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

[Short stature, optic nerve atrophy and Pelger-Huët anomaly syndrome with antibody immunodeficiency and aplastic anemia: a case report and literature review].

Zhonghua er ke za zhi = Chinese journal of pediatrics - 2 Dec 2017

He T Y, Zhang N, Xia Y, Luo Y, Li C R, Yang J

Abstract excerpt

Objective: To investigate the clinical features and genetic characteristics of cases with NBAS gene defects. Method: Characteristics of clinical materials, immunological data and gene mutation of the first case in China with NBAS gene mutation were retrospectively analyzed. The related literature was searched by using search terms'NBAS'. Result: A 2-year-four-month old girl, was admitted due to 'fever and pallor...

Read the complete abstract on PubMed

Topics

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

Share to Anemia, Aplastic
Share to Atrophy

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Evoked Potentials, Visual

Share to Immune System

Share to Immunologic Deficiency Syndromes

Share to Liver Failure, Acute

Share to Optic Nerve

Share to Osteochondrodysplasias

Source

Identifiers

PMID: 29262476
DOI: 10.3760/cma.j.issn.0578-1310.2017.12.015

Genes

NBAS

Variants

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

[Short stature, optic nerve atrophy and Pelger-Huët anomaly syndrome with antibody immunodeficiency and aplastic anemia: a case report and literature review].PMID 29262476Read ↗

NBAS gene-deficient disease complicated with autoimmune thyroiditis and autoimmune thrombocytopenia: a case report and literature reviewSemantic proximity Read ↗

Severe SOPH syndrome due to a novel NBAS mutation in a 27-year-old woman-Review of this pleiotropic, autosomal recessive disorder: Mystery solved after two decades.Semantic proximity Read ↗

A 34-year-old Japanese patient exhibiting NBAS deficiency with a novel mutation and extended phenotypic variation.Semantic proximity Read ↗

A novel compound heterozygous NBAS variant with HLH and multisystem involvement: expanding the clinical spectrum and literature review.Semantic proximity Read ↗

NBAS mutations cause a multisystem disorder involving bone, connective tissue, liver, immune system, and retina.Semantic proximity Read ↗

A clinical study of Sotos syndrome patients with review of the literature.Semantic proximity Read ↗

[Clinical phenotype and gene diagnostic analysis of Omenn syndrome].Semantic proximity Read ↗

Autoimmune hemolytic anemia and thrombocytopenia in a Chinese patient with heterozygous NBAS mutations: Case report.Semantic proximity Read ↗

Clinical and Therapeutic Aspects of Sideroblastic Anaemia with B-Cell Immunodeficiency, Periodic Fever and Developmental Delay (SIFD) Syndrome: a Systematic Review.Semantic proximity Read ↗

Bainbridge-ropers syndrome caused by loss-of-function variants in ASXL3: Clinical abnormalities, medical imaging features, and gene variation in infancy of case report.Semantic proximity Read ↗

Immune Deficiency in Jacobsen Syndrome: Molecular and Phenotypic Characterization.Semantic proximity Read ↗

Growth retardation, intellectual disability, facial anomalies, cataract, thoracic hypoplasia, and skeletal abnormalities: a novel phenotype.Semantic proximity Read ↗

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