Case report: a chinese boy with facial dysmorphism, immunodeficiency, livedo, and short stature syndrome

HIGHLIGHTS

• who: Geli Liu from the University Hospital October, Spain have published the article: Case report: A Chinese boy with facial dysmorphism, immunodeficiency, livedo, and short stature syndrome, in the Journal: (JOURNAL)
• what: The authors reported the first Chinese patient with FILS syndrome and the impact of the POLE gene variant on the clinical phenotype. were normal. Conversely, the patient in the study had normal total IgG, IgG2, IgM, and IgA levels, except for IgG4, and therefore, the immunodeficiency symptoms in the patient were mild. suppurative otitis media.

SUMMARY

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