Severe combined immunodeficiency syndrome with RAG1 mutation gene - case report
© Lima et al; licensee BioMed Central Ltd. 2015
Published: 8 April 2015
Reporting a case of Severe combined immunodeficiency syndrome with RAG1 mutation gene.
Analysis of medical records was conducted to obtain detailed clinical history.
ACOA, 3 months, female, born cesarean with 38 weeks. She had the following vaccines: BCG, hepatitis B, VIP / VOP, tetravalent rotavirus, pneumococcus and menigococo. The patient had daily fever for 4 days, oliguria, dyspnea, and diarrhea with severe septic shock and respiratory failure. The patient remained hospitalized in intensive care for 50 days with tracheal intubation for 23 days. When she was 2 months old was hospitalized for 10 days with septic shock. Requested tests: CBC showing lymphopenia ( 855), positive Rotavirus, hipogamoglubulinemia ( IgG 143, IgM 9.7, IgA 26), absence of thymus chest radiography and immunophenotyping with amendment (Lymphocyte T - CD45/CD3 = 60 cells/mm3, CD45/CD3/CD4 = 55celulas/mm3, CD45/CD3/CDCD8 = 5 cells/mm3, CD4/CD8 ratio = 11.00, B lymphocyte - CD45/CD19 celula/mm3 = 1, NK-cells - CD45 / CD3-/CD16 + / CD56 + = 89 cells/mm3).The results of these tests made the diagnosis of severe combined immunodeficiency syndrome (T-B-NK +)(SCID) associated with homozygous mutation in the RAG-1 gene by sequencing of SCID panel ,therapy was initiated with cefepime trimethoprim-sulfamethoxazole, rifampin, isoniazid, ethambutol, pyridoxine, fluconazole,zinc e PRBC. Initiate treatment with human gamma globulin 400mg/kg intravenously for 5 consecutive days and after this repeated doses with intervals 21/21 days. The evolution was favorable ,indicating bone marrow transplantation.
The Severe Combined Immunodeficiency is a pediatric emergency and it is necessary to increase the clinical suspicion due to a quickly evolution to the death when the treatment is not quickly started. The early diagnosis of the patient in this case results in a better prognosis.
Written informed consent was obtained from the patient for publication of this abstract and any accompanying images. A copy of the written consent is available for review by the Editor of this journal.
This article is published under license to BioMed Central Ltd. This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/4.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated.