Disease

Immunodeficiency 18

Also known as CD3-Epsilon deficiency, IMD18, immunodeficiency 18, SCID variant, immunodeficiency 18, Severe combined immunodeficiency variant+1 more

CD3-Epsilon deficiency, IMD18, immunodeficiency 18, SCID variant, immunodeficiency 18, Severe combined immunodeficiency variant, immunodeficiency type 18.

Associated genes

Related proteins

What's happening now

An analyst briefing on current research, clinical, regulatory and industry activity surrounding this disease.

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Therapeutic landscape

Therapies with a regulatory footing for this condition, alongside the wider set of agents co-studied with it in the literature.

Approved & established therapies

Rilpivirine hydrochlorideapproved

Approval — EDURANT, in combination with other antiretroviral medicinal products, is indicated for th… (2011)

Regulatory timeline

Drug regulatory events matched to this condition by indication — EMA.

First approvals

2011emaApproval — Rilpivirine hydrochloride· EDURANT, in combination with other antiretroviral medicinal products, is indicated for the treatment of human immunodeficiency virus type 1 (HIV 1) infection in paediatric patients 2 to less than 18 years of age and weighing at least 14 kg to less than 25 kg without known mutations associated with resistance to the non-nucleoside reverse transcriptase inhibitor (NNRTI) class, and with a viral load ≤ 100,000 HIV 1 RNA copies/ml (see sections 4.4 and 5.1).Genotypic resistance testing should guide the use of EDURANT (see sections 4.4 and 5.1).EDURANT, in combination with other antiretroviral medicinal products, is indicated for the treatment of human immunodeficiency virus type 1 (HIV 1) infection in adults and paediatric patients weighing at least 25 kg without known mutations associated with resistance to the non-nucleoside reverse transcriptase inhibitor (NNRTI) class, and with a viral load ≤ 100,000 HIV 1 RNA copies/ml (see sections 4.4 and 5.1).Genotypic resistance testing should guide the use of EDURANT (see sections 4.4 and 5.1). source ↗

European Medicines Agency (CC BY 4.0). Events are matched to this condition by drug indication text — approvals/updates for drugs indicated for it, not disease-specific acts.

Associated genes

6 matches

Genes associated with this disease in the canonical knowledge graph (Open Targets evidence). Number shows the association score.

CD3E0.74 CLEC4D0.06 GAB30.06 LMBR1L0.05 ZBTB10.05 SPINK140.05

Disease biology

1 match

Proteins whose encoding gene is associated with this disease, reached through the canonical gene→disease graph. Number shows the gene's association score.

T-cell surface glycoprotein CD3 epsilon chainvia CD3E0.74

Reference

Authoritative identity, definition & identifiers.

Synonyms

CD3-Epsilon deficiency, IMD18, immunodeficiency 18, SCID variant, immunodeficiency 18, Severe combined immunodeficiency variant, immunodeficiency type 18

References & data sources

Disease identity & definition — NLM Medical Subject Headings (MeSH), public domain
Related entities are derived from literature co-mention (studied together) — associative, not causal.