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.
1st Department of Dermatology, University of Athens, Greece. stamgreg@yahoo.gr
Stamatis
S
Gregoriou
Georgios
G
Trimis
Christina
C
Charissi
Dimitris
D
Kalogeromitros
Kalliopi
K
Stefanaki
Dimitris
D
Rigopoulos
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