Prominent dermal Langerhans cells in an Omenn syndrome patient with a novel mutation in the IL2RG gene.

Abstract

Prominent dermal infiltration by Langerhans cells (LC) is a rare finding in patients with Omenn syndrome (OS). Here, we report the case study of a 7-month-old boy with OS and with prominent dermal infiltration by LC, which is a rare histological manifestation of the skin. Striking erythroderma appeared in the patient 2 weeks after birth. We also noted alopecia, lymphadenopathy, hepatosplenomegaly, eosinophilia and an elevated serum immunoglobulin E level with hypogammaglobulinemia. Peripheral blood flow cytometry showed the Tlow NK+ B+ immunophenotype and genetic analysis, a novel mutation in the IL2RG gene (c.337_339delTCT, p.Ser113del). The final diagnosis was that of OS. He responded well to an allograft umbilical cord blood transplantation that was performed when the patient was 8 months of age. We speculate that the LC accumulated in the dermis will eventually migrate to the regional lymph node, then stimulate autoreactive T cells by overpresenting antigens, thus causing OS-specific skin symptoms.

• Authors: Atsuko Ibusuki, Takuro Nishikawa, Tsubasa Hiraki, Tsubasa Okano, Kohsuke Imai, Hirokazu Kanegane, Hidenori Ohnishi, Zenichiro Kato, Kazuyasu Fujii, Akihide Tanimoto, Yoshifumi Kawano, Takuro Kanekura
• Journal: The Journal of dermatology (J Dermatol) Vol. 46 Issue 11 Pg. 1019-1023 (Nov 2019) ISSN: 1346-8138 [Electronic] England
• PMID: 31456262 (Publication Type: Case Reports, Journal Article)
• Copyright: © 2019 Japanese Dermatological Association.

Chemical References

• IL2RG protein, human
• Interleukin Receptor Common gamma Subunit

Topics

• Biopsy
• Cord Blood Stem Cell Transplantation
• Dermis (immunology, pathology)
• Humans
• Infant
• Interleukin Receptor Common gamma Subunit (genetics)
• Langerhans Cells (pathology)
• Male
• Mutation
• Severe Combined Immunodeficiency (genetics, immunology, pathology, surgery)