NEMOID
MCID: IMM036
MIFTS: 27

Immunodeficiency, Isolated (NEMOID) malady

Categories: Genetic diseases, Rare diseases, Immune diseases

Aliases & Classifications for Immunodeficiency, Isolated

Aliases & Descriptions for Immunodeficiency, Isolated:

Name: Immunodeficiency, Isolated 54 50 13
Immunodeficiency Without Anhidrotic Ectodermal Dysplasia 50 24 66 29 69
Immunodeficiency, Nemo-Related, Without Anhidrotic Ectodermal Dysplasia 66
X-Linked Pure Immunodeficiency 66
Isolated Immunodeficiency 66
Immunodeficiency, Pure 50
Pure Immunodeficiency 66
Nemoid 66

Characteristics:

HPO:

32
immunodeficiency, isolated:
Inheritance x-linked recessive inheritance


Classifications:



External Ids:

OMIM 54 300584
MedGen 40 C1845117
MeSH 42 D007153

Summaries for Immunodeficiency, Isolated

UniProtKB/Swiss-Prot : 66 Immunodeficiency, NEMO-related, without anhidrotic ectodermal dysplasia: Patients manifest immunodeficiency not associated with other abnormalities, and resulting in increased susceptibility to infections. Patients suffer from multiple episodes of infectious diseases.

MalaCards based summary : Immunodeficiency, Isolated, also known as immunodeficiency without anhidrotic ectodermal dysplasia, is related to pure red-cell aplasia and common variable immunodeficiency, and has symptoms including immunodeficiency, iga deficiency and igg deficiency. An important gene associated with Immunodeficiency, Isolated is IKBKG (Inhibitor Of Nuclear Factor Kappa B Kinase Subunit Gamma). The drugs Sulfamethoxazole and Trimethoprim have been mentioned in the context of this disorder. Affiliated tissues include b cells.

Description from OMIM: 300584

Related Diseases for Immunodeficiency, Isolated

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

id Related Disease Score Top Affiliating Genes
1 pure red-cell aplasia 9.5
2 common variable immunodeficiency 9.4
3 hepatitis 9.4

Symptoms & Phenotypes for Immunodeficiency, Isolated

Clinical features from OMIM:

300584

Human phenotypes related to Immunodeficiency, Isolated:

32 (show all 6)
id Description HPO Frequency HPO Source Accession
1 immunodeficiency 32 HP:0002721
2 iga deficiency 32 HP:0002720
3 igg deficiency 32 HP:0004315
4 increased igm level 32 HP:0003496
5 impaired memory b-cell generation 32 HP:0002847
6 recurrent mycobacterium avium complex infections 32 HP:0011275

Drugs & Therapeutics for Immunodeficiency, Isolated

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

(show top 50) (show all 94)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Sulfamethoxazole Approved Phase 4,Phase 3 723-46-6 5329
2
Trimethoprim Approved, Vet_approved Phase 4,Phase 3 738-70-5 5578
3
Ritonavir Approved, Investigational Phase 4 155213-67-5 392622
4
Tipranavir Approved, Investigational Phase 4 174484-41-4 65027
5
Abacavir Approved, Investigational Phase 4 136470-78-5 65140 441300
6
Cobicistat Approved Phase 4 1004316-88-4
7 Dolutegravir Approved Phase 4 1051375-16-6 54726191
8
Emtricitabine Approved, Investigational Phase 4 143491-57-0 60877
9
Lamivudine Approved, Investigational Phase 4 134678-17-4 60825
10
Tenofovir Approved, Investigational Phase 4 147127-20-6 464205
11
Folic Acid Approved, Nutraceutical, Vet_approved Phase 4,Phase 3 59-30-3 6037
12
leucovorin Approved, Nutraceutical Phase 4,Phase 3 58-05-9 54575, 6560146 143
13 Anti-Bacterial Agents Phase 4,Phase 3,Phase 1,Early Phase 1
14 Anti-Infective Agents Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1
15 Antimalarials Phase 4,Phase 3
16 Antiparasitic Agents Phase 4,Phase 3
17 Antiprotozoal Agents Phase 4,Phase 3
18 Renal Agents Phase 4,Phase 3
19 Trimethoprim, Sulfamethoxazole Drug Combination Phase 4,Phase 3
20 Vitamin B Complex Phase 4,Phase 3
21 Antibiotics, Antitubercular Phase 4,Phase 1,Early Phase 1
22 Antibodies Phase 4,Phase 1,Early Phase 1
23 Antitubercular Agents Phase 4
24 gamma-Globulins Phase 4
25 Immunoglobulins Phase 4,Phase 1,Early Phase 1
26 Immunoglobulins, Intravenous Phase 4
27 Rho(D) Immune Globulin Phase 4
28 Anti-HIV Agents Phase 4,Phase 2,Phase 1
29 Anti-Retroviral Agents Phase 4,Phase 2,Phase 1
30 Antiviral Agents Phase 4,Phase 2,Phase 1
31 Cytochrome P-450 CYP3A Inhibitors Phase 4
32 Cytochrome P-450 Enzyme Inhibitors Phase 4
33 HIV Protease Inhibitors Phase 4
34
protease inhibitors Phase 4
35 Nucleic Acid Synthesis Inhibitors Phase 4,Phase 2,Phase 1
36 Reverse Transcriptase Inhibitors Phase 4,Phase 2,Phase 1
37 Emtricitabine, Tenofovir Disoproxil Fumarate Drug Combination Phase 4
38 HIV Integrase Inhibitors Phase 4
39 Integrase Inhibitors Phase 4
40 Folate Nutraceutical Phase 4,Phase 3
41 Vitamin B9 Nutraceutical Phase 4,Phase 3
42
Pyrimethamine Approved, Vet_approved Phase 3 58-14-0 4993
43
Sulfadoxine Approved Phase 3 2447-57-6 17134
44 Fanasil, pyrimethamine drug combination Phase 3
45 Folic Acid Antagonists Phase 3
46 Aluminum phosphate Phase 3
47 Heptavalent Pneumococcal Conjugate Vaccine Phase 3
48 Vaccines Phase 3,Phase 2,Phase 1
49
Adenosine Approved, Investigational Phase 2,Phase 1 58-61-7 60961
50
Busulfan Approved, Investigational Phase 2,Phase 1 55-98-1 2478

Interventional clinical trials:

(show all 42)
id Name Status NCT ID Phase
1 Treatment of Deficient Subclass or Anti-polysaccharide Antibody Response Completed NCT00522821 Phase 4
2 Clinical Trial to Assess the Security of the Dose Reduction of Ritonavir in HIV-Infected Patients in Treatment With Tipranavir/Ritonavir 500/200 mg Every 12 Hours Completed NCT00607958 Phase 4
3 A Phase IV, Open-label, Randomised, Pilot Clinical Trial Designed to Evaluate the Potential Neurotoxicity of Dolutegravir/Lamivudine/Abacavir in Neurosymptomatic HIV Patients and Its Reversibility After Switching to Elvitegravir/Cobicistat/Emtricitabine/T Not yet recruiting NCT03067285 Phase 4
4 Efficacy of Antifolates Against Malaria in HIV-infected Pregnant Women and the Emergence of Induced Resistance in Plasmodium Falciparum Unknown status NCT01746199 Phase 3
5 Serological Response to Antipneumococcal Vaccination and Impact on Streptococcus Pneumoniae Nasal Carriage in HIV Adults Completed NCT02123433 Phase 3
6 MND-ADA Transduction of CD34+ Cells From Children With ADA-SCID Completed NCT00794508 Phase 2
7 A Study of Dideoxyinosine (ddI) in HIV-Infected Children Who Have Not Had Success With Zidovudine or Who Cannot Take Zidovudine Completed NCT00000963 Phase 2
8 Dideoxycytidine ( Ro 24-2027 ) A Randomized, Open-Label, Comparative Study of Dideoxycytidine ( ddC ) Versus Zidovudine ( AZT ) in Patients With AIDS or Advanced ARC Who Have Received Long-Term AZT Therapy. Completed NCT00000678 Phase 2
9 A Phase Il of a Therapeutic, Recombinant, Biologically Active HIV-1 Tat Protein Vaccine in HIV-Infected, Anti-Tat Negative, ARV-Treated Adult Volunteers Completed NCT01513135 Phase 2
10 Gene Transfer for X-Linked Severe Combined Immunodeficiency in Newly Diagnosed Infants Recruiting NCT01512888 Phase 1, Phase 2
11 SCID Bu/Flu/ATG Study With T Cell Depletion Enrolling by invitation NCT02127892 Phase 1, Phase 2
12 Treatment of SCID Due to ADA Deficiency With Autologous Transplantation of Cord Blood or Hematopoietic CD 34+ Cells After Addition of a Normal Human ADA cDNA by the EFS-ADA Lentiviral Vector Completed NCT02022696 Phase 1
13 Unrelated Umbilical Cord Blood Transplantation Augmented With ALDHbr Umbilical Cord Blood Cells Completed NCT00692926 Phase 1
14 Sunitinib Malate in Treating HIV-Positive Patients With Cancer Receiving Antiretroviral Therapy Completed NCT00890747 Phase 1
15 Evaluation of the Safety and Tolerance of Immunotherapy With Autologous, Ex-Vivo Expanded, HIV-Specific Cytotoxic T-Cells in HIV-Infected Patients With CD4+ Counts Between 100-400/mm3 Completed NCT00000756 Phase 1
16 A Study of Dideoxycytidine Plus Zidovudine in the Treatment of AIDS or Advanced AIDS Related Complex (ARC) Completed NCT00000978 Phase 1
17 A Phase I Safety and Immunogenicity Trial of UBI Multivalent HIV-1 Peptide Immunogen in HIV-1 Seronegative Human Subjects Completed NCT00000795 Phase 1
18 Safety and Effectiveness of Immunotherapy With Autologous HIV-Specific CD8 Cells in HIV Infected Adults Completed NCT00110578 Phase 1
19 Safety and Effectiveness of the Vaccine ALVAC-HIV vCP205 in HIV-Negative Adult Volunteers in Uganda Completed NCT00007423 Phase 1
20 Detection of Human Immunodeficiency Virus Type 1 (HIV-1) in Vaginocervical Secretions: Correlation With Clinical Status, Virologic and Immunologic Parameters, and the Presence of Other Infections Completed NCT00000858
21 Fludarabine and Total-Body Irradiation Followed By Donor Stem Cell Transplant and Cyclosporine and Mycophenolate Mofetil in Treating HIV-Positive Patients With or Without Cancer Completed NCT00112593
22 Double Blind Study of Thymopentin Effects on Patients With HIV-1 Infection Completed NCT00002066
23 Double Blind Study of Thymopentin Effects on Patients With HIV-1 Infection Completed NCT00002051
24 Role of Pseudogene in Incontinentia Pigmenti, and Its Potential Treatment Completed NCT00976586
25 Point Prevalence Study of Multidrug-Resistant Organism Carriage by Healthcare Personnel Completed NCT01952158
26 Analysis of Genetic Factors Which May Influence the Course of HIV Infection Completed NCT00159068
27 Isolated Anti-HBc Serological Profile in HIV Infected Patients: Immunological, Virological Characteristics and Response to Hepatitis B Vaccination Completed NCT02323308
28 Viral Biofilms: Hijacking T Cell Extracellular Matrix to Regulate HIV-1 Spread? Completed NCT01895920
29 The Effects of Thymopentin on HIV Infectivity of Blood Cells and Semen in HIV-Infected Patients Completed NCT00002289
30 A Study of Thymopentin Effects on HIV-1 Infectivity of Blood Mononuclear Cells and Semen in HIV Infected Patients Completed NCT00002050
31 Double Blind Study of Thymopentin Effects on HIV-1 Infectivity of Blood Mononuclear Cells and Semen in HIV Infected Patients Completed NCT00002049
32 Text Messaging Intervention to Improve HIV Adherence in Rural Drug Users Completed NCT01343654
33 Assessment of the Effectiveness of New Clinical Guidelines for Differential Diagnosis and Management of Common HIV/AIDS-related Conditions in Mozambique Completed NCT01681914
34 HIV Resistance and Treatment Strategies Completed NCT00581802
35 Factors Mediating Gut Microbiota Dysbiosis and Metabolic Disease in HIV Patients. Recruiting NCT02258685
36 Molecular Typing of Community-acquired Pneumonia Based on Multiple-omic Data Analysis Recruiting NCT03093220
37 Invasive Group A Streptococcus (GAS) Infection in Children: Bacterial Virulence Factors and Detection of Host Immunological and/or Genetic Factors of Predisposition to Infections Recruiting NCT02010294
38 Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford Recruiting NCT01793168
39 Connecting Youth and Young Adults to Optimize ART Adherence: YouTHrive Efficacy Trial Recruiting NCT03149757
40 Music for Health Project Active, not recruiting NCT01786148
41 Personalized Immunotherapeutic for Antibiotic-resistant Infection Enrolling by invitation NCT02508584 Early Phase 1
42 Natural Killer (NK) Cells Following Bariatric Surgery Enrolling by invitation NCT02732535

Search NIH Clinical Center for Immunodeficiency, Isolated

Genetic Tests for Immunodeficiency, Isolated

Genetic tests related to Immunodeficiency, Isolated:

id Genetic test Affiliating Genes
1 Immunodeficiency Without Anhidrotic Ectodermal Dysplasia 29 24 IKBKG

Anatomical Context for Immunodeficiency, Isolated

MalaCards organs/tissues related to Immunodeficiency, Isolated:

39
B Cells

Publications for Immunodeficiency, Isolated

Variations for Immunodeficiency, Isolated

UniProtKB/Swiss-Prot genetic disease variations for Immunodeficiency, Isolated:

66
id Symbol AA change Variation ID SNP ID
1 IKBKG p.Cys417Tyr VAR_026496 rs137853326

ClinVar genetic disease variations for Immunodeficiency, Isolated:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 IKBKG IKBKG, IVS8, -1, G-A single nucleotide variant Pathogenic
2 IKBKG IKBKG, 1-BP INS, 110C insertion Pathogenic

Expression for Immunodeficiency, Isolated

Search GEO for disease gene expression data for Immunodeficiency, Isolated.

Pathways for Immunodeficiency, Isolated

GO Terms for Immunodeficiency, Isolated

Sources for Immunodeficiency, Isolated

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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