Skin infiltration of CD56(bright) CD16(-) natural killer cells in a case of X-SCID with Omenn syndrome-like manifestations.
We observed a patient with X-linked severe combined immunodeficiency (X-SCID) with Omenn syndrome-like manifestations. X-linked inheritance, absence of CD132 expression and impaired response to interleukin-2 (IL-2) indicated that the case is typical of X-SCID due to gamma(c) defect. However, this case was unusual in that circulating natural killer (NK) cells were increased and nearly half of these NK cells exhibited the CD56(bright) CD16(-) phenotype. A missense mutation was found within exon 5 of the IL2RG gene. The identical mutation was detected within NK, CD4(+) T and B cells. Engraftment of maternally derived NK cells or gene reversion was ruled out. The erythroderma-like skin lesion was characterized by infiltration of the dermis by CD56(bright) NK cells admixed with CD1a(+) dendritic cells (DC). Expression of mRNA for inflammatory cytokines was significantly enhanced within the skin. This may be the first human case to demonstrate that close cell-to-cell contact between DC and NK cells provides an effective alternative pathway for NK cell differentiation/activation in vivo.
Shibata
Fumie
F
Department of Pediatrics, Kanazawa University Graduate School of Medical Science, Kanazawa, Japan.
Toma
Tomoko
T
Wada
Taizo
T
Inoue
Masayuki
M
Tone
Yumi
Y
Ohta
Kazuhide
K
Kasahara
Yoshihito
Y
Sano
Fumie
F
Kimura
Mitsuaki
M
Ikeno
Mitsuru
M
Koizumi
Shoichi
S
Yachie
Akihiro
A
D019002:CD56 Antigen / Q000276:immunology*; D005260:Female; D006801:Humans; D007150:Immunohistochemistry; D007223:Infant; D007231:Infant, Newborn; D007694:Killer Cells, Natural / Q000276:immunology*; D008297:Male; D010375:Pedigree; D017452:Receptors, IgG / Q000276:immunology*; D016511:Severe Combined Immunodeficiency / Q000276:immunology*; D013577:Syndrome
D019002:CD56 Antigen; D017452:Receptors, IgG