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: Fumie Shibata, Tomoko Toma, Taizo Wada, Masayuki Inoue, Yumi Tone, Kazuhide Ohta, Yoshihito Kasahara, Fumie Sano, Mitsuaki Kimura, Mitsuru Ikeno, Shoichi Koizumi, Akihiro Yachie
• Journal: European journal of haematology (Eur J Haematol) Vol. 79 Issue 1 Pg. 81-5 (Jul 2007) ISSN: 0902-4441 [Print] England
• PMID: 17598841 (Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)

Chemical References

• CD56 Antigen
• Receptors, IgG

Topics

• CD56 Antigen (immunology)
• Female
• Humans
• Immunohistochemistry
• Infant
• Infant, Newborn
• Killer Cells, Natural (immunology)
• Male
• Pedigree
• Receptors, IgG (immunology)
• Severe Combined Immunodeficiency (immunology)
• Syndrome