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

Clinical findings and genetic analysis of the patients with IL-12Rβ1 deficiency from southeast Turkey.

The Turkish journal of pediatrics - 1 Jan 2019

Doğruel Dilek, Gündeşlioğlu Özlem Özgür, Yılmaz Mustafa, Alabaz Derya, Altıntaş Derya Ufuk, Kocabaş Emine

Abstract excerpt

Doğruel D, Gündeşlioğlu ÖÖ, Yılmaz M, Alabaz D, Altıntaş DU, Kocabaş E. Clinical findings and genetic analysis of the patients with IL- 12Rβ1 deficiency from southeast Turkey. Turk J Pediatr 2019; 61: 174-179. IL-12Rβ1 deficiency is an autosomal recessive disorder characterized by predisposition to poorly pathogenic mycobacteria, salmonella and candida species. We aimed to analyze the clinical manifestations,...

Read the complete abstract on PubMed

Topics

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

Share to BCG Vaccine
Share to Candidiasis, Oral

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Consanguinity

Share to Follow-Up Studies

Share to Mycobacterium Infections

Share to Receptors, Interleukin-12

Share to Recurrence

Share to Turkey

Source

Identifiers

PMID: 31951326
DOI: 10.24953/turkjped.2019.02.004

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.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Clinical findings and genetic analysis of the patients with IL-12Rβ1 deficiency from southeast Turkey.PMID 31951326Read ↗

Clinical and genetic features of IL12Rb1 deficiency: Single center experience of 18 patients.Semantic proximity Read ↗

IL-12Rβ1 deficiency: mutation update and description of the IL12RB1 variation database.Semantic proximity Read ↗

Disseminated Salmonellosis in a child with IL12Rß1 deficiency – Case report and review of literature.Semantic proximity Read ↗

IL12Rβ1 defect presenting with massive intra-abdominal lymphadenopathy due to Mycobacterium intracellulare infection.Semantic proximity Read ↗

Disseminated Salmonellosis and cutaneous vasculitis in a child with IL12Rß1 deficiency – a case report & review of literature.Semantic proximity Read ↗

Inherited IL-12p40 deficiency: genetic, immunologic, and clinical features of 49 patients from 30 kindreds.Semantic proximity Read ↗

Salmonella Pneumonia in a Patient with Inherited IL-12Rβ1 Deficiency.Semantic proximity Read ↗

Susceptibility to mycobacterial disease due to mutations in IL-12Rβ1 in three Iranian patients.Semantic proximity Read ↗

Severe Enteropathy and Hypogammaglobulinemia Complicating Refractory Mycobacterium tuberculosis Complex Disseminated Disease in a Child with IL-12Rβ1 Deficiency.Semantic proximity Read ↗

Revisiting human IL-12Rβ1 deficiency: a survey of 141 patients from 30 countries.Semantic proximity Read ↗

Infectious diseases, autoimmunity and midline defect in a patient with a novel bi-allelic mutation in IL12RB1 gene.Semantic proximity Read ↗

Bacille Calmette-Guérin lymphadenitis and recurrent oral candidiasis in an infant with a new mutation leading to interleukin-12 receptor beta-1 deficiency.Semantic proximity Read ↗

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