Genopathy
Gene-Disorder Association · Article
Gene
IL7R
Interleukin 7 Receptor
Disorder
T-B+ Severe Combined Immunodeficiency Due To Il-7ralpha Deficiency
First reported 2004
Supporting publications 5
Key publication · gene–disorder Characterization of a novel nonsense mutation in the interleukin-7 receptor alpha gene in a Korean patient with severe combined immunodeficiency.International journal of hematology · 2004
Key publication · disorder Receptors for interleukin 4, interleukin 5 and interleukin 6.Annali dell'Istituto superiore di sanita · 1990
Manually curated
Association Review

In brief

The association between IL7R (Interleukin 7 Receptor) and T-B+ Severe Combined Immunodeficiency Due To Il-7ralpha Deficiency is well established and manually curated, with its 2 contributing sources — 2 of them expert-curated — recording pathogenic variants and a causative germline mutation.

Sources 2
Clinical variants 1
Symptoms 39
Compounds 0
Trials 0
Publications 5
01
At a glance

Association overview

A cited synthesis of the gene–disorder association, with a clinical-actionability summary where the evidence supports one.

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02
Provenance

Evidence and sources

2 sources

Every contributing database and publication behind this association, with evidence type, strength, accessions and deep links.

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03
IL7R

The gene

1 source summary

A gene summary alongside the source descriptions it was distilled from.

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04
T-B+ Severe Combined Immunodeficiency Due To Il-7ralpha Deficiency

The disorder

5 database identifiers

The disorder’s summary, prevalence, aliases and cross-reference identifiers (OMIM, Orphanet, MONDO, ICD-10, MedGen).

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05
Phenotype

Clinical features

28 clinical features

The disorder’s clinical features (HPO) grouped by body system, each with observed frequency and penetrance.

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06
ClinVar and variant evidence

Genetic basis

1 clinical variant

ClinVar variants reported for this pair, with disorder-specific significance, review status, molecular consequence and origin.

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07
Mechanism overlap

Shared mechanisms

Biological pathways and phenotype concepts shared by the gene and the disorder, with supporting publications.

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08
Literature

Reading

5 publications

Publications linking the gene and the disorder, with title, authors, journal, year and citation metrics.

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09
Provenance

References & sources

10 references

Every source and publication cited across this dossier, as one numbered reference list.

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