Associated Papers
Germline Variants in the Immune Response-Related Genes: Possible Modifying Effect on Age-Dependent BRCA1 Penetrance in Breast Cancer Patient.
Kuligina ES et al.
Cancers, 2025
41374957 (PubMed )
Supplement: cancers-17-03756-s001.zip › Table_S4a.xlsx › Table_S4a
NF-κB pathway variants in Iranian patients with inborn errors of immunity.
Fathi N et al.
Expert Review of Clinical Immunology, 2025
Characterization of infectious and non-infectious gastrointestinal disease in common variable immunodeficiency: analysis of 114 patient cohort.
Sanchez DA et al.
Frontiers in Immunology, 2023
CARMIL2 Immunodeficiency with Epstein Barr Virus Associated Smooth Muscle Tumor (EBV-SMT). Report of a Case with Comprehensive Review of Literature.
Vij M et al.
Fetal and Pediatric Pathology, 2022
Biochemically deleterious human NFKB1 variants underlie an autosomal dominant form of common variable immunodeficiency.
Li J et al.
The Journal of Experimental Medicine, 2021
The impact of rare and low-frequency genetic variants in common variable immunodeficiency (CVID).
Bisgin A et al.
Scientific Reports, 2021
33859323 (PubMed )
Supplement: 41598_2021_87898_MOESM2_ESM.pdf
High frequency of variants in genes associated with primary immunodeficiencies in patients with rheumatic diseases with secondary hypogammaglobulinaemia.
Sogkas G et al.
Annals of the Rheumatic Diseases, 2021
Histaminergic transmission slows progression of amyotrophic lateral sclerosis.
Apolloni S et al.
Journal of Cachexia, Sarcopenia and Muscle, 2019
Integrated clinical and omics approach to rare diseases: novel genes and oligogenic inheritance in holoprosencephaly.
Kim A et al.
Brain : a Journal of Neurology, 2019
30508070 (PubMed )
Supplement: awy290_supplementary_table_s1.pdf
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