Cutaneous Granulomas with Predominantly CD8 + Lymphocytic Infiltrate in a Child with Severe Combined Immunodeficiency

Abstract

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.