Discover Community Create You

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

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

International archives of allergy and immunology - 1 Jan 2010

Schmetterer Klaus G, Seidel Markus G, Körmöczi Ulrike, Rottal Arno, Schwarz Klaus, Matthes-Martin Susanne, Steinberger Peter, Pickl Winfried F

Abstract excerpt

BACKGROUND: Primary immunodeficiencies represent the 'molecular Achilles' heels' of human immunity. Detailed analyses of primary immunodeficiencies extend our knowledge of pivotal immunological processes, lead to novel diagnostic algorithms and shorten the time to diagnosis. METHODS: Clinical/immunological phenotypes of 2 unrelated patients from Austria with combined immunodeficiency were determined. Leukocyte...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Agammaglobulinemia
Share to Antigens, Differentiation, B-Lymphocyte

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to CD3 Complex

Share to CD4-Positive T-Lymphocytes

Share to Histocompatibility Antigens Class II

Share to Immunologic Deficiency Syndromes

Share to Lymphopenia

Share to Superantigens

Source

Identifiers

PMID: 20197681
DOI: 10.1159/000288292

Genes

CIITA

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Two newly diagnosed HLA class II-deficient patients identified by rapid vector-based complementation analysis reveal discoordinate invariant chain expression levels.PMID 20197681Read ↗

MHC-II Deficiency Among Egyptians: Novel Mutations and Unique Phenotypes.Semantic proximity Read ↗

Mutation of RFXAP, a regulator of MHC class II genes, in primary MHC class II deficiency.Semantic proximity Read ↗

Clinical, Immunological, and Molecular Findings in Five Patients with Major Histocompatibility Complex Class II Deficiency from India.Semantic proximity Read ↗

Human leucocyte antigen-identical haematopoietic stem cell transplantation in major histocompatiblity complex class II immunodeficiency: reduced survival correlates with an increased incidence of acute graft-versus-host disease and pre-existing viral infections.Semantic proximity Read ↗

MHC class II deficiency: Report of a novel mutation and special review.Semantic proximity Read ↗

MHC Class II Deficiency: Clinical, Immunological, and Genetic Insights in a Large Multicenter Cohort.Semantic proximity Read ↗

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

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

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

The human cytomegalovirus-encoded pUS28 antagonizes CD4+ T-cell recognition by targeting CIITASemantic proximity Read ↗

Genetic complexity of regulatory mutants defective for HLA class II gene expression.Semantic proximity Read ↗

Clinical and immunological aspects of HLA class I deficiencySemantic proximity Read ↗

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