title: Skin infiltration of CD56(bright) CD16(-) natural killer cells in a case of X-SCID with Omenn syndrome-like manifestations.
abstract: 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.
authors.affiliation: Department of Pediatrics, Kanazawa University Graduate School of Medical Science, Kanazawa, Japan.
authors.forename: Fumie
authors.initials: F
authors.lastname: Shibata
authors.forename: Tomoko
authors.initials: T
authors.lastname: Toma
authors.forename: Taizo
authors.initials: T
authors.lastname: Wada
authors.forename: Masayuki
authors.initials: M
authors.lastname: Inoue
authors.forename: Yumi
authors.initials: Y
authors.lastname: Tone
authors.forename: Kazuhide
authors.initials: K
authors.lastname: Ohta
authors.forename: Yoshihito
authors.initials: Y
authors.lastname: Kasahara
authors.forename: Fumie
authors.initials: F
authors.lastname: Sano
authors.forename: Mitsuaki
authors.initials: M
authors.lastname: Kimura
authors.forename: Mitsuru
authors.initials: M
authors.lastname: Ikeno
authors.forename: Shoichi
authors.initials: S
authors.lastname: Koizumi
authors.forename: Akihiro
authors.initials: A
authors.lastname: Yachie
mesh_terms: 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
chemical_list: D019002:CD56 Antigen; D017452:Receptors, IgG