MCID: IMM167
MIFTS: 79

Immune Deficiency Disease

Categories: Blood diseases, Immune diseases, Rare diseases

Aliases & Classifications for Immune Deficiency Disease

MalaCards integrated aliases for Immune Deficiency Disease:

Name: Immune Deficiency Disease 57 29 72
Immunodeficiency 29 55 6 40
Primary Immunodeficiency Disease 12 37 15
Primary Immunodeficiency 59 29 6
Immunologic Deficiency Syndromes 44 72
Primary Immune Deficiency Disorder 72
Immune Deficiency Disorder 12
Immunodeficiency Syndrome 12
Immune System Diseases 72
Immune Disorder 55
Hypoimmunity 12

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
immune deficiency disease:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 59  
Rare immunological diseases


External Ids:

Disease Ontology 12 DOID:612
OMIM 57 242850
KEGG 37 H01725
ICD9CM 35 279.3
MeSH 44 D007153
NCIt 50 C3131 C39725
SNOMED-CT 68 64431000
UMLS via Orphanet 73 C0398686
Orphanet 59 ORPHA101997
MedGen 42 C1855771
UMLS 72 C0021051 C0021053 C0398686 more

Summaries for Immune Deficiency Disease

KEGG : 37
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 immune system disease, 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 Innate Immune System and ERK Signaling. The drugs Zidovudine and Abacavir have been mentioned in the context of this disorder. Affiliated tissues include t cells, testes and bone, and related phenotypes are cellular immunodeficiency and recurrent bacterial infections

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 : 75 Immunodeficiency is a state in which the immune system's ability to fight infectious disease and cancer... more...

More information from OMIM: 242850

Related Diseases for Immune Deficiency Disease

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

(show top 50) (show all 2721)
# Related Disease Score Top Affiliating Genes
1 immunodeficiency with hyper-igm, type 4 35.0 CD40LG CD40
2 immune system disease 32.5 IL4 IL2 IL10
3 toxoplasmosis 32.4 IL4 IL10 CD79A CD40LG CD40 CCR5
4 agammaglobulinemia, x-linked 32.0 SH2D1A CD79A CD40LG CD40 BTK
5 pulmonary tuberculosis 31.9 IL4 IL2 IL10 IFNGR1
6 uveitis 31.9 IL4 IL2RA IL10
7 human immunodeficiency virus infectious disease 31.9 ITIH4 IL2 IL10 CXCR4 CD4 CCR5
8 leishmaniasis 31.9 IL4 IL10 IFNGR1
9 burkitt lymphoma 31.9 SH2D1A IL4 CD40LG CD40
10 visceral leishmaniasis 31.8 IL4 IL2 IL10
11 omenn syndrome 31.7 RAG2 IL4 IL10 IFNGR1
12 autoimmune disease 31.7 IL4 IL2RA IL2 IL10 CD40LG CD40
13 vulvovaginal candidiasis 31.6 IL4 IL2 CD79A
14 ocular toxoplasmosis 31.6 CD79A CD40LG CCR5
15 lymphocytic leukemia 31.6 IL4 IL2 BTK ATM
16 toxic shock syndrome 31.5 IL4 IL2 IL10
17 paracoccidioidomycosis 31.5 IL4 IL2 IL10
18 acute graft versus host disease 31.4 IL4 IL2RA IL2 IL10
19 sporotrichosis 31.4 IL10 CD79A CD40LG
20 coccidioidomycosis 31.4 RAG2 IL10 IFNGR1
21 chagas disease 31.4 IL2 IL10 CCR5
22 immunoglobulin a deficiency 1 31.4 CD79A CD40LG BTK
23 light fixation seizure syndrome 31.4 CD40LG CD40
24 coccidiosis 31.3 IL4 IL2 IL10
25 tropical spastic paraparesis 31.3 IL2RA IL2 IL10
26 otitis media 31.3 IL4 IL10 CD79A
27 schistosomiasis 31.3 IL4 IL2 IL10 IFNGR1 CD40LG
28 parasitic protozoa infectious disease 31.3 IL4 IL2 IL10
29 acquired immunodeficiency syndrome 31.3 ITIH4 IL2RA IL2 IL10 CD4 CCR5
30 systemic lupus erythematosus 31.2 IL4 IL2RA IL2 IL10 CD79A CD40LG
31 myeloma, multiple 31.2 IL2 CXCR4 CD79A CD40
32 congenital hypogammaglobulinemia 31.2 IL4 CD79A BTK
33 intermediate uveitis 31.2 IL2RA IL2 IL10
34 bone inflammation disease 31.1 IL4 IL2 IL10
35 transient hypogammaglobulinemia of infancy 31.1 IL4 IL10 CD40LG CD40 BTK
36 macroglobulinemia 31.1 CXCR4 CD40LG BTK
37 pulmonary sarcoidosis 31.1 IL2RA IL2 CCR5
38 brucellosis 31.1 IL4 IL2RA IL2 IL10 CD40LG
39 b cell deficiency 31.1 SH2D1A CD40LG CD40 BTK
40 poliomyelitis 31.0 IL4 IL10 BTK
41 immunodeficiency with hyper-igm, type 1 31.0 IL4 CD79A CD40LG CD40 BTK
42 chlamydia 31.0 IL4 IL10 CD79A
43 chronic graft versus host disease 31.0 IL2RA IL10 CD79A CD4
44 leukemia, chronic lymphocytic 31.0 IL4 IL2RA IL2 CXCR4 CD40LG CD40
45 mumps 31.0 RIPK1 IL2RA IL2
46 trypanosomiasis 31.0 IL4 IL2 IL10
47 immunoglobulin g deficiency 31.0 CD79A CD40LG
48 immunodysregulation, polyendocrinopathy, and enteropathy, x-linked 31.0 WAS SH2D1A RAG2 ITIH4 IL4 IL2RA
49 tetanus 31.0 IL4 IL2RA IL2 IL10 CD79A CD40LG
50 dermatitis, atopic 31.0 WAS IL4 IL2 IL10

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

Symptoms & Phenotypes for Immune Deficiency Disease

Human phenotypes related to Immune Deficiency Disease:

32 (show all 7)
# Description HPO Frequency HPO Source Accession
1 cellular immunodeficiency 32 HP:0005374
2 recurrent bacterial infections 32 HP:0002718
3 recurrent viral infections 32 HP:0004429
4 decreased circulating total igm 32 HP:0002850
5 fulminant hepatitis 32 HP:0004787
6 cholangitis 32 HP:0030151
7 humoral immunodeficiency 32 HP:0005363

Symptoms via clinical synopsis from OMIM:

57
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 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-1 9.8 ATM CD40LG CXCR4 IL10 IL2 IL2RA
2 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-2 9.8 ATM CD40LG CXCR4 IL10 IL2 IL2RA

MGI Mouse Phenotypes related to Immune Deficiency Disease:

46 (show all 15)
# Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 10.45 ATM BTK CCR5 CD4 CD40 CD40LG
2 cellular MP:0005384 10.44 ATM BTK CCR5 CD4 CD40LG CD79A
3 homeostasis/metabolism MP:0005376 10.43 ATM BTK CCR5 CD4 CD40 CD40LG
4 immune system MP:0005387 10.41 ATM BTK CCR5 CD4 CD40 CD40LG
5 endocrine/exocrine gland MP:0005379 10.32 ATM CD4 CD40 CD40LG CXCR4 IFNGR1
6 digestive/alimentary MP:0005381 10.3 BTK CCR5 CD4 CXCR4 IFNGR1 IL10
7 cardiovascular system MP:0005385 10.25 ATM CCR5 CD40LG CXCR4 IFNGR1 IL10
8 mortality/aging MP:0010768 10.21 ATM BTK CCR5 CD4 CD40LG CXCR4
9 integument MP:0010771 10.13 ATM BTK CD4 CD40LG CXCR4 IFNGR1
10 liver/biliary system MP:0005370 10.06 CCR5 CD79A IFNGR1 IL10 IL2 IL4
11 neoplasm MP:0002006 10.06 ATM BTK CCR5 CD79A CXCR4 IFNGR1
12 nervous system MP:0003631 10 ATM CCR5 CD4 CD40 CD40LG CD79A
13 no phenotypic analysis MP:0003012 9.63 CD4 CD79A IL10 IL2 IL4 MYH7
14 renal/urinary system MP:0005367 9.5 CD40 CD40LG CD79A CXCR4 IFNGR1 IL4
15 reproductive system MP:0005389 9.28 ATM CCR5 CD40LG CXCR4 IFNGR1 IL10

Drugs & Therapeutics for Immune Deficiency Disease

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

(show top 50) (show all 886)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Zidovudine Approved Phase 4 30516-87-1 35370
2
Abacavir Approved, Investigational Phase 4 136470-78-5 65140 441300
3
Peginterferon alfa-2a Approved, Investigational Phase 4 198153-51-4 5360545
4
Mecasermin Approved, Investigational Phase 4 68562-41-4
5
Morphine Approved, Investigational Phase 4 57-27-2 5288826
6
Lercanidipine Approved, Investigational Phase 4 100427-26-7 65866
7
Candesartan cilexetil Approved Phase 4 145040-37-5 2540
8
Clonidine Approved Phase 4 4205-90-7 2803
9
Alendronate Approved Phase 4 66376-36-1, 121268-17-5 2088
10
Oseltamivir Approved Phase 4 204255-11-8, 196618-13-0 65028
11
Tobramycin Approved, Investigational Phase 4 32986-56-4 36294 5496
12
Vancomycin Approved Phase 4 1404-90-6 441141 14969
13
tannic acid Approved Phase 4 1401-55-4
14
Benzocaine Approved, Investigational Phase 4 94-09-7, 1994-09-7 2337
15
Azithromycin Approved Phase 4 83905-01-5 447043 55185
16
Didanosine Approved Phase 4 69655-05-6 50599
17
Pregabalin Approved, Illicit, Investigational Phase 4 148553-50-8 5486971
18
Rifabutin Approved, Investigational Phase 4 72559-06-9 6323490 46783538
19
Methadone Approved, Illicit Phase 4 76-99-3 4095
20
Fosamprenavir Approved Phase 4 226700-79-4 131536
21
Acyclovir Approved Phase 4 59277-89-3 2022
22
Enfuvirtide Approved, Investigational Phase 4 159519-65-0 16130199
23
Aminosalicylic Acid Approved Phase 4 65-49-6 4649
24
Rifampicin Approved Phase 4 13292-46-1 5381226 5458213
25
Megestrol acetate Approved, Investigational, Vet_approved Phase 4 595-33-5 11683
26
Tacrolimus Approved, Investigational Phase 4 104987-11-3 445643 439492 6473866
27
Pyrazinamide Approved, Investigational Phase 4 98-96-4 1046
28
Hydrocortisone acetate Approved, Vet_approved Phase 4 50-03-3
29
Hydrocortisone Approved, Vet_approved Phase 4 50-23-7 5754
30
Lidocaine Approved, Vet_approved Phase 4 137-58-6 3676
31
Metformin Approved Phase 4 657-24-9 4091 14219
32
Stavudine Approved, Investigational Phase 4 3056-17-5 18283
33
Aspirin Approved, Vet_approved Phase 4 50-78-2 2244
34
Rifaximin Approved, Investigational Phase 4 80621-81-4 46783403 6436173
35
Ceftriaxone Approved Phase 4 73384-59-5 5479530 5361919
36
Ampicillin Approved, Vet_approved Phase 4 69-53-4 6249
37
Magnesium Sulfate Approved, Investigational, Vet_approved Phase 4 7487-88-9 24083
38
Penicillin G Approved, Vet_approved Phase 4 61-33-6 5904
39
Epinephrine Approved, Vet_approved Phase 4 51-43-4 5816
40
Racepinephrine Approved Phase 4 329-65-7 838
41
Mupirocin Approved, Investigational, Vet_approved Phase 4 12650-69-0 446596
42
Sulfamethazine Approved, Investigational, Vet_approved Phase 4 57-68-1 5327
43
Rivastigmine Approved, Investigational Phase 4 123441-03-2 77991
44
Lovastatin Approved, Investigational Phase 4 75330-75-5 53232
45
Oxacillin Approved, Investigational Phase 4 66-79-5 6196
46
Tinidazole Approved, Investigational Phase 4 19387-91-8 5479
47
Sultamicillin Approved, Investigational Phase 4 76497-13-7
48
Sulbactam Approved Phase 4 68373-14-8
49
Granisetron Approved, Investigational Phase 4 109889-09-0 3510
50
Palonosetron Approved, Investigational Phase 4 119904-90-4, 135729-61-2, 135729-56-5 148211

Interventional clinical trials:

(show top 50) (show all 3355)
# 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 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
6 The Dolutegravir Antiretroviral Mono-Therapy for HIV Trial Unknown status NCT02401828 Phase 4 Dolutegravir
7 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)
8 Immunodeficiency in Cartilage-hair Hypoplasia: Correlation With Pulmonary Disease, Infections and Malignancy Unknown status NCT02383797 Phase 4
9 Adjusting Antiretroviral Therapy Dosage Using Therapeutic Drug Monitoring Unknown status NCT00836212 Phase 4 Reducing dose of Lopinavir;Reducing dose of efavirenz
10 Efficacy of Intrathecal Administration of Liposomal Amphotericin B in Cryptococcal Meningitis Without Acquired Immune Deficiency Syndrome Unknown status NCT02686853 Phase 4 Liposomal amphotericin B
11 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
12 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)
13 Pilot Study of the Effect of a Non-tenofovir, Non-efavirenz-based HIV Regimen on Bone Density and Vitamin D Levels in African-American Patients With HIV Infection Unknown status NCT01343225 Phase 4 atripla;darunavir ritonavir raltegravir
14 The Time to Protection and Adherence Requirements of Raltegravir With or Without Lamivudine in Protection From HIV Infection Unknown status NCT03205566 Phase 4 Raltegravir 400Mg Tab;Lamivudine 150Mg Tablet
15 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
16 Normal Oxygenation Maintenance in Intensive Care Unit: Randomized Controlled Trial Unknown status NCT01319643 Phase 4 Oxygen
17 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
18 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
19 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
20 Lopinavir/Ritonavir or Efavirenz as First-line Antiretroviral Therapy in Brazil: a "Real Life" Study Unknown status NCT01049685 Phase 4 First-line Antiretroviral Therapy
21 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
22 A Multi-centre, Prospective, Randomised Trial of Short Course Alendronate Therapy or Placebo Combined With Vitamin D and Calcium to Prevent Loss of Bone Mineral Density in Antiretroviral-naïve, HIV-1 Infected Subjects Initiating Antiretroviral Therapy Unknown status NCT02322099 Phase 4 Alendronate;Placebo;Tenofovir disoproxil
23 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
24 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
25 Pegasys Plus Entecavir Versus Entecavir Alone for Hepatitis Be Antigen-Positive Chronic Hepatitis B Unknown status NCT00597259 Phase 4 Pegasys plus Entecavir;Entecavir
26 Pegasys Plus Entecavir Versus Entecavir Versus Pegasys for Hepatitis B e Antigen-Negative Chronic Hepatitis B Unknown status NCT01925820 Phase 4 Pegasys&Entecavir
27 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
28 Aerosolized Antibiotics in the Treatment of Ventilator Associated Pneumonia: A Pilot Study Unknown status NCT02478710 Phase 4 Aerosolized Tobramycin or Vancomycin;Aerosolized Placebo
29 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
30 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
31 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
32 Phase IV, Non Randomized Study in ARV Experienced Patients Under Switch Therapy With Kaletra Completed NCT00648999 Phase 4 lopinavir/ritonavir
33 An Open-label Single Oral Dose Study to Evaluate the Safety, Tolerability, and Pharmacokinetics of MK-0518 1200 mg (600 mg Tablet × 2) in Healthy Japanese Male Participants Completed NCT03667547 Phase 4 Raltegravir
34 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
35 Intervention of HIV, Drug Use and the Criminal Justice System in Malaysia Completed NCT02396979 Phase 4 Methadone
36 An Open-label Phase III Study to Provide Access to Fosamprenavir and to Assess the Long Term Safety and Tolerability of Fosamprenavir Containing Regimens in HIV Infected Patients With Limited Treatment Options Completed NCT00240552 Phase 4 fosamprenavir;Telzir®
37 Prospective Epidemiological Study of the Prevalence of HLAB*5701 in HIV-1 Infected Patients Completed NCT00441688 Phase 4 GI265235
38 Safety and Immunogenicity of Cervarix™ in Human Immunodeficiency Virus Infected Females Completed NCT01031069 Phase 4
39 Mesalamine to Reduce T Cell Activation in HIV Infection Completed NCT01090102 Phase 4 Mesalamine (5-aminosalicylic acid, Apriso);Placebo
40 A Multicenter Study on the Efficacy and Safety of Vivaglobin® in Previously Untreated Patients (PUPs) With Primary Immunodeficiency (PID) Completed NCT00520494 Phase 4 Vivaglobin
41 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
42 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
43 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
44 Randomized, Multi-Center, Phase IV, Comparative Study to Assess the Efficacy and Safety of Combined Peg-Interferon Alpha-2a (40 kD) With Ribavirin Combined Therapy for 48 or 72 Weeks of Treatment and 24 Weeks of Follow-Up in Patients With Chronic Hepatitis C, Genotype 1, Co-Infected With Human Immunodeficiency Virus Completed NCT02761629 Phase 4 Peg-Interferon Alpha-2A;Ribavirin
45 Project STRIDE2 - Seek/Test/Retain: PLWHA and Opioid Users in Washington, DC Completed NCT03583138 Phase 4 buprenorphine
46 A Pilot Study of Daily TDF/FTC-based PrEP Among High-risk Toronto MSM:The PREPARATORY-5 Study Completed NCT02149888 Phase 4 Tenofovir/emtricitabine
47 An Open-Label, Parallel Group, Single And Multiple Dose Study To Evaluate The Pharmacokinetics, Safety And Toleration Of Maraviroc Administered To Subjects With Various Degrees Of Renal Impaired And Normal Renal Function Completed NCT00717067 Phase 4 Maraviroc;Maraviroc;Ritonavir;Saquinavir;Maraviroc;Ritonavir;Saquinavir;Maraviroc;Ritonavir;Saquinavir;Maraviroc;Maraviroc;Maraviroc
48 Mechanisms of Immune Reconstitution & Reduced Immune Activation Following Darunavir-based ART Completed NCT01869634 Phase 4 darunavir with ritonavir and fixed-dose viread+emtricitabine daily
49 Immunogenicity and Safety of Trivalent Influenza Vaccine in Non-pregnant HIV- Infected Women: An Open Label Trial. Completed NCT01812980 Phase 4
50 A Prospective, Randomized, Multicenter, Open-Label Study to Compare the Efficacy and Safety of Simplifying From a Regimen of Atazanavir (ATV) + Ritonavir (RTV) + Tenofovir/Emtricitabine to ATV + Abacavir/Lamivudine Without RTV in Virologically Suppressed, HIV-1 Infected, HLA-B*5701 Negative Subjects Completed NCT01102972 Phase 4 Reyataz + Norvir + Truvada;Reyataz + Epzicom

Search NIH Clinical Center for Immune Deficiency Disease

Inferred drug relations via UMLS 72 / NDF-RT 51 :


Immune Globulin Human
Intramuscular immunoglobulin
varicella-zoster immune globulin
Venoglobulin-I
Vorhyaluronidase alfa

Cochrane evidence based reviews: immunologic deficiency syndromes

Genetic Tests for Immune Deficiency Disease

Genetic tests related to Immune Deficiency Disease:

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

Anatomical Context for Immune Deficiency Disease

MalaCards organs/tissues related to Immune Deficiency Disease:

41
T Cells, Testes, Bone, B Cells, Bone Marrow, Liver, Brain

Publications for Immune Deficiency Disease

Articles related to Immune Deficiency Disease:

(show top 50) (show all 33094)
# Title Authors PMID Year
1
Intrahepatic sclerosing cholangitis associated with a familial immunodeficiency syndrome. 38 8
4123291 1973
2
Fitness epistasis and constraints on adaptation in a human immunodeficiency virus type 1 protein region. 9 38
20157005 2010
3
Persistence of CCR5 usage among primary human immunodeficiency virus isolates of individuals receiving intermittent interleukin-2. 9 38
20015219 2010
4
In-solution virus capture assay helps deconstruct heterogeneous antibody recognition of human immunodeficiency virus type 1. 9 38
20089658 2010
5
Feline programmed death and its ligand: characterization and changes with feline immunodeficiency virus infection. 9 38
19931185 2010
6
Tuberculosis in children with congenital immunodeficiency syndromes. 9 38
20517730 2010
7
New insights into the pathogenesis of adenosine deaminase-severe combined immunodeficiency and progress in gene therapy. 9 38
19779332 2009
8
Combined immunodeficiency associated with DOCK8 mutations. 9 38
19776401 2009
9
A quantitative affinity-profiling system that reveals distinct CD4/CCR5 usage patterns among human immunodeficiency virus type 1 and simian immunodeficiency virus strains. 9 38
19692480 2009
10
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. 9 38
19587137 2009
11
Clinical manifestation of mannose-binding lectin deficiency in adults independent of concomitant immunodeficiency. 9 38
19580835 2009
12
ADAR1 interacts with PKR during human immunodeficiency virus infection of lymphocytes and contributes to viral replication. 9 38
19605474 2009
13
Adenosine deaminase in patients with primary immunodeficiency syndromes: the analysis of serum ADA1 and ADA2 activities. 9 38
19026999 2009
14
Formation of syncytia is repressed by tetraspanins in human immunodeficiency virus type 1-producing cells. 9 38
19458002 2009
15
Pharmacovirological impact of an integrase inhibitor on human immunodeficiency virus type 1 cDNA species in vivo. 9 38
19458008 2009
16
Hypomorphic mutation of ZAP70 in human results in a late onset immunodeficiency and no autoimmunity. 9 38
19548248 2009
17
Human immunodeficiency virus and hepatitis C infections induce distinct immunologic imprints in peripheral mononuclear cells. 9 38
19551908 2009
18
Integrase interacts with nucleoporin NUP153 to mediate the nuclear import of human immunodeficiency virus type 1. 9 38
19369352 2009
19
Recombinase-activating gene 1 immunodeficiency: different immunological phenotypes in three siblings. 9 38
19243569 2009
20
Major histocompatibility complex class II molecule-human immunodeficiency virus peptide analysis using a microarray chip. 9 38
19225081 2009
21
O-linked N-acetylglucosaminylation of Sp1 inhibits the human immunodeficiency virus type 1 promoter. 9 38
19193796 2009
22
Gene therapy for immunodeficiency due to adenosine deaminase deficiency. 9 38
19179314 2009
23
Neutropenia and primary immunodeficiency diseases. 9 38
19811314 2009
24
Pegademase bovine (PEG-ADA) for the treatment of infants and children with severe combined immunodeficiency (SCID). 9 38
19707420 2009
25
Differential sensitivity of "old" versus "new" APOBEC3G to human immunodeficiency virus type 1 vif. 9 38
19004939 2009
26
Bromodomain protein Brd4 regulates human immunodeficiency virus transcription through phosphorylation of CDK9 at threonine 29. 9 38
18971272 2009
27
Baseline resistance of primary human immunodeficiency virus type 1 strains to the CXCR4 inhibitor AMD3100. 9 38
18799588 2008
28
Biochemical characterization of a recombinant TRIM5alpha protein that restricts human immunodeficiency virus type 1 replication. 9 38
18799573 2008
29
Inhibition of human immunodeficiency virus type 1 replication by blocking IkappaB kinase with noraristeromycin. 9 38
18713798 2008
30
Characterization of polymorphisms in the mannose-binding lectin gene promoter among human immunodeficiency virus 1 infected subjects. 9 38
19057812 2008
31
Functional characterization of the human immunodeficiency virus type 1 Nef acidic domain. 9 38
18653452 2008
32
Human immunodeficiency virus type 1 replication and regulation of APOBEC3G by peptidyl prolyl isomerase Pin1. 9 38
18684817 2008
33
The secondary structure of the human immunodeficiency virus type 1 transcript modulates viral splicing and infectivity. 9 38
18550660 2008
34
Relationship between human immunodeficiency type 1 infection and expression of human APOBEC3G and APOBEC3F. 9 38
18598197 2008
35
Impaired naive and memory B-cell responsiveness to TLR9 stimulation in human immunodeficiency virus infection. 9 38
18524824 2008
36
Preclinical evaluation of 1H-benzylindole derivatives as novel human immunodeficiency virus integrase strand transfer inhibitors. 9 38
18541726 2008
37
Salivary human immunodeficiency virus (HIV)-1-specific immunoglobulin A in HIV-1-exposed infants in Kenya. 9 38
18505437 2008
38
An alteration of human immunodeficiency virus gp41 leads to reduced CCR5 dependence and CD4 independence. 9 38
18353949 2008
39
ICF, an immunodeficiency syndrome: DNA methyltransferase 3B involvement, chromosome anomalies, and gene dysregulation. 9 38
18432406 2008
40
Hepatic inflammatory cytokine mRNA expression in hepatitis C virus-human immunodeficiency virus co-infection. 9 38
18179452 2008
41
Evaluation and clinical interpretation of hypergammaglobulinemia E: differentiating atopy from immunodeficiency. 9 38
18450128 2008
42
X-linked ectodermal dysplasia with immunodeficiency caused by NEMO mutation: early recognition and diagnosis. 9 38
18347290 2008
43
Heat shock perturbs TRIM5alpha restriction of human immunodeficiency virus type 1. 9 38
18077709 2008
44
A human immunodeficiency virus protease inhibitor is a novel functional inhibitor of human pregnane X receptor. 9 38
18096673 2008
45
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. 9 38
18199657 2008
46
CD134 and CXCR4 expression corresponds to feline immunodeficiency virus infection of lymphocytes, macrophages and dendritic cells. 9 38
18089752 2008
47
N-Myristoyltransferase isozymes exhibit differential specificity for human immunodeficiency virus type 1 Gag and Nef. 9 38
18089753 2008
48
Integrase inhibitors: a new treatment option for patients with human immunodeficiency virus infection. 9 38
18154479 2008
49
Hematopoietic stem cell transplantation corrects the immunologic abnormalities associated with immunodeficiency-centromeric instability-facial dysmorphism syndrome. 9 38
17908720 2007
50
Identification of the optimal DC-SIGN binding site on human immunodeficiency virus type 1 gp120. 9 38
17522223 2007