Clinical Images: X‐Linked Combined Immunodeficiency and Granulomatosis With Polyangiitis

We report a five-year-old boy who had been experiencing recurrent skin erosion in the right corner of the mouth (Supplementary Figure A), over the bilateral nostrils and bilateral external auditory canals (Supplementary Figure B) since age 2.5 years. At age four years, the boy developed vocal hoarseness due to vocal fold and epiglottic masses. He underwent laryngoscopy with excision of the masses. The pathological examination indicated mucosal inflammation with necrosis, ulcers, and inflammatory granulation tissue formation. At age 4.5 years, he had repeated skin erosion of the right thumb and index finger (Figure 1). Cytoplasmic antineutrophil cytoplasmic antibody testing was positive. Secretion next-generation sequencing revealed infections with human herpes virus, Enterococcus avium, Enterobacter cloacae, and Candida albicans. Auditory evoked potentials indicated conductive hearing loss in the right ear. Head magnetic resonance imaging showed sinusitis. Whole-exome genetic testing identified IL2RG mutations (c.270-14C>G, chrX-70330552).1 Therefore, the patient was diagnosed with X-linked combined immunodeficiency and granulomatosis with polyangiitis.2 Treatment included human intravenous immunoglobulin, fluconazole, acyclovir, compound sulfamethoxazole, and prednisone at a dose of 1mg/kg per day. Follow-up over the past two months showed improvement in the skin ulcers. Supported by the Clinical Cultivation Project of the Capital Institute of Pediatrics (project LCYJ-2023-12). Additional supplementary information cited in this article can be found online in the Supporting Information section (http://onlinelibrary.wiley.com/doi/10.1002/acr2.11708). Disclosure form Supplementary Figure A: Supplementary Figure B: Please note: The publisher is not responsible for the content or functionality of any supporting information supplied by the authors. Any queries (other than missing content) should be directed to the corresponding author for the article.