Prominent dermal Langerhans cells in an Omenn syndrome patient with a novel mutation in the IL2RG gene. Issue 11 (27th August 2019)

• Record Type: Journal Article
• Authors: Ibusuki, Atsuko; Nishikawa, Takuro; Hiraki, Tsubasa; Okano, Tsubasa; Imai, Kohsuke; Kanegane, Hirokazu; Ohnishi, Hidenori; Kato, Zenichiro; Fujii, Kazuyasu; Tanimoto, Akihide; Kawano, Yoshifumi; Kanekura, Takuro
• Is Part Of: Journal of dermatology. Volume 46:Issue 11(2019)
• Page Start: 1019
• Page End: 1023
• Publication Date: 2019-08-27
• Subjects: autoimmunity -- dermal Langerhans cells -- IL2RG gene -- Omenn syndrome -- severe combined immunodeficiency; Dermatology -- Periodicals; Dermatology -- Japan -- Periodicals; Skin -- Diseases -- Periodicals; 616.5005
• DOI: 10.1111/1346-8138.15054
• Languages: English
• ISSNs: 0385-2407

Abstract

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 T low 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.