Cutaneous granulomas with predominantly CD8(+) lymphocytic infiltrate in a child with severe combined immunodeficiency.
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.


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


CONCLUSIONS
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.
Gregoriou
Stamatis
S
1st Department of Dermatology, University of Athens, Greece. stamgreg@yahoo.gr
Trimis
Georgios
G
Charissi
Christina
C
Kalogeromitros
Dimitris
D
Stefanaki
Kalliopi
K
Rigopoulos
Dimitris
D
D018414:CD8-Positive T-Lymphocytes / Q000473:pathology*; D002648:Child; D006099:Granuloma / Q000150:complications* / Q000276:immunology / Q000473:pathology; D006801:Humans; D053616:Janus Kinase 3 / Q000235:genetics; D008297:Male; D009154:Mutation; D016511:Severe Combined Immunodeficiency / Q000150:complications* / Q000235:genetics / Q000276:immunology; D012871:Skin Diseases / Q000150:complications* / Q000276:immunology / Q000473:pathology
D053616:Janus Kinase 3