Features include: Recurrent urinary tract infections, Malabsorption, Recurrent lower respiratory tract infections, and Agammaglobulinemia and 18 more.

CIITA encodes class II major histocompatibility complex transactivator (1,130 aa). Essential for transcriptional activity of the HLA class II promoter; activation is via the proximal promoter. Does not bind DNA. Highest expression in Cells EBV-transformed lymphocytes (35.7 TPM) and Spleen (24.4 TPM).

MHC class II deficiency 1 is associated with mutations in the CIITA gene on chromosome 16.

The CIITA protein participates in STAT1 stimulates SMAD7 gene transcription pathway.

CIITA is classified as a druggable target (Clinically Actionable, Enzyme, Kinase, and Transcription Factor categories) with score 0.0.

Genetic testing for CIITA is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for MHC class II deficiency 1 has been reported in the published literature.

No clinical trials have been registered for MHC class II deficiency 1.

39 publications have been identified in PubMed for MHC class II deficiency 1. Research spans Basic Science / Preclinical (64%), Review / Meta-Analysis (10%), and Clinical Trial Publication (8%).