Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Absence of MHC class II gene expression in a patient with a single amino acid substitution in the class II transactivator protein CIITA.

Immunogenetics - 1 Oct 1999

Quan V, Towey M, Sacks S, Kelly A P

Abstract excerpt

We investigated the underlying genetic defect in an immunodeficient patient who presented with recurrent bacterial infections in his late twenties and demonstrated a transcriptional defect in major histocompatibility complex (MHC) class II regulation. Transient heterokaryon analysis implicated functional loss of CIITA, the MHC class II transactivator protein, and in support of this MHC class II antigen expression...

Topics

Adult
Amino Acid Substitution
Bacterial Infections
Cell Line, Transformed
Fatal Outcome
Gene Expression Regulation
Genes, MHC Class II
Genetic Complementation Test
Genetic Predisposition to Disease
HLA-D Antigens

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Humans

Male

Nuclear Proteins

Point Mutation

Recurrence

Severe Combined Immunodeficiency

Trans-Activators

Transcription, Genetic

Source

Identifiers

PMID: 10501838
DOI: 10.1007/s002510050579

Genes

CIITA

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

Community interpretation

Discuss the evidence

Ask a question, add context or challenge an interpretation. Community activity is separate from scientific evidence strength.

0

discussions

0

replies

Citations encouraged

Claims remain attributable.

No discussion yet

Be the first to add a careful, cited interpretation.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Absence of MHC class II gene expression in a patient with a single amino acid substitution in the class II transactivator protein CIITA.PMID 10501838Read ↗

Three novel mutations of the CIITA gene in MHC class II-deficient patients with a severe immunodeficiency.Semantic proximity Read ↗

Defective MHC class II expression in an MHC class II deficiency patient is caused by a novel deletion of a splice donor site in the MHC class II transactivator gene.Semantic proximity Read ↗

Two novel mutations in the MHC class II transactivator CIITA in a second patient from MHC class II deficiency complementation group A.Semantic proximity Read ↗

Induction of MHC class I expression by the MHC class II transactivator CIITA.Semantic proximity Read ↗

Two newly diagnosed HLA class II-deficient patients identified by rapid vector-based complementation analysis reveal discoordinate invariant chain expression levels.Semantic proximity Read ↗

The AIR-1 encoded class II transactivator (CIITA): the master coordinator of MHC class II gene expression and .. more.Semantic proximity Read ↗

Characterization of the expressed CIITA allele in the class II MHC transcriptional mutant RJ2.2.5.Semantic proximity Read ↗

Splicing defect in RFXANK results in a moderate combined immunodeficiency and long-duration clinical course.Semantic proximity Read ↗

Self-association of CIITA and its transactivation potential.Semantic proximity Read ↗

CIITA leucine-rich repeats control nuclear localization, in vivo recruitment to the major histocompatibility complex (MHC) class II enhanceosome, and MHC class II gene transactivation.Semantic proximity Read ↗

Human cytomegalovirus decreases constitutive transcription of MHC class II genes in mature Langerhans cells by reducing CIITA transcript levelsSemantic proximity Read ↗

MHC class II-deficient tumor cell lines with a defective expression of the class II transactivator.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.