Genopathy
Gene-Disorder Association · Article
Gene
CIITA
Class II Major Histocompatibility Complex Transactivator
Disorder
Severe Combined Immunodeficiency
First reported 1994
Supporting publications 1
Key publication · gene–disorder Clinical consequences and treatment of primary immunodeficiency syndromes characterized by functional T and B lymphocyte anomalies (combined immune deficiency).Pediatrics · 1994
Key publication · disorder The passage of amino acids into the rat's brain.The Journal of physiology · 1970
Manually curated
Association Review

In brief

The association between CIITA (Class II Major Histocompatibility Complex Transactivator) and Severe Combined Immunodeficiency is reported, with clinical genetic testing available.

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

Association overview

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

Request access
02
Provenance

Evidence and sources

1 source

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

Request access
03
CIITA

The gene

1 source summary

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

Request access
04
Severe Combined Immunodeficiency

The disorder

11 database identifiers

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

Request access
05
Literature

Reading

1 publication

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

Request access
06
Provenance

References & sources

4 references

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

Request access