BACKGROUND: Combined immunodeficiency disorders comprise a heterogeneous group of diseases characterized by both humoral and cell-mediated immunodeficiency. Cutaneous granulomas manifestations in children with combined immunodeficiency are rare. OBJECTIVE: We report the case of a 6-year-old boy who presented with disseminated cutaneous granulomas and a history of multiple infections. METHODS AND RESULTS: Laboratory evaluation revealed severe combined immunodeficiency, and deoxyribonucleic acid (DNA) analysis confirmed mutations on a gene of chromosome 19 that encodes an enzyme called Janus kinase 3 (Jak-3). Immunohistochemistry revealed expression of CD8(+) in the perivascular lymphocytic infiltrate CONCLUSION: Disseminated granulomatous lesions in children with a history of frequent infections should prompt the clinician to initiate detailed immunocompetence evaluation as they might prove to be the first manifestation of immunologic impairment.
BACKGROUND:Combined immunodeficiency disorders comprise a heterogeneous group of diseases characterized by both humoral and cell-mediated immunodeficiency. Cutaneous granulomas manifestations in children with combined immunodeficiency are rare. OBJECTIVE: We report the case of a 6-year-old boy who presented with disseminated cutaneous granulomas and a history of multiple infections. METHODS AND RESULTS: Laboratory evaluation revealed severe combined immunodeficiency, and deoxyribonucleic acid (DNA) analysis confirmed mutations on a gene of chromosome 19 that encodes an enzyme called Janus kinase 3 (Jak-3). Immunohistochemistry revealed expression of CD8(+) in the perivascular lymphocytic infiltrate CONCLUSION: Disseminated granulomatous lesions in children with a history of frequent infections should prompt the clinician to initiate detailed immunocompetence evaluation as they might prove to be the first manifestation of immunologic impairment.
Authors: Aleksandra Szczawińska-Popłonyk; Katarzyna Olejniczak; Katarzyna Tąpolska-Jóźwiak; Maciej Boruczkowski; Katarzyna Jończyk-Potoczna; Jadwiga Małdyk; Anna Bręborowicz Journal: Postepy Dermatol Alergol Date: 2020-11-07 Impact factor: 1.837