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

Absent X-linked inhibitor of apoptosis protein expression in T cell blasts and causal mutations including non-coding deletion.

Pediatrics international : official journal of the Japan Pediatric Society - 1 Jan 2022

Abdrabou Shimaa Said Mohamed Ali, Toita Nariaki, Ichihara Shin, Tozawa Yusuke, Takahashi Michiko, Fujiwara Shin-Ichi, Ashida Toshifumi, Ohara Osamu, Ariga Tadashi, Manabe Atsushi, Konno Mutsuko, Yamada Masafumi

Abstract excerpt

BACKGROUND: X-linked inhibitor of apoptosis protein (XIAP) deficiency is one of inborn errors of immunity characterized by recurrent hemophagocytic lymphohistiocytosis and refractory inflammatory bowel disease (IBD), mimicking Crohn's disease. The aim of this study is to make an accurate diagnosis of XIAP deficiency based on genetic and XIAP expression studies and to investigate endoscopic findings shared by...

Read the complete abstract on PubMed

Topics

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

Share to Lymphohistiocytosis, Hemophagocytic
Share to Lymphoproliferative Disorders

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Mutation

Share to T-Lymphocytes

Share to X-Linked Inhibitor of Apoptosis Protein

Source

Identifiers

PMID: 34145698
DOI: 10.1111/ped.14892

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Absent X-linked inhibitor of apoptosis protein expression in T cell blasts and causal mutations including non-coding deletion.PMID 34145698Read ↗

[X-linked inhibitor of apoptosis deficiency manifested as Crohn's disease: a case report and literature review].Semantic proximity Read ↗

Inflammatory Bowel Disease With Lethal Disease Course Caused by a Nonsense Mutation in BIRC4 Encoding X-Linked Inhibitor of Apoptosis Protein (XIAP).Semantic proximity Read ↗

How genetic testing can lead to targeted management of XIAP deficiency-related inflammatory bowel disease.Semantic proximity Read ↗

Novel XIAP mutation causing enhanced spontaneous apoptosis and disturbed NOD2 signalling in a patient with atypical adult-onset Crohn's disease.Semantic proximity Read ↗

Nucleotide-binding oligomerization domain (NOD) signaling defects and cell death susceptibility cannot be uncoupled in X-linked inhibitor of apoptosis (XIAP)-driven inflammatory disease.Semantic proximity Read ↗

X-linked inhibitor of apoptosis protein deficiency complicated with Crohn's disease-like enterocolitis and Takayasu arteritis: A case report.Semantic proximity Read ↗

Making a definitive diagnosis: successful clinical application of whole exome sequencing in a child with intractable inflammatory bowel disease.Semantic proximity Read ↗

X-linked inhibitor of apoptosis (XIAP) deficiency: the spectrum of presenting manifestations beyond hemophagocytic lymphohistiocytosis.Semantic proximity Read ↗

Phenotype, genotype, treatment, and survival outcomes in patients with X-linked inhibitor of apoptosis deficiency.Semantic proximity Read ↗

Novel XIAP mutation in early-onset Crohn’s disease complicated with Acute Heart Failure: a case reportSemantic proximity Read ↗

Eosinophilic colitis in a boy with a novel XIAP mutation: a case report.Semantic proximity Read ↗

Deficiency in X-linked inhibitor of apoptosis protein promotes susceptibility to microbial triggers of intestinal inflammationSemantic proximity Read ↗

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