Severe Combined Immunodeficiency—Classification, Microbiology Association and Treatment

Justiz-Vaillant, Angel A.; Gopaul, Darren; Akpaka, Patrick Eberechi; Soodeen, Sachin; Arozarena Fundora, Rodolfo

doi:10.3390/microorganisms11061589

Cited by 7 publications

(2 citation statements)

References 111 publications

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“…Additionally, the paper explores treatment strategies for SCID, which typically involve hematopoietic stem cell transplantation (HSCT) or gene therapy to restore immune function. The publication provides valuable insights into the classification, microbiological aspects, and therapeutic options for SCID, contributing to the understanding and management of this severe immunodeficiency disorder [84][85][86][87] .…”

Section: Severe Combined Immunodeficiency Disordersmentioning

confidence: 99%

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Advancements in Immunology and Microbiology Research: A Comprehensive Exploration of Key Areas and Global Impact

Justiz-Vaillant,

Gopaul,

Soodeen

et al. 2024

Preprint

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Immunology and microbiology research in the West Indies has witnessed remarkable growth and innovation, playing a pivotal role in advancing our understanding of immune mechanisms, disease pathogenesis, and therapeutic interventions. This manuscript presents a comprehensive exploration of key areas in West Indian immunology research, spanning from the utilization of bacterial proteins as antibody reagents to the intricate realms of clinical immunology and disease management. The utilization of bacterial immunoglobulin-binding proteins (IBPs), including protein A (SpA), protein G (SpG), and protein L (SpL), has revolutionised serological diagnostics in the region. promise in early disease detection and precision medicine. Microbiological studies in the Caribbean region have shed light on antimicrobial resistance patterns, particularly the emergence of extended-spectrum beta-lactamases (ESBLs), guiding antimicrobial stewardship programs and informing therapeutic strategies. Clinical immunology research has elucidated the molecular pathways underlying immune-mediated disorders, leading to tailored management strategies for conditions such as severe combined immunodeficiency (SCID), neuropsychiatric lupus erythematosus (NPLE), and others. In summary, West Indian immunology and microbiology research has made significant contributions to global healthcare, fostering collaboration, innovation, and improved patient outcomes.

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Section: Severe Combined Immunodeficiency Disordersmentioning

confidence: 99%

“…This review aims to provide a comprehensive understanding of the microorganisms associated with SCID and their management. It delineates SCID as a syndrome and outlines the diverse range of microorganisms affecting affected children, along with approaches for investigation and treatment [84].…”

Section: Severe Combined Immunodeficiency Disordersmentioning

confidence: 99%

Advancements in Immunology and Microbiology Research: A Comprehensive Exploration of Key Areas and Global Impact

Justiz-Vaillant,

Gopaul,

Soodeen

et al. 2024

Preprint

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Thymic microenvironment’s impact on immunosenescence

Li,

Xu,

Han

et al. 2024

Immunol Res

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Severe combined immunodeficiency diagnosis and genetic defects

Aranda,

Gouveia‐Pereira,

da Silva

et al. 2024

Immunological Reviews

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SummarySevere combined immunodeficiency (SCID) is a rare and life‐threatening genetic disorder that severely impairs the immune system's ability to defend the body against infections. Often referred to as the “bubble boy” disease, SCID gained widespread recognition due to the case of David Vetter, a young boy who lived in a sterile plastic bubble to protect him from germs. SCID is typically present at birth, and it results from genetic mutations that affect the development and function of immune cells, particularly T cells and B cells. These immune cells are essential for identifying and fighting off infections caused by viruses, bacteria, and fungi. In SCID patients, the immune system is virtually non‐existent, leaving them highly susceptible to recurrent, severe infections. There are several forms of SCID, with varying degrees of severity, but all share common features. Newborns with SCID often exhibit symptoms such as chronic diarrhea, thrush, skin rashes, and persistent infections that do not respond to standard treatments. Without prompt diagnosis and intervention, SCID can lead to life‐threatening complications and a high risk of mortality. There are over 20 possible affected genes. Treatment options for SCID primarily involve immune reconstitution, with the most well‐known approach being hematopoietic stem cell transplantation (HSCT). Alternatively, gene therapy is also available for some forms of SCID. Once treated successfully, SCID patients can lead relatively normal lives, but they may still require vigilant infection control measures and lifelong medical follow‐up to manage potential complications. In conclusion, severe combined immunodeficiency is a rare but life‐threatening genetic disorder that severely compromises the immune system's function, rendering affected individuals highly vulnerable to infections. Early diagnosis and appropriate treatment are fundamental. With this respect, newborn screening is progressively and dramatically improving the prognosis of SCID.

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Severe Combined Immunodeficiency—Classification, Microbiology Association and Treatment

Cited by 7 publications

References 111 publications

Advancements in Immunology and Microbiology Research: A Comprehensive Exploration of Key Areas and Global Impact

Advancements in Immunology and Microbiology Research: A Comprehensive Exploration of Key Areas and Global Impact

Thymic microenvironment’s impact on immunosenescence

Severe combined immunodeficiency diagnosis and genetic defects

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