Genopathy
Gene-Disorder Association · Article
Gene
CIITA
Class II Major Histocompatibility Complex Transactivator
Disorder
Immune Deficiency Disease
First reported 1993
Supporting publications 16
Key publication · gene–disorder Major histocompatibility complex class II deficiency: clinical manifestations, immunologic features, and outcome.The Journal of pediatrics · 1993
Key publication · disorder Combined immune deficiency disease: its radiographic expression.Radiology · 1968
Manually curated
Association Review

In brief

The association between CIITA (Class II Major Histocompatibility Complex Transactivator) and Immune Deficiency Disease is reported, with clinical genetic testing available.

Sources 1
Clinical variants 0
Symptoms 9
Compounds 0
Trials 0
Publications 16
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
Immune Deficiency Disease

The disorder

19 database identifiers

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

Request access
05
Phenotype

Clinical features

1 clinical feature

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

Request access
06
Literature

Reading

16 publications

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

Request access
07
Provenance

References & sources

13 references

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

Request access