Filaggrin-Associated Atopic Skin, Eye, Airways, and Gut Disease, Modifying the Presentation of X-Linked Reticular Pigmentary Disorder (XLPDR)

Background X-linked reticular pigmentary disorder (XLPDR) is a rare condition characterized by skin hyperpigmentation, ectodermal features, multiorgan inflammation, and recurrent infections. All probands identified to date share the same intronic hemizygous POLA1 hypomorphic variant (NM_001330360.2(...

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Veröffentlicht in:	Journal of clinical immunology 2024-01, Vol.44 (1), p.38-38, Article 38
Hauptverfasser:	Li, Margaret W. Y., Burnett, Leslie, Dai, Pei, Avery, Danielle T., Noori, Tahereh, Voskoboinik, Ilia, Shah, Parth R., Tatian, Artiene, Tangye, Stuart G., Gray, Paul E., Ma, Cindy S.
Format:	Artikel
Sprache:	eng
Schlagworte:	Asthma Atopy automation bioinformatics Biomedical and Life Sciences Biomedicine boys Bronchiectasis Chest chromosomes Copy number Cough Cytotoxicity Degranulation digestive system ectoderm Eczema eyes Filaggrin Food allergies Gastroscopy genes Genetic diversity genetic variation Genomes genotype-phenotype correlation heterozygosity Hyperpigmentation Ichthyosis Immunology infancy Infectious Diseases Inflammation Interferon interferons Internal Medicine Keratitis Leukocytes (eosinophilic) Medical Microbiology Natural killer cells Original Article pathogenesis patients Phenotypes Rhinoconjunctivitis Vomiting Whole genome sequencing
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