Wasu KamchaisatianSuradej HongengSuwat Benjaponpitakวสุ กำชัยเสถียรสุรเดช หงส์อิงสุวัฒน์ เบญจพลพิทักษ์Mahidol University. Faculty of Medicine Ramathibodi Hospital. Department of Pediatrics2022-10-102022-10-102022-10-102010Ramathibodi Medical Journal. Vol. 33, No. 3 (Jul-Sep 2010), 225-2290125-3611 (Print)2651-0561 (Online)https://repository.li.mahidol.ac.th/handle/20.500.14594/79871Background: Severe combined immunodeficiency (SCID) is a rare, fatal syndrome with profound deficiencies of T and B cells function. Clinically, the patients have serious infection caused by bacterial, viral or opportunistic organisms. Exfoliative dermatitis is an uncommon manifestation induced by graft-versus-host disease (GVHD) from maternal lymphocytes. Objective: We report a case of SCID who presented with exfoliative dermatitis without evidence of GVHD. Case Report: A 7-month-old girl presented with exfoliative dermatitis since one month of age. She had oral candidiasis. pneumonia, chronic diarrhea and failure to thrive. She was found to have markedly low level of immunoglobulin G, A and M. T and B cells enumeration revealed CD4 cells, 13%, CD8 cells 1%, CD19 cells, 83% and CD16/56 cells, 3.8%. The lymphocyte proliferation to mitogen (phorbol myristate acetate) assay was poorly-responded. DNA typing analysis from her skin biopsy could not demonstratce the maternal DNA. She died from serious infection after starting bone marrow transplantation. The autopsy revealed severe depletion of both lymphoid and thymus gland with multinucleated giant cells and intracytoplasmic inclusion bodied in lung pathology. Conclusion: We have demonstrated a case of SCID presented with dermatosis, which did not induce by GVHD. The patient needed early recognition to prevent uncontrolled infection, leading to death unless immunological reconstruction was done.engMahidol UniversitySevere combined immunodeficiencyImmune deficiencySCIDPrimary immune deficiencyCase ReportDepartment of Pediatrics Faculty of Medicine Ramathibodi Hospital Mahidol University