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

Leukocyte Adhesion Deficiency Type 1 Due to Novel ITGB2 Mutation.

Irish medical journal - 30 Jul 2020

Harvey S, Cremin M, Conlon N, Moore M, Leahy R, Felsenstein S

Abstract excerpt

Aim Marked neutrophilia and omphalitis in an infant resulted in the diagnosis of the first case of leukocyte adhesion deficiency type 1 (LAD1) in Ireland. Diagnosis LAD1 requires specific molecular diagnostics for its correct identification. Results Early identification of this disorder allowed for rapid referral for haemotopoeitic stem cell transplant which has resulted in an excellent outcome for this patient....

Read the complete abstract on PubMed

Topics

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

Share to CD18 Antigens
Share to Leukocyte-Adhesion Deficiency Syndrome
Share to Leukocytosis

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

Share to Mutation

Source

Identifiers

PMID: 33957747

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

Leukocyte Adhesion Deficiency Type 1 Due to Novel ITGB2 Mutation.PMID 33957747Read ↗

Novel ITGB2 Mutation Is Responsible for a Severe Form of Leucocyte Adhesion Deficiency Type 1.Semantic proximity Read ↗

Characterization of 11 new cases of leukocyte adhesion deficiency type 1 with seven novel mutations in the ITGB2 gene.Semantic proximity Read ↗

Rare and Heterogeneous manifestations of Leucocyte adhesion deficiency type 1: Report of two cases with diagnostic dilemmas and Novel ITGB mutation.Semantic proximity Read ↗

An atypical adolescent case of leukocyte adhesion deficiency I caused by a novel ITGB2 splicing variant with successful immune reconstitution following hematopoietic stem cell transplantation.Semantic proximity Read ↗

Clinical and laboratory findings in patients with leukocyte adhesion deficiency type I: A multicenter study in Turkey.Semantic proximity Read ↗

A novel ITGB2 variant with long survival in patients with leukocyte adhesion defect type-I.Semantic proximity Read ↗

Clinical and Laboratory Findings in Patients with Leukocyte Adhesion Deficiency Type I: A Multicenter Study in TurkeySemantic proximity Read ↗

Clinical and Genetic Spectrum of a Large Cohort of Patients With Leukocyte Adhesion Deficiency Type 1 and 3: A Multicentric Study From India.Semantic proximity Read ↗

Molecular characterization of leukocyte adhesion deficiency-I in Indian patients: identification of 9 novel mutations.Semantic proximity Read ↗

Mutation spectra of the ITGB2 gene in Iranian families with leukocyte adhesion deficiency type 1.Semantic proximity Read ↗

β2 Integrin Gene (ITGB2) mutation spectra in Pakistani families with leukocyte adhesion deficiency type 1 (LAD1).Semantic proximity Read ↗

Hematologically important mutations: Leukocyte adhesion deficiency (second update).Semantic proximity Read ↗

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