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

Clinical and immunological manifestations of patients with atypical severe combined immunodeficiency.

Clinical immunology (Orlando, Fla.) - 1 Oct 2011

Felgentreff Kerstin, Perez-Becker Ruy, Speckmann Carsten, Schwarz Klaus, Kalwak Krzysztof, Markelj Gasper, Avcin Tadej, Qasim Waseem, Davies E G, Niehues Tim, Ehl Stephan

Abstract excerpt

Hypomorphic mutations in genes associated with severe combined immunodeficiency (SCID) or Omenn syndrome can also cause milder immunodeficiencies. We report 10 new patients with such "atypical" SCID and summarize 63 patients from the literature. The patient groups with T(low)B(low) (n=28), T(low)B(+) (n=16) and ADA (n=29) SCID variants had similar infection profiles but differed in the frequency of immune...

Read the complete abstract on PubMed

Topics

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

Share to Adenosine Deaminase
Share to Agammaglobulinemia

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Autoimmune Diseases

Share to B-Lymphocytes

Share to Immunoglobulin E

Share to Infections

Share to Severe Combined Immunodeficiency

Share to T-Lymphocytes

Source

Identifiers

PMID: 21664875
DOI: 10.1016/j.clim.2011.05.007

Genes

ADA

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Clinical and immunological manifestations of patients with atypical severe combined immunodeficiency.PMID 21664875Read ↗

Severe combined immunodeficiences: new and old scenarios.Semantic proximity Read ↗

Clinical, Immunological, and Molecular Features of Typical and Atypical Severe Combined Immunodeficiency: Report of the Italian Primary Immunodeficiency NetworkSemantic proximity Read ↗

Clinical, immunological and molecular findings of 8 patients with typical and atypical severe combined immunodeficiency: identification of 7 novel mutations by whole exome sequencing.Semantic proximity Read ↗

Clinical, Immunological and Molecular Findings of Patients with Severe Combined Immunodeficiency: Introducing of 7 Novel Mutations in 7 GenesSemantic proximity Read ↗

Omenn syndrome: inflammation in leaky severe combined immunodeficiency.Semantic proximity Read ↗

New clinical aspects of immune dysregulation in atypical severe combined immunodeficiency due to mutations in IL2RG and RAG1Semantic proximity Read ↗

Primary Immunodeficiency Diseases: An Update on the Classification from the International Union of Immunological Societies Expert Committee for Primary ImmunodeficiencySemantic proximity Read ↗

Immunodeficiency and disorders of immune dysregulation.Semantic proximity Read ↗

Mutational landscape of severe combined immunodeficiency patients from Turkey.Semantic proximity Read ↗

More than just SCID--the phenotypic range of combined immunodeficiencies associated with mutations in the recombinase activating genes (RAG) 1 and 2.Semantic proximity Read ↗

Human severe combined immunodeficiency: genetic, phenotypic, and functional diversity in one hundred eight infants.Semantic proximity Read ↗

The cup runneth over: lessons from the ever-expanding pool of primary immunodeficiency diseases.Semantic proximity Read ↗

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