Associated Papers
Two distinct clinical progressions of P67phox-deficient CGD, both commencing with cervical lymphadenitis.
Dong L et al.
Italian Journal of Pediatrics, 2024
Genetic Evaluation of the Patients with Clinically Diagnosed Inborn Errors of Immunity by Whole Exome Sequencing: Results from a Specialized Research Center for Immunodeficiency in Türkiye.
Erman B et al.
Journal of Clinical Immunology, 2024
Utility of targeted next generation sequencing for inborn errors of immunity at a tertiary care centre in North India.
Rawat A et al.
Scientific Reports, 2022
The ChinaMAP analytics of deep whole genome sequences in 10,588 individuals.
Cao Y et al.
Cell Research, 2020
32355288 (PubMed )
Supplement: 41422_2020_322_MOESM14_ESM.xlsx › S7
Clinical and genetic characteristics of Chinese pediatric patients with chronic granulomatous disease.
Gao LW et al.
Pediatric Allergy and Immunology : Official Publication of the European Society of Pediatric Allergy and Immunology, 2019
The co-occurrence of rare non-ocular phenotypes in patients with inherited retinal degenerations.
Ehrenberg M et al.
Molecular Vision, 2019
Approach to Molecular Diagnosis of Chronic Granulomatous Disease (CGD): an Experience from a Large Cohort of 90 Indian Patients.
Kulkarni M et al.
Journal of Clinical Immunology, 2018
Molecular basis of autosomal recessive chronic granulomatous disease in iran.
Teimourian S et al.
Journal of Clinical Immunology, 2010
Hematologically important mutations: the autosomal recessive forms of chronic granulomatous disease (second update).
Roos D et al.
Blood Cells, Molecules & Diseases, 2010
Four different NCF2 mutations in six families from Turkey and an overview of NCF2 gene mutations.
Köker MY et al.
European Journal of Clinical Investigation, 2009
Focus on FOCIS: the continuing diagnostic challenge of autosomal recessive chronic granulomatous disease.
Yu G et al.
Clinical Immunology (orlando, Fla.), 2008
Genetics and immunopathology of chronic granulomatous disease.
Stasia MJ et al.
Seminars in Immunopathology, 2008
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