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

Immune Deficiency in Jacobsen Syndrome: Molecular and Phenotypic Characterization.

Genes - 31 Jul 2021

Rodríguez-López Raquel, Gimeno-Ferrer Fátima, Montesinos Elena, Ferrer-Bolufer Irene, Luján Carola Guzmán, Albuquerque David, Cataluña Carolina Monzó, Ballesteros Virginia, Pérez-Gramunt Monserrat Aleu

Abstract excerpt

Jacobsen syndrome or JBS (OMIM #147791) is a contiguous gene syndrome caused by a deletion affecting the terminal q region of chromosome 11. The phenotype of patients with JBS is a specific syndromic phenotype predominately associated with hematological alterations. Complete and partial JBS are differentiated depending on which functional and causal genes are haploinsufficient in the patient. We describe the case...

Read the complete abstract on PubMed

Topics

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

Share to Child
Share to Chromosome Deletion

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Chromosomes, Human, Pair 11

Share to Chromosomes, Human, Pair 3

Share to DNA Copy Number Variations

Share to Immunologic Deficiency Syndromes

Share to Phenotype

Source

Open in PubMed Open full text

Identifiers

PMID: 34440371
DOI: 10.3390/genes12081197
PMCID: PMC8394748

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Immune Deficiency in Jacobsen Syndrome: Molecular and Phenotypic Characterization.PMID 34440371Read ↗

Clinical and molecular‐cytogenetic evaluation of a family with partial Jacobsen syndrome without thrombocytopenia caused by an ∼5 Mb deletion del(11)(q24.3)Semantic proximity Read ↗

11q terminal deletion and combined immunodeficiency (Jacobsen syndrome): Case report and literature review on immunodeficiency in Jacobsen syndrome.Semantic proximity Read ↗

Case report: ETS1 gene deletion associated with a low number of recent thymic emigrants in three patients with Jacobsen syndrome.Semantic proximity Read ↗

Inborn errors of immunity associated with characteristic phenotypes.Semantic proximity Read ↗

The Brain-Lung-Thyroid syndrome (BLTS): A novel deletion in chromosome 14q13.2-q21.1 expands the phenotype to humoral immunodeficiency.Semantic proximity Read ↗

Complex Mosaic Ring Chromosome 11 Associated with Hemizygous Loss of 8.6 Mb of 11q24.2qter in Atypical Jacobsen SyndromeSemantic proximity Read ↗

The 11q terminal deletion disorder: a prospective study of 110 cases.Semantic proximity Read ↗

Clinical, laboratory and molecular signs of immunodeficiency in patients with partial oculo-cutaneous albinismSemantic proximity Read ↗

ARHGEF1 deficiency reveals Gα13-associated GPCRs are critical regulators of human lymphocyte functionSemantic proximity Read ↗

Expanding the clinical and immunological phenotypes of COPB1 deficiency.Semantic proximity Read ↗

Antibody Deficiency in Patients with Biallelic KARS1 Mutations.Semantic proximity Read ↗

STAT1 overexpression triggers aplastic anemia: a pilot study unravelling novel pathogenetic insights in bone marrow failureSemantic proximity Read ↗

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