SCID ? An Autopsy Report and Short Review
Journal: International Journal of Science and Research (IJSR) (Vol.4, No. 4)Publication Date: 2015-04-05
Authors : Ashokkumar Raghupathy;
Page : 2551-2553
Keywords : SCID; primary immunodeficiency; ADA deficiency; autopsy;
Abstract
Severe combined immunodeficiency (SCID) is a rare and fatal primary immunodeficiency disorder characterized by marked deficiency of both B and T lymphocytes. Hereby reporting a case of a six month old girl who presented with recurrent respiratory infections and not responding to antibiotics. Hematological investigations revealed pancytopenia and immature cells were not seen. The child had a progressive downhill course and died of septic shock with disseminated intravascular coagulation. Autopsy was requested and found to have severe lymphoid depletion with absence of both B and T cells in lymph nodes, spleen, and appendix. After detailed immunohistochemical study, a diagnosis of SCID was rendered. This autopsy workup highlights the importance of recognition and early diagnosis of this rare disorder, so that bone marrow transplantation may be offered early in life. Genetic analysis is necessary wherever possible, to detect the specific mutation in order to offer prenatal genetic counselling to the family.
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