Associated Papers
Association of IgG4-related disease with human inborn errors of immunity.
Batani V et al.
Rheumatology (oxford, England), 2025
40569058 (PubMed )
Supplement: keaf353_supplementary_data.zip › keaf353_Supplementary_Data › rhe-24-2575-File009.pdf
Genetic Landscape of Non-Remitting Neutropenia in Children and Chronic Idiopathic Neutropenia in Adults.
Grossi A et al.
International Journal of Molecular Sciences, 2025
The role of SPINK5 mutation distribution in phenotypes of Netherton syndrome.
Xu M et al.
Frontiers in Genetics, 2025
39931731 (PubMed )
Supplement: Table1.xlsx › Table_S1
From phenotypic to molecular diagnosis: Insights from a clinical immunology service focused on inborn errors of immunity in Colombia
Fernandes Pineda M et al.
Biomedica : Revista Del Instituto Nacional De Salud, 2024
A novel mutation in SPINK5 gene underlies a case of atypical Netherton syndrome.
Wang Y et al.
Frontiers in Genetics, 2022
A novel SPINK5 donor splice site variant in a child with Netherton syndrome.
Mintoff D et al.
Molecular Genetics & Genomic Medicine, 2021
Ichthyosis Linearis Circumflexa as the Only Clinical Manifestation of Netherton Syndrome.
Guerra L et al.
Acta Dermato-venereologica, 2015
Serine protease activity and residual LEKTI expression determine phenotype in Netherton syndrome.
Hachem JP et al.
The Journal of Investigative Dermatology, 2006
Netherton syndrome associated with growth hormone deficiency.
Aydın BK et al.
Pediatric Dermatology, 0
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