Immune Deficiency Disease

Categories: Blood diseases, Cancer diseases, Immune diseases, Rare diseases

Aliases & Classifications for Immune Deficiency Disease

MalaCards integrated aliases for Immune Deficiency Disease:

Name: Immune Deficiency Disease 57 29 70
Immunodeficiency 29 54 6 39
Primary Immunodeficiency Disease 12 36 15
Primary Immunodeficiency 58 29 6
Immunologic Deficiency Syndromes 44 70
Primary Immune Deficiency Disorder 70
Immune Deficiency Disorder 12
Immunodeficiency Syndrome 12
Immune System Diseases 70
Immune Disorder 54
Hypoimmunity 12



57 (Updated 20-May-2021)
autosomal recessive


immune deficiency disease:
Inheritance autosomal recessive inheritance


Orphanet: 58  
Rare immunological diseases

External Ids:

Disease Ontology 12 DOID:612
OMIM® 57 242850
KEGG 36 H01725
ICD9CM 34 279.3
MeSH 44 D007153
NCIt 50 C39725
SNOMED-CT 67 191005003
UMLS via Orphanet 71 C0398686
Orphanet 58 ORPHA101997
MedGen 41 C1855771
UMLS 70 C0021051 C0021053 C0398686 more

Summaries for Immune Deficiency Disease

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 immunodysregulation, polyendocrinopathy, and enteropathy, x-linked and immunodeficiency with hyper-igm, type 4, 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 Morphine and Methotrexate have been mentioned in the context of this disorder. Affiliated tissues include t cells, bone and liver, 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 : 73 Immunodeficiency, also known as immunocompromisation, is a state in which the immune system's ability to... 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 2733)
# Related Disease Score Top Affiliating Genes
1 immunodysregulation, polyendocrinopathy, and enteropathy, x-linked 33.1 IL4 IL2 IL10 CD4
2 immunodeficiency with hyper-igm, type 4 33.0 CD40LG CD27
3 jak3-deficient severe combined immunodeficiency 32.8 IL4 IL2
4 lymphoproliferative syndrome 2 32.8 CD4 CD27-AS1 CD27
5 t cell deficiency 32.7 RAG2 IL2 CD4 CD27
6 lymphoproliferative syndrome 32.7 IL2 IL10 CD40LG CD27
7 oral hairy leukoplakia 32.5 ITIH4 IL10 CD4
8 toxoplasmosis 32.4 IL4 IL10 CD79A CD40LG
9 immune system disease 32.4 IL4 IL2 IL10 CD4
10 cryptococcosis 32.1 IL4 IL10 CD4
11 chickenpox 32.1 IL4 IL2 IL10 CD4 CD27
12 human immunodeficiency virus infectious disease 32.0 ITIH4 IL4 IL2 IL10 CD79A CD4
13 pneumocystosis 32.0 IL2 CD40LG CD4
14 lymphoma, non-hodgkin, familial 32.0 SYK IL2 CD79A CD4 CD27 ATM
15 progressive multifocal leukoencephalopathy 31.9 IL2 CD40LG CD4
16 exanthem 31.9 SYK IL2 IL10 CD4
17 common variable immunodeficiency 31.9 RAG2 RAC2 IL4 IL2 IL10 CD79A
18 cryptosporidiosis 31.9 CD79A CD40LG CD4
19 myocarditis 31.9 IL4 IL2 IL10 CD40LG
20 combined immunodeficiency 31.7 RAG2 RAC2 MYOC MYH7 IL4 IL2
21 herpes zoster 31.7 IL2 IL10 CD4
22 syphilis 31.7 CD79A CD40LG CD4
23 fungal infectious disease 31.7 SYK IL4 IL2 IL10 CD4
24 severe combined immunodeficiency 31.7 RAG2 RAC2 MYOC MYH7 IL4 IL2
25 autoimmune lymphoproliferative syndrome 31.7 RIPK1 IL2 IL10 CD4 CD27
26 colitis 31.6 SYK IL4 IL2 IL10 CD4
27 meningoencephalitis 31.6 IL10 CD79A CD40LG CD4
28 disease by infectious agent 31.6 ITIH4 IL4 IL2 IL10 CD4
29 b cell deficiency 31.6 IL4 IL2 IL10 CD40LG CD4 CD27
30 chorioretinitis 31.5 IL2 IL10 CD4
31 toxic shock syndrome 31.5 IL4 IL2 IL10 CD40LG
32 purpura 31.5 IL4 IL10 CD79A
33 systemic lupus erythematosus 31.5 SYK IL4 IL2 IL10 CD79A CD40LG
34 chagas disease 31.5 IL4 IL2 IL10 CD4
35 agammaglobulinemia, x-linked 31.5 SYK CD79A CD40LG CD4
36 immunodeficiency with hyper-igm, type 1 31.5 RAG2 IL4 CD79A CD40LG CD4 CD27
37 acquired immunodeficiency syndrome 31.5 ITIH4 IL2 IL10 CD79A CD40LG CD4
38 omenn syndrome 31.4 RAG2 IL4 IL10 CD40LG CD4
39 leukemia, chronic lymphocytic 31.4 SYK IL4 IL2 IL10 CD79A CD40LG
40 stomatitis 31.4 IL4 IL2 IL10 CD4
41 strongyloidiasis 31.4 IL4 CD79A CD4
42 demyelinating disease 31.4 IL4 IL2 IL10 CD40LG CD4
43 asthma 31.3 SYK IL4 IL2 IL10 CD79A CD40LG
44 thrombocytopenia 31.3 SYK IL4 IL2 IL10 CD79A CD40LG
45 leprosy 3 31.3 IL4 IL2 IL10 CD4
46 lymphopenia 31.3 RAC2 MYOC MYH7 IL4 IL2 IL10
47 lipoprotein quantitative trait locus 31.3 MYH7 IL4 IL2 IL10 CD40LG CD4
48 tetanus 31.3 IL4 IL2 IL10 CD79A CD40LG CD27
49 dermatitis 31.3 IL4 IL2 IL10 CD4
50 sporotrichosis 31.3 IL10 CD79A CD40LG CD4

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:

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®:

57 (Updated 20-May-2021)
G I:
fulminant hepatitis
intrahepatic sclerosing cholangitis

susceptibility to both bacterial and viral infections
septicemia common

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

Clinical features from OMIM®:

242850 (Updated 20-May-2021)

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:

# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability after gemcitabine stimulation GR00107-A-2 8.8 ATM RIPK1 SYK

MGI Mouse Phenotypes related to Immune Deficiency Disease:

# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.28 ATM CD27 CD4 CD40LG CD79A GIMAP6
2 hematopoietic system MP:0005397 10.2 ATM CD27 CD4 CD40LG CD79A GIMAP6
3 homeostasis/metabolism MP:0005376 10.1 ATM CD4 CD40LG CD79A GIMAP6 IL10
4 endocrine/exocrine gland MP:0005379 10.07 ATM CD4 CD40LG IL10 IL2 IL4
5 immune system MP:0005387 10.03 ATM CD27 CD4 CD40LG CD79A GIMAP6
6 liver/biliary system MP:0005370 9.65 CD79A IL10 IL2 IL4 ITIH4 RAC2
7 no phenotypic analysis MP:0003012 9.23 CD4 CD79A IL10 IL2 IL4 MYH7

Drugs & Therapeutics for Immune Deficiency Disease

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

(show top 50) (show all 583)
# Name Status Phase Clinical Trials Cas Number PubChem Id
Morphine Approved, Investigational Phase 4 57-27-2 5288826
Methotrexate Approved Phase 4 1959-05-2, 59-05-2 126941
Levoleucovorin Approved, Investigational Phase 4 68538-85-2 149436
Aminosalicylic Acid Approved Phase 4 65-49-6 4649
Trimethoprim Approved, Vet_approved Phase 4 738-70-5 5578
Sulfamethoxazole Approved Phase 4 723-46-6 5329
Fluconazole Approved, Investigational Phase 4 86386-73-4 3365
Didanosine Approved Phase 4 69655-05-6 50599
Abacavir Approved, Investigational Phase 4 136470-78-5 65140 441300
Methadone Approved Phase 4 76-99-3 4095
Fosamprenavir Approved Phase 4 226700-79-4 131536
Velpatasvir Approved, Investigational Phase 4 1377049-84-7 67683363
Sorbitol Approved Phase 4 50-70-4 5780
Enfuvirtide Approved, Investigational Phase 4 159519-65-0 16130199
Guaifenesin Approved, Investigational, Vet_approved Phase 4 93-14-1 3516
Phenylpropanolamine Approved, Vet_approved, Withdrawn Phase 4 14838-15-4 26934
Rifaximin Approved, Investigational Phase 4 80621-81-4 6436173 46783403
Vincristine Approved, Investigational Phase 4 2068-78-2, 57-22-7 5978
Cytarabine Approved, Investigational Phase 4 147-94-4 6253
Hydrocortisone Approved, Vet_approved Phase 4 50-23-7 5754
Hydrocortisone acetate Approved, Vet_approved Phase 4 50-03-3
carbamide peroxide Approved Phase 4 124-43-6
Mupirocin Approved, Investigational, Vet_approved Phase 4 12650-69-0 446596
Rivastigmine Approved, Investigational Phase 4 123441-03-2 77991
Valganciclovir Approved, Investigational Phase 4 175865-60-8 64147
Dopamine Approved Phase 4 51-61-6, 62-31-7 681
Nicotine Approved Phase 4 54-11-5 942 89594
Azithromycin Approved Phase 4 83905-01-5 55185 447043
Methamphetamine Approved, Illicit Phase 4 537-46-2 10836
Nevirapine Approved Phase 4 129618-40-2 4463
Cobicistat Approved Phase 4 1004316-88-4
Rilpivirine Approved Phase 4 500287-72-9 6451164
Varenicline Approved, Investigational Phase 4 249296-44-4 5310966
Sulfamethazine Approved, Investigational, Vet_approved Phase 4 57-68-1 5327
Acetylcholine Approved, Investigational Phase 4 51-84-3 187
Lopinavir Approved Phase 4 192725-17-0 92727
Nicotinamide Approved, Investigational Phase 4 98-92-0 936
Exenatide Approved, Investigational Phase 4 141758-74-9 15991534
Folic acid Approved, Nutraceutical, Vet_approved Phase 4 59-30-3 6037
Aspartic acid Approved, Nutraceutical Phase 4 56-84-8 5960
Niacin Approved, Investigational, Nutraceutical Phase 4 59-67-6 938
42 Complement System Proteins Phase 4
43 Vitamin B9 Phase 4
44 Folic Acid Antagonists Phase 4
45 Immunosuppressive Agents Phase 4
46 Folate Phase 4
47 Neuroprotective Agents Phase 4
48 Vitamin B Complex Phase 4
49 Rho(D) Immune Globulin Phase 4
50 gamma-Globulins Phase 4

Interventional clinical trials:

(show top 50) (show all 2175)
# Name Status NCT ID Phase Drugs
1 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
2 Diagnostic Immunization With Rabies Vaccine in Patients With Primary Immunodeficiency Disorders Unknown status NCT02490956 Phase 4
3 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
4 A Prospective, Single Arm, Open-label 96 Week Observational Trial of the Tolerability, Adherence and Efficacy of a Dolutegravir/Abacavir/Lamivudine Single Tablet Regimen in HIV-1 Antibody Positive People Living With HIV With a History of Injection Drug Use Switching From Existing ART or Starting Treatment After Discontinuation of ART Unknown status NCT02659761 Phase 4 dolutegravir/abacavir/lamivudine
5 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
6 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)
7 Immune Reconstitution in Severely Immunosuppressed Antiretroviral-naive HIV-1-Infected Patients (<100 CD4+ T Cells/μL) Taking Antiretroviral Regimens Based on Dolutegravir or Ritonavir-boosted Darunavir (the Advanz-4 Trial). Unknown status NCT02337322 Phase 4 Dolutegravir;Darunavir/r
8 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
9 Normal Oxygenation Maintenance in Intensive Care Unit: Randomized Controlled Trial Unknown status NCT01319643 Phase 4 Oxygen
10 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
11 Adjusting Antiretroviral Therapy Dosage Using Therapeutic Drug Monitoring Unknown status NCT00836212 Phase 4 Reducing dose of Lopinavir;Reducing dose of efavirenz
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 Efficacy of Intrathecal Administration of Liposomal Amphotericin B in Cryptococcal Meningitis Without Acquired Immune Deficiency Syndrome Unknown status NCT02686853 Phase 4 Liposomal amphotericin B
14 Multicenter, Open, Pilot Clinical Trial Aimed to Compare the Efficacy of RAL1200 QD vs DRV-cb 800-150 QD Both in Combination With TAF/FTC in Patients With HIV Infection and CD4 Count Under 200 Cells/microL Unknown status NCT03842488 Phase 4 Experimental: RAL QD;Active comparator: DRV/cb
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 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
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 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
19 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
20 Post-Authorization Safety, Tolerability and Immunogenicity Evaluation of HyQvia in Pediatric Subjects With Primary Immunodeficiency Diseases Completed NCT03116347 Phase 4
21 Mesalamine to Reduce T Cell Activation in HIV Infection Completed NCT01090102 Phase 4 Mesalamine (5-aminosalicylic acid, Apriso);Placebo
22 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
23 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
24 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
25 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
26 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
27 A Multicenter Study on the Efficacy and Safety of Vivaglobin® in Previously Untreated Patients (PUPs) With Primary Immunodeficiency (PID) Completed NCT00520494 Phase 4 Vivaglobin
28 Safety of Cotrimoxazole in HIV- and HAART-exposed Infants in Botswana Completed NCT01086878 Phase 4 cotrimoxazole
29 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
30 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
31 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
32 Fluconazole Prophylaxis of Thrush in AIDS Completed NCT00001542 Phase 4 fluconazole
33 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
34 Generic Velpatasvir Plus Sofosbuvir With or Without Ribavirin for the Treatment of Hepatitis C Virus in Patients Coinfected With Human Immunodeficiency Virus Completed NCT03250910 Phase 4 Sofosbuvir and Velpatasvir;Ribavirin
35 An Open-Label Study to Evaluate the Safety, Tolerability and Pharmacokinetics of Etravirine (ETR) in Combination With Other Antiretrovirals (ARVs) in Antiretroviral Treatment-Experienced HIV-1 Infected Subjects Completed NCT01422330 Phase 4 Etravirine
36 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
37 The Effects of Statin Therapy on Coronary Flow Reserve and Inflammatory Markers in HIV-Positive Patients Completed NCT02234492 Phase 4 Rosuvastatin
38 A Randomised, Open-label, 96-week Study Comparing the Safety and Efficacy of Three Different Combination Antiretroviral Regimens as Initial Therapy for HIV Infection. 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)
39 Prospective Epidemiological Study of the Prevalence of HLAB*5701 in HIV-1 Infected Patients Completed NCT00441688 Phase 4 GI265235
40 Intervention of HIV, Drug Use and the Criminal Justice System in Malaysia Completed NCT02396979 Phase 4 Methadone
41 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
42 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
43 Long-term Safety of Subjects Continuing Dolutegravir After Participation in Clinical Studies of Dolutegravir in Russian Federation Completed NCT03314064 Phase 4 Dolutegravir 50 mg
44 Evaluating Performance, Impact, and Operational Challenges of GeneXpert Use for TB Case Finding Among HIV-infected Persons in Botswana During 2012-2013: The Xpert Package Rollout Evaluation Study (XPRES) Completed NCT02538952 Phase 4
45 A Pilot Study of Daily TDF/FTC-based PrEP Among High-risk Toronto MSM:The PREPARATORY-5 Study Completed NCT02149888 Phase 4 Tenofovir/emtricitabine
46 Immunogenicity and Safety of Trivalent Influenza Vaccine in Non-pregnant HIV- Infected Women: An Open Label Trial. Completed NCT01812980 Phase 4
47 Effects of Rifaximin, by Modulation of the Gut Microbiota, on Markers of Systemic Inflammation in Patients With Common Variable Immunodeficiency - An Exploratory Open-label Randomized Controlled Trial Completed NCT01946906 Phase 4 Rifaximin
48 Human Immunodeficiency Virus (HIV), Arterial Dysfunction, Lipids, Lovaza (HALO) Trial Completed NCT00795717 Phase 4 Lovaza;Placebo
49 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
50 Safety and Immunogenicity of Cervarix™ in Human Immunodeficiency Virus Infected Females Completed NCT01031069 Phase 4

Search NIH Clinical Center for Immune Deficiency Disease

Inferred drug relations via UMLS 70 / NDF-RT 51 :

Intramuscular immunoglobulin
varicella-zoster immune globulin

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:

T Cells, Bone, Liver, Bone Marrow, Brain, Lung, Skin

Publications for Immune Deficiency Disease

Articles related to Immune Deficiency Disease:

(show top 50) (show all 32653)
# Title Authors PMID Year
V(D)J recombination defects in lymphocytes due to RAG mutations: severe immunodeficiency with a spectrum of clinical presentations. 61 54 6
11133745 2001
Human RIPK1 deficiency causes combined immunodeficiency and inflammatory bowel diseases. 6 61
30591564 2019
An immunodeficiency disease with RAG mutations and granulomas. 61 6
18463379 2008
Detection of RAG mutations and prenatal diagnosis in families presenting with either T-B- severe combined immunodeficiency or Omenn's syndrome. 6 61
15025726 2004
Mutations in conserved regions of the predicted RAG2 kelch repeats block initiation of V(D)J recombination and result in primary immunodeficiencies. 6 54
10891502 2000
Broad-spectrum antibodies against self-antigens and cytokines in RAG deficiency. 6
26457731 2015
A novel homozygous mutation in recombination activating gene 2 in 2 relatives with different clinical phenotypes: Omenn syndrome and hyper-IgM syndrome. 6
22841008 2012
Characterizing T cells in SCID patients presenting with reactive or residual T lymphocytes. 6
23243423 2012
Novel mutations in RAG1/2 and ADA genes in Israeli patients presenting with T-B-SCID or Omenn syndrome. 6
21624848 2011
Analysis of mutations and recombination activity in RAG-deficient patients. 6
21131235 2011
Omenn syndrome due to mutation of the RAG2 gene. 6
19470080 2009
RAG-dependent primary immunodeficiencies. 6
16960852 2006
The immunophenotypic and immunogenotypic B-cell differentiation arrest in bone marrow of RAG-deficient SCID patients corresponds to residual recombination activities of mutated RAG proteins. 6
12200379 2002
Identical mutations in RAG1 or RAG2 genes leading to defective V(D)J recombinase activity can cause either T-B-severe combined immune deficiency or Omenn syndrome. 6
11313270 2001
Intrahepatic sclerosing cholangitis associated with a familial immunodeficiency syndrome. 57
4123291 1973
Fitness epistasis and constraints on adaptation in a human immunodeficiency virus type 1 protein region. 54 61
20157005 2010
High viremia is associated with high levels of in vivo major histocompatibility complex class I Downregulation in rhesus macaques infected with simian immunodeficiency virus SIVmac239. 61 54
20219903 2010
Plasmodium falciparum dihydrofolate reductase and dihyropteroate synthase mutations and the use of trimethoprim-sulfamethoxazole prophylaxis among persons infected with human immunodeficiency virus. 61 54
20439953 2010
Subcellular localization of the interaction between the human immunodeficiency virus transactivator Tat and the nucleosome assembly protein 1. 54 61
19888548 2010
Persistence of CCR5 usage among primary human immunodeficiency virus isolates of individuals receiving intermittent interleukin-2. 61 54
20015219 2010
Antagonism of CD317 restriction of human immunodeficiency virus type 1 (HIV-1) particle release and depletion of CD317 are separable activities of HIV-1 Vpu. 61 54
20147395 2010
Cytoskeletal proteins bound to heat-shock protein 70 may elicit resistance to simian immunodeficiency virus infection of CD4(+) T cells. 61 54
20002211 2010
A V3 loop-dependent gp120 element disrupted by CD4 binding stabilizes the human immunodeficiency virus envelope glycoprotein trimer. 54 61
20089638 2010
In-solution virus capture assay helps deconstruct heterogeneous antibody recognition of human immunodeficiency virus type 1. 61 54
20089658 2010
Induction of monocyte chemoattractant protein-1 (MCP-1/CCL2) gene expression by human immunodeficiency virus-1 Tat in human astrocytes is CDK9 dependent. 61 54
20370601 2010
Feline programmed death and its ligand: characterization and changes with feline immunodeficiency virus infection. 61 54
19931185 2010
Temporal association of large granular lymphocytosis, neutropenia, proviral load, and FasL mRNA in cats with acute feline immunodeficiency virus infection. 54 61
19896217 2010
Two siblings with immunodeficiency, facial abnormalities and chromosomal instability without mutation in DNMT3B gene but liability towards malignancy; a new chromatin disorder delineation? 61 54
20211012 2010
Computational methods for de novo protein design and its applications to the human immunodeficiency virus 1, purine nucleoside phosphorylase, ubiquitin specific protease 7, and histone demethylases. 61 54
20210752 2010
Genetics of focal segmental glomerulosclerosis and human immunodeficiency virus-associated collapsing glomerulopathy: the role of MYH9 genetic variation. 61 54
20347641 2010
Blood soluble human leukocyte antigen G levels are associated with human immunodeficiency virus type 1 infection in Beninese commercial sex workers. 54 61
19913587 2010
Tuberculosis in children with congenital immunodeficiency syndromes. 61 54
20517730 2010
Dual mechanism of impairment of interleukin-7 (IL-7) responses in human immunodeficiency virus infection: decreased IL-7 binding and abnormal activation of the JAK/STAT5 pathway. 54 61
19864382 2010
Enhanced PD-1 expression by T cells in cerebrospinal fluid does not reflect functional exhaustion during chronic human immunodeficiency virus type 1 infection. 54 61
19828602 2010
New insights into the pathogenesis of adenosine deaminase-severe combined immunodeficiency and progress in gene therapy. 54 61
19779332 2009
Generation of a human immunodeficiency virus type 1 chronically infected monkey B cell line expressing low levels of endogenous TRIM5alpha. 61 54
19746418 2009
Construction and characterization of a new simian/human immunodeficiency viruses clone carrying an env gene derived from a CRF07_BC strain. 54 61
20092794 2009
Functional analysis and structural modeling of human APOBEC3G reveal the role of evolutionarily conserved elements in the inhibition of human immunodeficiency virus type 1 infection and Alu transposition. 54 61
19776130 2009
Adult AIDS-like disease in a novel inducible human immunodeficiency virus type 1 Nef transgenic mouse model: CD4+ T-cell activation is Nef dependent and can occur in the absence of lymphophenia. 61 54
19740990 2009
Induction of granulysin in CD8+ T cells by IL-21 and IL-15 is suppressed by human immunodeficiency virus-1. 54 61
19687290 2009
LFA-1 antagonists as agents limiting human immunodeficiency virus type 1 infection and transmission and potentiating the effect of the fusion inhibitor T-20. 61 54
19721069 2009
Behavior of non-classical soluble HLA class G antigens in human immunodeficiency virus 1-infected patients before and after HAART: comparison with classical soluble HLA-A, -B, -C antigens and potential role in immune-reconstitution. 54 61
19762282 2009
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
Combined immunodeficiency associated with DOCK8 mutations. 54 61
19776401 2009
Human immunodeficiency virus type 1 (HIV-1) induces the cytoplasmic retention of heterogeneous nuclear ribonucleoprotein A1 by disrupting nuclear import: implications for HIV-1 gene expression. 61 54
19737937 2009
Integrase interactor 1 (Ini1/hSNF5) is a repressor of basal human immunodeficiency virus type 1 promoter activity. 61 54
19515827 2009
Longitudinal analysis of raltegravir susceptibility and integrase replication capacity of human immunodeficiency virus type 1 during virologic failure. 54 61
19667293 2009
Partial inhibition of human immunodeficiency virus replication by type I interferons: impact of cell-to-cell viral transfer. 61 54
19706714 2009
Selective expression of human immunodeficiency virus Nef in specific immune cell populations of transgenic mice is associated with distinct AIDS-like phenotypes. 61 54
19605470 2009
ADAR1 interacts with PKR during human immunodeficiency virus infection of lymphocytes and contributes to viral replication. 61 54
19605474 2009

Variations for Immune Deficiency Disease

ClinVar genetic disease variations for Immune Deficiency Disease:

6 (show top 50) (show all 221)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 SYK NM_003177.7(SYK):c.1649C>T (p.Ser550Phe) SNV Pathogenic 989386 GRCh37: 9:93650098-93650098
GRCh38: 9:90887816-90887816
2 MR1 NM_001385161.1(MR1):c.92G>A (p.Arg31His) SNV Pathogenic 996147 rs41268456 GRCh37: 1:181018212-181018212
GRCh38: 1:181049076-181049076
3 ATM NM_000051.3(ATM):c.689del (p.Asn230fs) Deletion Pathogenic 374194 rs1057518965 GRCh37: 11:108115539-108115539
GRCh38: 11:108244812-108244812
4 RAG2 NM_000536.4(RAG2):c.539C>A (p.Pro180His) SNV Pathogenic 418453 rs1064793251 GRCh37: 11:36615180-36615180
GRCh38: 11:36593630-36593630
5 RIPK1 NM_001354930.2(RIPK1):c.1844T>C (p.Ile615Thr) SNV Pathogenic 598787 rs752183065 GRCh37: 6:3113401-3113401
GRCh38: 6:3113167-3113167
6 RIPK1 NM_001354930.2(RIPK1):c.1934C>T (p.Thr645Met) SNV Pathogenic 598788 rs116040763 GRCh37: 6:3113491-3113491
GRCh38: 6:3113257-3113257
7 RIPK1 NM_001354930.2(RIPK1):c.1278C>A (p.Tyr426Ter) SNV Pathogenic 598789 rs374657927 GRCh37: 6:3105987-3105987
GRCh38: 6:3105753-3105753
8 RIPK1 NM_001354930.2(RIPK1):c.954del (p.Met318fs) Deletion Pathogenic 598790 rs1561772403 GRCh37: 6:3104497-3104497
GRCh38: 6:3104263-3104263
9 RIPK1 NM_001354930.2(RIPK1):c.1802G>A (p.Cys601Tyr) SNV Pathogenic 598791 rs1561780980 GRCh37: 6:3113359-3113359
GRCh38: 6:3113125-3113125
10 CD27-AS1 , CD27 NM_001242.4(CD27):c.250dup (p.Cys84fs) Duplication Pathogenic 827694 rs1592117677 GRCh37: 12:6554702-6554703
GRCh38: 12:6445536-6445537
11 CD27-AS1 , CD27 NM_001242.4(CD27):c.319C>T (p.Arg107Cys) SNV Pathogenic 827695 rs371761387 GRCh37: 12:6559389-6559389
GRCh38: 12:6450223-6450223
12 SYK NM_003177.7(SYK):c.1649C>A (p.Ser550Tyr) SNV Pathogenic 989389 GRCh37: 9:93650098-93650098
GRCh38: 9:90887816-90887816
13 COPB1 NM_001144061.2(COPB1):c.1651T>G (p.Phe551Val) SNV Likely pathogenic 996037 GRCh37: 11:14496127-14496127
GRCh38: 11:14474581-14474581
14 MYOC NM_000261.2(MYOC):c.1102C>T (p.Gln368Ter) SNV Likely pathogenic 7949 rs74315329 GRCh37: 1:171605478-171605478
GRCh38: 1:171636338-171636338
15 RAC2 NM_002872.5(RAC2):c.184G>A (p.Glu62Lys) SNV Likely pathogenic 464885 rs1555908409 GRCh37: 22:37628882-37628882
GRCh38: 22:37232842-37232842
16 SYK NM_003177.7(SYK):c.1350G>A (p.Met450Ile) SNV Likely pathogenic 989237 GRCh37: 9:93640021-93640021
GRCh38: 9:90877739-90877739
17 SYK NM_003177.7(SYK):c.1024C>A (p.Pro342Thr) SNV Likely pathogenic 989387 GRCh37: 9:93636974-93636974
GRCh38: 9:90874692-90874692
18 MYH7 NM_000257.4(MYH7):c.2389G>A (p.Ala797Thr) SNV Likely pathogenic 42901 rs3218716 GRCh37: 14:23894525-23894525
GRCh38: 14:23425316-23425316
19 SLC37A4 NM_001164278.2(SLC37A4):c.81T>A (p.Asn27Lys) SNV Likely pathogenic 68290 rs193302889 GRCh37: 11:118899999-118899999
GRCh38: 11:119029289-119029289
20 RAG2 NM_000536.4(RAG2):c.470G>T (p.Gly157Val) SNV Likely pathogenic 496622 rs1564997121 GRCh37: 11:36615249-36615249
GRCh38: 11:36593699-36593699
21 RAG2 NM_000536.4(RAG2):c.854T>G (p.Met285Arg) SNV Likely pathogenic 13132 rs121917896 GRCh37: 11:36614865-36614865
GRCh38: 11:36593315-36593315
22 RAG2 NM_000536.4(RAG2):c.1320A>C (p.Lys440Asn) SNV Likely pathogenic 496626 rs754413772 GRCh37: 11:36614399-36614399
GRCh38: 11:36592849-36592849
23 RAG2 NM_000536.4(RAG2):c.1329G>T (p.Met443Ile) SNV Likely pathogenic 496627 rs773710101 GRCh37: 11:36614390-36614390
GRCh38: 11:36592840-36592840
24 RAG2 NM_000536.4(RAG2):c.1357T>A (p.Trp453Arg) SNV Likely pathogenic 496630 rs1564995627 GRCh37: 11:36614362-36614362
GRCh38: 11:36592812-36592812
25 RAG2 NM_000536.4(RAG2):c.1366G>A (p.Ala456Thr) SNV Likely pathogenic 496631 rs1564995611 GRCh37: 11:36614353-36614353
GRCh38: 11:36592803-36592803
26 RAG2 NM_000536.4(RAG2):c.1375A>C (p.Met459Leu) SNV Likely pathogenic 496632 rs1204766339 GRCh37: 11:36614344-36614344
GRCh38: 11:36592794-36592794
27 RAG2 NM_000536.4(RAG2):c.1338C>G (p.Cys446Trp) SNV Likely pathogenic 496629 rs1564995660 GRCh37: 11:36614381-36614381
GRCh38: 11:36592831-36592831
28 RAG2 NM_000536.4(RAG2):c.583T>G (p.Tyr195Asp) SNV Likely pathogenic 496623 rs1479328926 GRCh37: 11:36615136-36615136
GRCh38: 11:36593586-36593586
29 RAG2 NM_000536.4(RAG2):c.2T>C (p.Met1Thr) SNV Likely pathogenic 488726 rs1554947410 GRCh37: 11:36615717-36615717
GRCh38: 11:36594167-36594167
30 RAG2 NM_000536.4(RAG2):c.104G>T (p.Gly35Val) SNV Likely pathogenic 496618 rs148508754 GRCh37: 11:36615615-36615615
GRCh38: 11:36594065-36594065
31 RAG2 NM_000536.4(RAG2):c.115A>G (p.Arg39Gly) SNV Likely pathogenic 13136 rs121917897 GRCh37: 11:36615604-36615604
GRCh38: 11:36594054-36594054
32 RAG2 NM_000536.4(RAG2):c.123C>G (p.Cys41Trp) SNV Likely pathogenic 13131 rs121917895 GRCh37: 11:36615596-36615596
GRCh38: 11:36594046-36594046
33 RAG2 NM_000536.4(RAG2):c.186C>A (p.Phe62Leu) SNV Likely pathogenic 496619 rs1564997563 GRCh37: 11:36615533-36615533
GRCh38: 11:36593983-36593983
34 RAG2 NM_000536.4(RAG2):c.193G>T (p.Asp65Tyr) SNV Likely pathogenic 427020 rs909264507 GRCh37: 11:36615526-36615526
GRCh38: 11:36593976-36593976
35 RAG2 NM_000536.4(RAG2):c.218G>A (p.Arg73His) SNV Likely pathogenic 496620 rs762407838 GRCh37: 11:36615501-36615501
GRCh38: 11:36593951-36593951
36 RAG2 NM_000536.4(RAG2):c.230C>A (p.Thr77Asn) SNV Likely pathogenic 13137