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Clinical and Genetic Spectrum of Inborn Errors of Immunity in a Tertiary Care Center in Southern India.
Lashkari, Harsha Prasada; Madkaikar, Manisha; Dalvi, Aparna; Gupta, Maya; Bustamante, Jacinta; Sharma, Madhubala; Rawat, Amit; Bhatia, Prateek; Bhat, Kamalakshi G; Rao, Sadashiva; Kamath, Nutan; Moideen, Faheem; Latour, Sylvain; Winter, Sarah; Bhavani, Gandham SriLakshmi; Girisha, Katta M.
Afiliación
  • Lashkari HP; Department of Pediatrics, Kasturba Medical College, Mangalore, Manipal Academy of Higher Education, Manipal, Karnataka, 575001, India. Harsha.pl@manipal.edu.
  • Madkaikar M; ICMR-National Institute of Immunohematology, KEM Hospital, Parel, Mumbai, Maharashtra, India.
  • Dalvi A; ICMR-National Institute of Immunohematology, KEM Hospital, Parel, Mumbai, Maharashtra, India.
  • Gupta M; ICMR-National Institute of Immunohematology, KEM Hospital, Parel, Mumbai, Maharashtra, India.
  • Bustamante J; Génétique Humaine Des Maladies Infectieuses/Human Genetics of Infectious Diseases, INSERM UMR 1163, Université de Paris, Institut Imagine, Paris, France.
  • Sharma M; Pediatric Allergy Immunology Unit, Department of Pediatrics, Advanced Pediatrics Center, Postgraduate Institute of Medical Education & Research, Chandigarh, India.
  • Rawat A; Pediatric Allergy Immunology Unit, Department of Pediatrics, Advanced Pediatrics Center, Postgraduate Institute of Medical Education & Research, Chandigarh, India.
  • Bhatia P; Pediatric Hematology & Pediatric Molecular Hematology Laboratory, Pediatric Hematology-Oncology Unit, Department of Pediatrics, Advanced Pediatrics Center, PGIMER, Chandigarh, India.
  • Bhat KG; Department of Pediatrics, Kasturba Medical College, Mangalore, Manipal Academy of Higher Education, Manipal, Karnataka, 575001, India.
  • Rao S; Department of Pediatric Surgery, Kasturba Medical College, Mangalore, Manipal Academy of Higher Education, Manipal, Karnataka, India.
  • Kamath N; Department of Pediatrics, Kasturba Medical College, Mangalore, Manipal Academy of Higher Education, Manipal, Karnataka, 575001, India.
  • Moideen F; Department of Pediatrics, Kasturba Medical College, Mangalore, Manipal Academy of Higher Education, Manipal, Karnataka, 575001, India.
  • Latour S; Laboratory of Lymphocyte Activation and Susceptibility to EBV Infection, INSERM UMR 1163, Imagine Institute, Paris, France.
  • Winter S; Laboratory of Lymphocyte Activation and Susceptibility to EBV Infection, INSERM UMR 1163, Imagine Institute, Paris, France.
  • Bhavani GS; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, Karnataka, India.
  • Girisha KM; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, Karnataka, India.
Indian J Pediatr ; 89(3): 233-242, 2022 Mar.
Article en En | MEDLINE | ID: mdl-34826056
OBJECTIVES: To study the incidence, clinical manifestations, and genetic spectrum of primary immunodeficiency diseases (PID)/inborn errors of immunity (IEI) in a tertiary care hospital in Southern India. METHODS: A retrospective analysis of all patients with a clinical suspicion of PID/IEI seen at a tertiary care hospital was performed. All patients had at least one or more warning signs of PID. Serum immunoglobulin levels and other targeted investigations were performed as warranted by the clinical presentation. All families with suspected PID were counseled and offered genetic testing. RESULTS: A total of 225 children were evaluated for PID during the study period of 6 y. Fifty-six of them did not meet the European Society of Immunodeficiencies (ESID) criteria (working definition of clinical diagnosis) and were excluded. An IEI was found in 30/49 (61.2%) patients. The most frequent reason for referral was recurrent/unusual or serious infections (28%), or cytopenia (16%). Group IV diseases of immune dysregulation was the most common category (19%), followed by group III predominant antibody deficiencies in 23/163 (14%), as per the International Union of Immunological Societies (IUIS) classification. CONCLUSIONS: This study highlights the heterogeneity of the present cohort, the underuse of genetic tests, and efforts to provide optimal care for children with possible IEI in this center.
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Enfermedades de Inmunodeficiencia Primaria / Síndromes de Inmunodeficiencia Tipo de estudio: Diagnostic_studies / Observational_studies / Risk_factors_studies Límite: Child / Humans País/Región como asunto: Asia Idioma: En Revista: Indian J Pediatr Año: 2022 Tipo del documento: Article País de afiliación: India Pais de publicación: India
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Enfermedades de Inmunodeficiencia Primaria / Síndromes de Inmunodeficiencia Tipo de estudio: Diagnostic_studies / Observational_studies / Risk_factors_studies Límite: Child / Humans País/Región como asunto: Asia Idioma: En Revista: Indian J Pediatr Año: 2022 Tipo del documento: Article País de afiliación: India Pais de publicación: India