Clinical, Immunological, and Molecular Findings in 57 Patients With Severe Combined Immunodeficiency (SCID) From India.
AIDS-Related Opportunistic Infections
/ diagnosis
Age of Onset
Biomarkers
CD4-CD8 Ratio
Child, Preschool
Combined Modality Therapy
Disease Susceptibility
Female
Gene Expression Profiling
Genetic Variation
Humans
India
Infant
Infant, Newborn
Lymphocyte Count
Male
Severe Combined Immunodeficiency
/ diagnosis
Symptom Assessment
PID
TREC
flow cytometry
sanger sequencing
targeted next generation sequencing
Journal
Frontiers in immunology
ISSN: 1664-3224
Titre abrégé: Front Immunol
Pays: Switzerland
ID NLM: 101560960
Informations de publication
Date de publication:
2019
2019
Historique:
received:
19
10
2018
accepted:
07
01
2019
entrez:
20
2
2019
pubmed:
20
2
2019
medline:
21
12
2019
Statut:
epublish
Résumé
Severe combined immunodeficiency (SCID) represents one of the most severe forms of primary immunodeficiency (PID) disorders characterized by impaired cellular and humoral immune responses. Here, we report the clinical, immunological, and molecular findings in 57 patients diagnosed with SCID from India. Majority of our patients (89%) presented within 6 months of age. The most common clinical manifestations observed were recurrent pneumonia (66%), failure to thrive (60%), chronic diarrhea (35%), gastrointestinal infection (21%), and oral candidiasis (21%). Hematopoietic Stem Cell Transplantation (HSCT) is the only curative therapy available for treating these patients. Four patients underwent HSCT in our cohort but had a poor survival outcome. Lymphopenia (absolute lymphocyte counts/μL <2,500) was noted in 63% of the patients. Based on immunophenotypic pattern, majority of the cases were T
Identifiants
pubmed: 30778343
doi: 10.3389/fimmu.2019.00023
pmc: PMC6369708
doi:
Substances chimiques
Biomarkers
0
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
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