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

[Primary immunodeficiency disease based on ITK mutation: report of a case].

Zhonghua bing li xue za zhi = Chinese journal of pathology - 8 Jul 2024

Li H Y, Wu X, Yang F C, Li Z F, Li Y C, Li Y C

Abstract excerpt

ITK突变引起的原发性免疫缺陷的淋巴增殖性疾病比较罕见，及时诊断是改善原发性免疫缺陷病的结局并降低其病死率的重要因素。本文报道1例罕见的ITK杂合突变的原发性免疫缺陷的患儿，腹股沟肿块及颈部淋巴结活检提示Burkitt淋巴瘤及淋巴增殖性疾病。临床特征表现为全身淋巴结肿大、严重的EB病毒感染、CD4+T细胞持续减少、双阴性T细胞增加、IgG水平升高、血小板及中性粒细胞减少、低纤维蛋白原血症及高γ球蛋白血症。此病例具有自身免疫性淋巴细胞增生综合征样疾病的临床表现及实验室特征。.

Read the complete abstract on PubMed

Topics

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

Share to Autoimmune Lymphoproliferative Syndrome
Share to Burkitt Lymphoma
Share to Epstein-Barr Virus Infections

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Immunologic Deficiency Syndromes

Share to Lymphoproliferative Disorders

Share to Mutation

Share to Primary Immunodeficiency Diseases

Share to Protein-Tyrosine Kinases

Source

Identifiers

PMID: 38955711
DOI: 10.3760/cma.j.cn112151-20231228-00449

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

[Primary immunodeficiency disease based on ITK mutation: report of a case].PMID 38955711Read ↗

[Clinical features and gene mutations of primary immunodeficiency disease: an analysis of 7 cases].Semantic proximity Read ↗

Primary Immunodeficiency Diseases: an Update on the Classification from the International Union of Immunological Societies Expert Committee for Primary Immunodeficiency 2015.Semantic proximity Read ↗

[Primary immunodeficiency diseases].Semantic proximity Read ↗

[Common variable immunodeficiency: an update on etiology, pathophysiology, and classification].Semantic proximity Read ↗

Primary Immunodeficiency Diseases: An Update on the Classification from the International Union of Immunological Societies Expert Committee for Primary ImmunodeficiencySemantic proximity Read ↗

Primary immunodeficiencies and their associated risk of malignancies in children: an overview.Semantic proximity Read ↗

Fourth Update on the Iranian National Registry of Primary Immunodeficiencies: Integration of Molecular DiagnosisSemantic proximity Read ↗

Epidemiology and pathophysiology of malignancy in common variable immunodeficiency?Semantic proximity Read ↗

[Common variable immunodeficiency].Semantic proximity Read ↗

Immunodeficiency diagnosis: a Mondrian or Pollock scenario?Semantic proximity Read ↗

[Immunodeficiencies: an overview and various diagnostic difficulties].Semantic proximity Read ↗

Molecular diagnosis of primary immunodeficiency diseases in a developing country: Iran as an example.Semantic proximity Read ↗

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