Skin infiltration of CD56(bright) CD16(-) natural killer cells in a case of X-SCID with Omenn syndrome-like manifestations.

Fumie Shibata, Tomoko Toma, Taizo Wada, Masayuki Inoue, Yumi Tone, Kazuhide Ohta, Yoshihito Kasahara, Fumie Sano, Mitsuaki Kimura, Mitsuru Ikeno, Shoichi Koizumi, Akihiro Yachie

Department of Pediatrics, Kanazawa University Graduate School of Medical Science, Kanazawa, Japan.

European journal of haematology 2007 Jul

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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.

Citation

Fumie Shibata, Tomoko Toma, Taizo Wada, Masayuki Inoue, Yumi Tone, Kazuhide Ohta, Yoshihito Kasahara, Fumie Sano, Mitsuaki Kimura, Mitsuru Ikeno, Shoichi Koizumi, Akihiro Yachie. Skin infiltration of CD56(bright) CD16(-) natural killer cells in a case of X-SCID with Omenn syndrome-like manifestations. European journal of haematology. 2007 Jul;79(1):81-5