ReviewFrontiers in immunology2026
Pediatric ectodermal dysplasia with immunodeficiency caused by a hemizygous
Review in Frontiers in immunology, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
Objective: This case report looks at a child's ectodermal dysplasia with immunodeficiency ( Methods: A pediatric patient diagnosed with Results: The patient exhibited symptoms including fever, mucoid bloody stools, and atopic dermatitis. WES analysis revealed the presence of a hemizygous variant, designated c.1167dup (p. Glu390ArgfsTer5), within the Conclusion: In pediatric patients with early-onset findings, immunodeficiency should be considered after excluding infections, rheumatic or malignancies. Key clinical features that raise suspicion include sparse hair, reduced sweating, dry skin, recurrent infections, treatment-refractory atopic dermatitis, persistently elevated acute-phase inflammatory markers, and immune dysfunction. Genetic testing facilitates early diagnosis, thereby supporting treatment planning. In this study, we identified a pathogenic
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