Severe Combined Immunodeficiency Disorder due to a Novel Mutation in Recombination Activation Gene 2: About 2 Cases
Severe combined immunodeficiency (SCID) comprises a heterogeneous group of inherited immunologic disorders with profound defects in cellular and humoral immunity. SCID is the most severe PID and constitutes a pediatric emergency. Affected children are highly susceptible to bacterial, viral, fungal,...
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| Main Authors: | , , , , , |
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| Format: | Article |
| Language: | English |
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Wiley
2021-01-01
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| Series: | Case Reports in Immunology |
| Online Access: | http://dx.doi.org/10.1155/2021/8819368 |
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| author | Ibtihal Benhsaien Fatima Ailal Khadija Elazhary Jalila El bakkouri Abdallah Badou Ahmed Aziz Bousfiha |
| author_facet | Ibtihal Benhsaien Fatima Ailal Khadija Elazhary Jalila El bakkouri Abdallah Badou Ahmed Aziz Bousfiha |
| author_sort | Ibtihal Benhsaien |
| collection | DOAJ |
| description | Severe combined immunodeficiency (SCID) comprises a heterogeneous group of inherited immunologic disorders with profound defects in cellular and humoral immunity. SCID is the most severe PID and constitutes a pediatric emergency. Affected children are highly susceptible to bacterial, viral, fungal, and opportunistic infections with life-threatening in the absence of hematopoietic stem cell transplantation. We report here two cases of SCID. The first case is a girl diagnosed with SCID at birth based on her family history and lymphocyte subpopulation typing. The second case is a 4-month-old boy with a history of recurrent opportunistic infections, BCGitis, and failure to thrive, and the immunology workup confirms a SCID phenotype. The genetic study in the two cases revealed a novel mutation in the RAG2 gene, c.826G > A (p.Gly276Ser), in a homozygous state. The novel mutation in the RAG2 gene identified in our study may help the early diagnosis of SCID. |
| format | Article |
| id | doaj-art-923819380d0e433ab74bc80e36b17b80 |
| institution | Kabale University |
| issn | 2090-6609 2090-6617 |
| language | English |
| publishDate | 2021-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Case Reports in Immunology |
| spelling | doaj-art-923819380d0e433ab74bc80e36b17b802025-02-03T01:09:56ZengWileyCase Reports in Immunology2090-66092090-66172021-01-01202110.1155/2021/88193688819368Severe Combined Immunodeficiency Disorder due to a Novel Mutation in Recombination Activation Gene 2: About 2 CasesIbtihal Benhsaien0Fatima Ailal1Khadija Elazhary2Jalila El bakkouri3Abdallah Badou4Ahmed Aziz Bousfiha5Clinical Immunology Unit, Infectious Disease Department; Children Hospital, IBN Rochd University Hospital, Casablanca, MoroccoClinical Immunology Unit, Infectious Disease Department; Children Hospital, IBN Rochd University Hospital, Casablanca, MoroccoCellular and Molecular Pathology Laboratory, Faculty of Medicine and Pharmacy of Casablanca, Hassan II University, Casablanca, MoroccoClinical Immunology, Autoimmunity and Inflammation Laboratory (LICIA), Faculty of Medicine and Pharmacy of Casablanca, Hassan II University, Casablanca, MoroccoCellular and Molecular Pathology Laboratory, Faculty of Medicine and Pharmacy of Casablanca, Hassan II University, Casablanca, MoroccoClinical Immunology Unit, Infectious Disease Department; Children Hospital, IBN Rochd University Hospital, Casablanca, MoroccoSevere combined immunodeficiency (SCID) comprises a heterogeneous group of inherited immunologic disorders with profound defects in cellular and humoral immunity. SCID is the most severe PID and constitutes a pediatric emergency. Affected children are highly susceptible to bacterial, viral, fungal, and opportunistic infections with life-threatening in the absence of hematopoietic stem cell transplantation. We report here two cases of SCID. The first case is a girl diagnosed with SCID at birth based on her family history and lymphocyte subpopulation typing. The second case is a 4-month-old boy with a history of recurrent opportunistic infections, BCGitis, and failure to thrive, and the immunology workup confirms a SCID phenotype. The genetic study in the two cases revealed a novel mutation in the RAG2 gene, c.826G > A (p.Gly276Ser), in a homozygous state. The novel mutation in the RAG2 gene identified in our study may help the early diagnosis of SCID.http://dx.doi.org/10.1155/2021/8819368 |
| spellingShingle | Ibtihal Benhsaien Fatima Ailal Khadija Elazhary Jalila El bakkouri Abdallah Badou Ahmed Aziz Bousfiha Severe Combined Immunodeficiency Disorder due to a Novel Mutation in Recombination Activation Gene 2: About 2 Cases Case Reports in Immunology |
| title | Severe Combined Immunodeficiency Disorder due to a Novel Mutation in Recombination Activation Gene 2: About 2 Cases |
| title_full | Severe Combined Immunodeficiency Disorder due to a Novel Mutation in Recombination Activation Gene 2: About 2 Cases |
| title_fullStr | Severe Combined Immunodeficiency Disorder due to a Novel Mutation in Recombination Activation Gene 2: About 2 Cases |
| title_full_unstemmed | Severe Combined Immunodeficiency Disorder due to a Novel Mutation in Recombination Activation Gene 2: About 2 Cases |
| title_short | Severe Combined Immunodeficiency Disorder due to a Novel Mutation in Recombination Activation Gene 2: About 2 Cases |
| title_sort | severe combined immunodeficiency disorder due to a novel mutation in recombination activation gene 2 about 2 cases |
| url | http://dx.doi.org/10.1155/2021/8819368 |
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