case_images: PMC10693464_01
case_images: Clinical dermatological appearance of edematous erythematous papules on the arms.
case_images: CRII2023-6698913.001.jpg
case_images: PMC10693464_01_CRII2023-6698913.001.jpg
case_images: fig1
case_images: A 55-year-old male with a longstanding misdiagnosis of common variable immunodeficiency presented with edematous erythematous papules on the nose and arms with swollen lymph nodes (Figure 1).
case_images: Exocytosis of small lymphocytes in the epidermis with tagging of the basement membrane zone.
case_images: CRII2023-6698913.002.jpg
case_images: PMC10693464_01_CRII2023-6698913.002.jpg
case_images: fig2
case_images: Biopsy revealed exocytosis of small lymphocytes in the epidermis with tagging of the basement membrane zone (Figure 2).
case_images: Pedigree showing X-linked recessive inheritance pattern. Red star indicates the patient. Given that only his mother and grandmother are carriers of a mutation for XLA, the only affected individuals are male (the patient and his nephews).
case_images: CRII2023-6698913.003.jpg
case_images: PMC10693464_01_CRII2023-6698913.003.jpg
case_images: fig3
case_images: The identification of the novel mutation and new diagnosis prompted further investigation into the patient's family history (Figure 3).