Novel PGM3 mutation in two siblings with combined immunodeficiency and childhood bullous pemphigoid: a case report and review of the literature.
Mazdak FallahiMahnaz JameeJavad EnayatFahimeh AbdollahimajdMehrnaz MesdaghiMaliheh KhoddamiAnna Segarra-RocaAlexandra FrohneJasmin DmytrusMohammad KeramatipourMahboubeh MansouriGolnaz EslamianShahrzad FallahKaan BoztugZahra ChavoshzadehPublished in: Allergy, asthma, and clinical immunology : official journal of the Canadian Society of Allergy and Clinical Immunology (2022)
Dermatologic disorders may be the presenting sign in patients with CID and mutated PGM3. This case report further extends the spectrum of skin manifestations that could be observed in PGM3 deficiency and emphasizes the importance of considering CIDs during the assessment of skin disorders, particularly if they are extensive, recurrent, refractory to treatment, and/or associated with other signs of IEIs.