PMC9111885_01
Clinical features: (A) microcephaly in P1; (B, C) hypopigmented skin lesions in P2; and (D, E) hypopigmented skin lesion in P3.
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Patient 3 (P3) is a 7-year-old boy from African-origin nonconsanguineous parents that presented depigmented macules and patches with acrofacial and genital distribution since the age of 6 (Figures 1D, E), as well as persistent lymphopenia and hypogammaglobulinemia.