008
41
NEDD4L overexpression rescues the release and infectivity of human immunodeficiency virus type 1 constructs lacking PTAP and YPXL late domains. 54 61
18321968 2008
42
ICF, an immunodeficiency syndrome: DNA methyltransferase 3B involvement, chromosome anomalies, and gene dysregulation. 54 61
18432406 2008
43
Hepatic inflammatory cytokine mRNA expression in hepatitis C virus-human immunodeficiency virus co-infection. 54 61
18179452 2008
44
Evaluation and clinical interpretation of hypergammaglobulinemia E: differentiating atopy from immunodeficiency. 54 61
18450128 2008
45
Heat shock perturbs TRIM5alpha restriction of human immunodeficiency virus type 1. 54 61
18077709 2008
46
A human immunodeficiency virus protease inhibitor is a novel functional inhibitor of human pregnane X receptor. 61 54
18096673 2008
47
X-linked ectodermal dysplasia with immunodeficiency caused by NEMO mutation: early recognition and diagnosis. 61 54
18347290 2008
48
Selective downregulation of rhesus macaque and sooty mangabey major histocompatibility complex class I molecules by Nef alleles of simian immunodeficiency virus and human immunodeficiency virus type 2. 61 54
18199657 2008
49
CD134 and CXCR4 expression corresponds to feline immunodeficiency virus infection of lymphocytes, macrophages and dendritic cells. 61 54
18089752 2008
50
N-Myristoyltransferase isozymes exhibit differential specificity for human immunodeficiency virus type 1 Gag and Nef. 54 61
18089753 2008