MCID: IMM135
MIFTS: 23

Immunodeficiency 46

Categories: Genetic diseases, Blood diseases, Rare diseases, Immune diseases

Aliases & Classifications for Immunodeficiency 46

MalaCards integrated aliases for Immunodeficiency 46:

Name: Immunodeficiency 46 54 71
Tfrc-Related Combined Immunodeficiency 56
Imd46 71

Characteristics:

OMIM:

54
Inheritance:
autosomal recessive

Miscellaneous:
onset in early childhood
early death may occur
two unrelated families have been reported (last curated january 2016)


HPO:

32
immunodeficiency 46:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 56  
Rare immunological diseases


Summaries for Immunodeficiency 46

UniProtKB/Swiss-Prot : 71 Immunodeficiency 46: An autosomal recessive primary immunodeficiency disorder characterized by early-onset chronic diarrhea, recurrent infections, hypo- or agammaglobulinemia, normal lymphocyte counts, intermittent neutropenia, and intermittent thrombocytopenia.

MalaCards based summary : Immunodeficiency 46, is also known as tfrc-related combined immunodeficiency, and has symptoms including failure to thrive, neutropenia and anemia. An important gene associated with Immunodeficiency 46 is TFRC (Transferrin Receptor). The drugs Allopurinol and Bleomycin have been mentioned in the context of this disorder. Affiliated tissues include t cells and b cells.

Description from OMIM: 616740

Related Diseases for Immunodeficiency 46

Symptoms & Phenotypes for Immunodeficiency 46

Symptoms via clinical synopsis from OMIM:

54

Immunology:
recurrent infections
decreased numbers of memory b cells
hypogammaglobulinemia
primary combined immunodeficiency
defective immunoglobulin class switching
more
Hematology:
anemia, mild
thrombocytopenia, intermittent


Clinical features from OMIM:

616740

Human phenotypes related to Immunodeficiency 46:

32 (show all 11)
id Description HPO Frequency HPO Source Accession
1 failure to thrive 32 very rare (1%) HP:0001508
2 neutropenia 32 HP:0001875
3 anemia 32 very rare (1%) HP:0001903
4 conjunctivitis 32 very rare (1%) HP:0000509
5 recurrent sinopulmonary infections 32 very rare (1%) HP:0005425
6 chronic diarrhea 32 very rare (1%) HP:0002028
7 sepsis 32 very rare (1%) HP:0100806
8 meningitis 32 very rare (1%) HP:0001287
9 intermittent thrombocytopenia 32 very rare (1%) HP:0004854
10 decreased antibody level in blood 32 HP:0004313
11 chronic oral candidiasis 32 very rare (1%) HP:0009098

Drugs & Therapeutics for Immunodeficiency 46

Drugs for Immunodeficiency 46 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 96)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Allopurinol Approved Phase 3 315-30-0 2094
2
Bleomycin Approved Phase 3 11056-06-7 5360373
3
Cyclophosphamide Approved, Investigational Phase 3 50-18-0, 6055-19-2 2907
4
Cytarabine Approved, Investigational Phase 3 147-94-4 6253
5
Dexamethasone Approved, Investigational, Vet_approved Phase 3 50-02-2 5743
6
Doxorubicin Approved, Investigational Phase 3 23214-92-8 31703
7
Levoleucovorin Approved Phase 3 68538-85-2
8
Methotrexate Approved Phase 3 1959-05-2, 59-05-2 126941
9
Vincristine Approved, Investigational Phase 3 2068-78-2, 57-22-7 5978
10
Ritonavir Approved, Investigational Phase 2, Phase 3, Phase 1 155213-67-5 392622
11
Tipranavir Approved, Investigational Phase 2, Phase 3 174484-41-4 65027
12
Lamivudine Approved, Investigational Phase 3,Phase 2 134678-17-4 60825
13
Lopinavir Approved Phase 3 192725-17-0 92727
14 Dolutegravir Approved Phase 3 1051375-16-6 54726191
15
Efavirenz Approved, Investigational Phase 3 154598-52-4 64139
16
Ethambutol Approved Phase 3 74-55-5 3279 14052
17
Isoniazid Approved Phase 3 54-85-3 3767
18
Pyrazinamide Approved Phase 3 98-96-4 1046
19
Rifampin Approved Phase 3 13292-46-1 5458213 5381226
20
Folic Acid Approved, Nutraceutical, Vet_approved Phase 3 59-30-3 6037
21
leucovorin Approved, Nutraceutical Phase 3 58-05-9 143 6006
22
Doxil Approved June 1999 Phase 3 31703
23 Alkylating Agents Phase 3,Phase 1,Phase 2
24 Anti-Bacterial Agents Phase 3
25 Antibiotics, Antitubercular Phase 3
26 Antidotes Phase 3
27 Antiemetics Phase 3
28 Anti-Infective Agents Phase 3,Phase 2,Phase 1
29 Anti-Inflammatory Agents Phase 3,Phase 1
30 Antimetabolites Phase 3,Phase 2
31 Antimetabolites, Antineoplastic Phase 3
32 Antimitotic Agents Phase 3
33 Antineoplastic Agents, Hormonal Phase 3
34 Antineoplastic Agents, Phytogenic Phase 3
35 Antioxidants Phase 3
36 Antirheumatic Agents Phase 3
37 Antiviral Agents Phase 3,Phase 2,Phase 1
38 Autonomic Agents Phase 3
39 BB 1101 Phase 3
40 Calcium, Dietary Phase 3
41 Dermatologic Agents Phase 3
42 Dexamethasone acetate Phase 3 1177-87-3
43 Folic Acid Antagonists Phase 3
44 Gastrointestinal Agents Phase 3
45 glucocorticoids Phase 3,Phase 1
46 Hormone Antagonists Phase 3,Phase 1
47 Hormones Phase 3,Phase 1
48 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 3,Phase 1
49 Immunosuppressive Agents Phase 3,Phase 1,Phase 2
50 Nucleic Acid Synthesis Inhibitors Phase 3,Phase 2

Interventional clinical trials:

(show all 20)

id Name Status NCT ID Phase Drugs
1 A Phase III Randomized Trial of Low-Dose Versus Standard-Dose mBACOD Chemotherapy With rGM-CSF for Treatment of AIDS-Associated Non-Hodgkin's Lymphoma Completed NCT00000658 Phase 3 Bleomycin sulfate;Vincristine sulfate;Doxorubicin hydrochloride;Cyclophosphamide;Allopurinol;Methotrexate;Cytarabine;Leucovorin calcium;Sargramostim;Dexamethasone
2 Rollover Trial Safety and Tolerability of Combination Tipranavir and Ritonavir Use in HIV 1 Infected Subjects Completed NCT00146328 Phase 2, Phase 3 Tipranavir
3 Randomized Evaluation of Strategic Intervention in Multidrug Resistant Patients With Tipranavir (RESIST) Completed NCT00054717 Phase 3 Tipranavir;Ritonavir(r);Comparator Protease Inhibitor (CPI)
4 Comparison of Efficacy and Safety of Infant Peri-exposure Prophylaxis With Lopinavir/Ritonavir Versus Lamivudine to Prevent HIV-1 Transmission by Breastfeeding Completed NCT00640263 Phase 3 lopinavir/ritonavir (LPV/r);Lamivudine (3TC)
5 Open-label Study of Dolutegravir (DTG) or Efavirenz (EFV) for Human Immunodeficiency Virus (HIV) - Tuberculosis (TB) Co-infection Active, not recruiting NCT02178592 Phase 3 DTG 50 mg;EFV 600 mg
6 The Yellow Fever Vaccine Immunity in HIV Infected Patients : Development of New Assays for Virological and Immunological Monitoring in HIV Infected Patient. Active, not recruiting NCT01426243 Phase 3
7 Kinetics of HIV-RNA Decay in Seminal Plasma of Men Treated by Dolutegravir at the Time of Primary HIV Infection Not yet recruiting NCT02976259 Phase 3 Dolutegravir
8 TMC125-TiDP2-C238: An Exploratory Pharmacokinetics, Safety and Anti-HIV Activity Study of Etravirine (ETR) When Given With Boosted Atazanavir (ATV/Rtv) at Two Different Doses and 1 Nucleoside Reverse Transcriptase Inhibitor (NRTI) in Treatment Experienced Completed NCT00896051 Phase 2 Atazanavir (ATV) 300 mg;Atazanavir (ATV) 400 mg;Ritonavir (rtv) 100 mg;Nucleo(side)/(tide) reverse transcriptase inhibitors (NRTIs);Etravirine (ETR) 200 mg;Tenofovir disoproxil fumarate (TDF) 300 mg
9 Tipranavir Dose-response Study Using a Prototype Self-emulsifying Drug Delivery System (SEDDS) Formulation in Treatment-naive HIV-1 Infected Patients Report on the Post-study Option, a Treatment of Triple Therapy With Delavirdine, ZDV and 3TC Without Tipr Completed NCT02249130 Phase 2 Tipranavir (TPV);Ritonavir (RTV);Delavirdine (DLV);Zidovudine (ZDV);Lamivudine (3TC);Stavudine (d4T)
10 Safety Study of a Dual Anti-HIV Gene Transfer Construct to Treat HIV-1 Infection Active, not recruiting NCT01734850 Phase 1, Phase 2 Busulfan
11 Drug Interaction Study Between Inhaled Beclomethasone and Protease Inhibitors in Healthy Volunteers Completed NCT00936793 Phase 1 Darunavir;Ritonavir;Beclomethasone Dipropionate HFA
12 Nivolumab and Ipilimumab in Treating Patients With HIV Associated Relapsed or Refractory Classical Hodgkin Lymphoma or Solid Tumors That Are Metastatic or Cannot Be Removed by Surgery Recruiting NCT02408861 Phase 1
13 HIV-Resistant Gene Modified Stem Cells and Chemotherapy in Treating Patients With Lymphoma With HIV Infection Recruiting NCT02343666 Phase 1 Carmustine;O6-Benzylguanine;Plerixafor
14 Gene-Modified HIV-Protected Stem Cell Transplant in Treating Patients With HIV-Associated Lymphoma Suspended NCT02378922 Phase 1
15 Immune Response and Cytomegalovirus in Intensive Care Unit (ICU) Patients Completed NCT00699868
16 Observational Study of Nevirapine Extended Release in Human Immunodeficiency Virus (HIV) Patients in Daily Clinical Practice Completed NCT01524900
17 Studies of the Ocular Complications of AIDS (SOCA) CMV Retinitis Trial: Foscarnet-Ganciclovir Component Completed NCT00000665 Foscarnet sodium;Ganciclovir
18 Residual Replication of HIV-1 in the Gut Associated Lymphoid Tissue (GALT) of Patients on Highly Active Antiretroviral Therapy (HAART): the ANRS EP 44 Study Completed NCT01038401
19 Observational Study of HIV-associated Neurocognitive Disorder Recruiting NCT01966094
20 Evaluation of the Effectiveness of an Aldehyde Inhibitor Dehydrogenases (DIMATE) on the Cell Population Leukemic or Normal Stem Recruiting NCT02748850

Search NIH Clinical Center for Immunodeficiency 46

Genetic Tests for Immunodeficiency 46

Anatomical Context for Immunodeficiency 46

MalaCards organs/tissues related to Immunodeficiency 46:

39
T Cells, B Cells

Publications for Immunodeficiency 46

Variations for Immunodeficiency 46

UniProtKB/Swiss-Prot genetic disease variations for Immunodeficiency 46:

71
id Symbol AA change Variation ID SNP ID
1 TFRC p.Tyr20His VAR_076365 rs863225436

ClinVar genetic disease variations for Immunodeficiency 46:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 TFRC NM_003234.3(TFRC): c.58T> C (p.Tyr20His) single nucleotide variant Pathogenic rs863225436 GRCh37 Chromosome 3, 195802210: 195802210

Expression for Immunodeficiency 46

Search GEO for disease gene expression data for Immunodeficiency 46.

Pathways for Immunodeficiency 46

GO Terms for Immunodeficiency 46

Sources for Immunodeficiency 46

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