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 Dysregulation in Human ITCH Deficiency Successfully Treated with Hematopoietic Cell Transplantation.

The journal of allergy and clinical immunology. In practice - 1 Jul 2021

Patel Trusha, Henrickson Sarah E, Moser Emily K, Field Natania S, Maurer Kelly, Dawany Noor, Conrad Maire, Bunin Nancy, Freedman Jason L, Heimall Jennifer, Arnold Danielle E, Wang Jing, Markowitz Jonathan E, Payne-Poff Sarah Beth, Williams Kelli W, Russo Pierre A, Wherry E John, Devoto Marcella, Oliver Paula, Sullivan Kathleen E, Kelsen Judith R

Abstract excerpt

BACKGROUND: Mutations in ITCH, which encodes an E3 ubiquitin-protein ligase, can result in systemic autoimmunity and immunodeficiency. The clinical phenotype and mechanism of disease have not been fully characterized, resulting in a paucity of therapeutic options for this potentially fatal disease. OBJECTIVE: We aimed to (1) expand the understanding about the phenotype of human ITCH deficiency (2) further...

Read the complete abstract on PubMed

Topics

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

Share to Autoimmunity

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Hematopoietic Stem Cell Transplantation

Share to Immunologic Deficiency Syndromes

Share to Immunophenotyping

Share to Mutation

Share to Repressor Proteins

Share to Ubiquitin-Protein Ligases

Source

Open in PubMed Open full text

Identifiers

PMID: 33894394
DOI: 10.1016/j.jaip.2021.04.010
PMCID: PMC9053103

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Immune Dysregulation in Human ITCH Deficiency Successfully Treated with Hematopoietic Cell Transplantation.PMID 33894394Read ↗

Itch regulation of innate and adaptive immune responses in mice and humans.Semantic proximity Read ↗

Human ITCH E3 ubiquitin ligase deficiency causes syndromic multisystem autoimmune disease.Semantic proximity Read ↗

Immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) and IPEX-related disorders: an evolving web of heritable autoimmune diseases.Semantic proximity Read ↗

TTC7A: Steward of Intestinal HealthSemantic proximity Read ↗

Autoimmune and autoinflammatory manifestations in inborn errors of immunity.Semantic proximity Read ↗

Molecular diagnosis of childhood immune dysregulation, polyendocrinopathy, and enteropathy, and implications for clinical management.Semantic proximity Read ↗

Treatment of inborn errors of immunity patients with inflammatory bowel disease phenotype by allogeneic stem cell transplantation.Semantic proximity Read ↗

Novel ZBTB24 Mutation Associated with Immunodeficiency, Centromere Instability, and Facial Anomalies Type-2 Syndrome Identified in a Patient with Very Early Onset Inflammatory Bowel Disease.Semantic proximity Read ↗

Gene alterations in inborn errors of immunity and their presence in cancers: Implications for oncogenesis, progression, and outcomes.Semantic proximity Read ↗

Genomic Insights into Pediatric Intestinal Inflammatory and Eosinophilic Disorders using Single-sell RNA-sequencingSemantic proximity Read ↗

Human JAK1 gain of function causes dysregulated myelopoeisis and severe allergic inflammationSemantic proximity Read ↗

A Collection of Patient-Derived Intestinal Organoid Lines Reveals Epithelial Phenotypes Associated with Genetic Drivers of Pediatric Inflammatory Bowel Disease.Semantic proximity Read ↗

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