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Clinical, Immunological, and Molecular Features of Severe Combined Immune Deficiency: A Multi-Institutional Experience From India

BACKGROUND: Severe Combined Immune Deficiency (SCID) is an inherited defect in lymphocyte development and function that results in life-threatening opportunistic infections in early infancy. Data on SCID from developing countries are scarce. OBJECTIVE: To describe clinical and laboratory features of...

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Autores principales: Vignesh, Pandiarajan, Rawat, Amit, Kumrah, Rajni, Singh, Ankita, Gummadi, Anjani, Sharma, Madhubala, Kaur, Anit, Nameirakpam, Johnson, Jindal, Ankur, Suri, Deepti, Gupta, Anju, Khadwal, Alka, Saikia, Biman, Minz, Ranjana Walker, Sharma, Kaushal, Desai, Mukesh, Taur, Prasad, Gowri, Vijaya, Pandrowala, Ambreen, Dalvi, Aparna, Jodhawat, Neha, Kambli, Priyanka, Madkaikar, Manisha Rajan, Bhattad, Sagar, Ramprakash, Stalin, CP, Raghuram, Jayaram, Ananthvikas, Sivasankaran, Meena, Munirathnam, Deenadayalan, Balaji, Sarath, Rajendran, Aruna, Aggarwal, Amita, Singh, Komal, Na, Fouzia, George, Biju, Mehta, Ankit, Lashkari, Harsha Prasada, Uppuluri, Ramya, Raj, Revathi, Bartakke, Sandip, Gupta, Kirti, Sreedharanunni, Sreejesh, Ogura, Yumi, Kato, Tamaki, Imai, Kohsuke, Chan, Koon Wing, Leung, Daniel, Ohara, Osamu, Nonoyama, Shigeaki, Hershfield, Michael, Lau, Yu-Lung, Singh, Surjit
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7897653/
https://www.ncbi.nlm.nih.gov/pubmed/33628209
http://dx.doi.org/10.3389/fimmu.2020.619146
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author Vignesh, Pandiarajan
Rawat, Amit
Kumrah, Rajni
Singh, Ankita
Gummadi, Anjani
Sharma, Madhubala
Kaur, Anit
Nameirakpam, Johnson
Jindal, Ankur
Suri, Deepti
Gupta, Anju
Khadwal, Alka
Saikia, Biman
Minz, Ranjana Walker
Sharma, Kaushal
Desai, Mukesh
Taur, Prasad
Gowri, Vijaya
Pandrowala, Ambreen
Dalvi, Aparna
Jodhawat, Neha
Kambli, Priyanka
Madkaikar, Manisha Rajan
Bhattad, Sagar
Ramprakash, Stalin
CP, Raghuram
Jayaram, Ananthvikas
Sivasankaran, Meena
Munirathnam, Deenadayalan
Balaji, Sarath
Rajendran, Aruna
Aggarwal, Amita
Singh, Komal
Na, Fouzia
George, Biju
Mehta, Ankit
Lashkari, Harsha Prasada
Uppuluri, Ramya
Raj, Revathi
Bartakke, Sandip
Gupta, Kirti
Sreedharanunni, Sreejesh
Ogura, Yumi
Kato, Tamaki
Imai, Kohsuke
Chan, Koon Wing
Leung, Daniel
Ohara, Osamu
Nonoyama, Shigeaki
Hershfield, Michael
Lau, Yu-Lung
Singh, Surjit
author_facet Vignesh, Pandiarajan
Rawat, Amit
Kumrah, Rajni
Singh, Ankita
Gummadi, Anjani
Sharma, Madhubala
Kaur, Anit
Nameirakpam, Johnson
Jindal, Ankur
Suri, Deepti
Gupta, Anju
Khadwal, Alka
Saikia, Biman
Minz, Ranjana Walker
Sharma, Kaushal
Desai, Mukesh
Taur, Prasad
Gowri, Vijaya
Pandrowala, Ambreen
Dalvi, Aparna
Jodhawat, Neha
Kambli, Priyanka
Madkaikar, Manisha Rajan
Bhattad, Sagar
Ramprakash, Stalin
CP, Raghuram
Jayaram, Ananthvikas
Sivasankaran, Meena
Munirathnam, Deenadayalan
Balaji, Sarath
Rajendran, Aruna
Aggarwal, Amita
Singh, Komal
Na, Fouzia
George, Biju
Mehta, Ankit
Lashkari, Harsha Prasada
Uppuluri, Ramya
Raj, Revathi
Bartakke, Sandip
Gupta, Kirti
Sreedharanunni, Sreejesh
Ogura, Yumi
Kato, Tamaki
Imai, Kohsuke
Chan, Koon Wing
Leung, Daniel
Ohara, Osamu
Nonoyama, Shigeaki
Hershfield, Michael
Lau, Yu-Lung
Singh, Surjit
author_sort Vignesh, Pandiarajan
collection PubMed
description BACKGROUND: Severe Combined Immune Deficiency (SCID) is an inherited defect in lymphocyte development and function that results in life-threatening opportunistic infections in early infancy. Data on SCID from developing countries are scarce. OBJECTIVE: To describe clinical and laboratory features of SCID diagnosed at immunology centers across India. METHODS: A detailed case proforma in an Excel format was prepared by one of the authors (PV) and was sent to centers in India that care for patients with primary immunodeficiency diseases. We collated clinical, laboratory, and molecular details of patients with clinical profile suggestive of SCID and their outcomes. Twelve (12) centers provided necessary details which were then compiled and analyzed. Diagnosis of SCID/combined immune deficiency (CID) was based on 2018 European Society for Immunodeficiencies working definition for SCID. RESULTS: We obtained data on 277 children; 254 were categorized as SCID and 23 as CID. Male-female ratio was 196:81. Median (inter-quartile range) age of onset of clinical symptoms and diagnosis was 2.5 months (1, 5) and 5 months (3.5, 8), respectively. Molecular diagnosis was obtained in 162 patients - IL2RG (36), RAG1 (26), ADA (19), RAG2 (17), JAK3 (15), DCLRE1C (13), IL7RA (9), PNP (3), RFXAP (3), CIITA (2), RFXANK (2), NHEJ1 (2), CD3E (2), CD3D (2), RFX5 (2), ZAP70 (2), STK4 (1), CORO1A (1), STIM1 (1), PRKDC (1), AK2 (1), DOCK2 (1), and SP100 (1). Only 23 children (8.3%) received hematopoietic stem cell transplantation (HSCT). Of these, 11 are doing well post-HSCT. Mortality was recorded in 210 children (75.8%). CONCLUSION: We document an exponential rise in number of cases diagnosed to have SCID over the last 10 years, probably as a result of increasing awareness and improvement in diagnostic facilities at various centers in India. We suspect that these numbers are just the tip of the iceberg. Majority of patients with SCID in India are probably not being recognized and diagnosed at present. Newborn screening for SCID is the need of the hour. Easy access to pediatric HSCT services would ensure that these patients are offered HSCT at an early age.
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spelling pubmed-78976532021-02-23 Clinical, Immunological, and Molecular Features of Severe Combined Immune Deficiency: A Multi-Institutional Experience From India Vignesh, Pandiarajan Rawat, Amit Kumrah, Rajni Singh, Ankita Gummadi, Anjani Sharma, Madhubala Kaur, Anit Nameirakpam, Johnson Jindal, Ankur Suri, Deepti Gupta, Anju Khadwal, Alka Saikia, Biman Minz, Ranjana Walker Sharma, Kaushal Desai, Mukesh Taur, Prasad Gowri, Vijaya Pandrowala, Ambreen Dalvi, Aparna Jodhawat, Neha Kambli, Priyanka Madkaikar, Manisha Rajan Bhattad, Sagar Ramprakash, Stalin CP, Raghuram Jayaram, Ananthvikas Sivasankaran, Meena Munirathnam, Deenadayalan Balaji, Sarath Rajendran, Aruna Aggarwal, Amita Singh, Komal Na, Fouzia George, Biju Mehta, Ankit Lashkari, Harsha Prasada Uppuluri, Ramya Raj, Revathi Bartakke, Sandip Gupta, Kirti Sreedharanunni, Sreejesh Ogura, Yumi Kato, Tamaki Imai, Kohsuke Chan, Koon Wing Leung, Daniel Ohara, Osamu Nonoyama, Shigeaki Hershfield, Michael Lau, Yu-Lung Singh, Surjit Front Immunol Immunology BACKGROUND: Severe Combined Immune Deficiency (SCID) is an inherited defect in lymphocyte development and function that results in life-threatening opportunistic infections in early infancy. Data on SCID from developing countries are scarce. OBJECTIVE: To describe clinical and laboratory features of SCID diagnosed at immunology centers across India. METHODS: A detailed case proforma in an Excel format was prepared by one of the authors (PV) and was sent to centers in India that care for patients with primary immunodeficiency diseases. We collated clinical, laboratory, and molecular details of patients with clinical profile suggestive of SCID and their outcomes. Twelve (12) centers provided necessary details which were then compiled and analyzed. Diagnosis of SCID/combined immune deficiency (CID) was based on 2018 European Society for Immunodeficiencies working definition for SCID. RESULTS: We obtained data on 277 children; 254 were categorized as SCID and 23 as CID. Male-female ratio was 196:81. Median (inter-quartile range) age of onset of clinical symptoms and diagnosis was 2.5 months (1, 5) and 5 months (3.5, 8), respectively. Molecular diagnosis was obtained in 162 patients - IL2RG (36), RAG1 (26), ADA (19), RAG2 (17), JAK3 (15), DCLRE1C (13), IL7RA (9), PNP (3), RFXAP (3), CIITA (2), RFXANK (2), NHEJ1 (2), CD3E (2), CD3D (2), RFX5 (2), ZAP70 (2), STK4 (1), CORO1A (1), STIM1 (1), PRKDC (1), AK2 (1), DOCK2 (1), and SP100 (1). Only 23 children (8.3%) received hematopoietic stem cell transplantation (HSCT). Of these, 11 are doing well post-HSCT. Mortality was recorded in 210 children (75.8%). CONCLUSION: We document an exponential rise in number of cases diagnosed to have SCID over the last 10 years, probably as a result of increasing awareness and improvement in diagnostic facilities at various centers in India. We suspect that these numbers are just the tip of the iceberg. Majority of patients with SCID in India are probably not being recognized and diagnosed at present. Newborn screening for SCID is the need of the hour. Easy access to pediatric HSCT services would ensure that these patients are offered HSCT at an early age. Frontiers Media S.A. 2021-02-08 /pmc/articles/PMC7897653/ /pubmed/33628209 http://dx.doi.org/10.3389/fimmu.2020.619146 Text en Copyright © 2021 Vignesh, Rawat, Kumrah, Singh, Gummadi, Sharma, Kaur, Nameirakpam, Jindal, Suri, Gupta, Khadwal, Saikia, Minz, Sharma, Desai, Taur, Gowri, Pandrowala, Dalvi, Jodhawat, Kambli, Madkaikar, Bhattad, Ramprakash, CP, Jayaram, Sivasankaran, Munirathnam, Balaji, Rajendran, Aggarwal, Singh, Na, George, Mehta, Lashkari, Uppuluri, Raj, Bartakke, Gupta, Sreedharanunni, Ogura, Kato, Imai, Chan, Leung, Ohara, Nonoyama, Hershfield, Lau and Singh http://creativecommons.org/licenses/by/4.0/ This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
spellingShingle Immunology
Vignesh, Pandiarajan
Rawat, Amit
Kumrah, Rajni
Singh, Ankita
Gummadi, Anjani
Sharma, Madhubala
Kaur, Anit
Nameirakpam, Johnson
Jindal, Ankur
Suri, Deepti
Gupta, Anju
Khadwal, Alka
Saikia, Biman
Minz, Ranjana Walker
Sharma, Kaushal
Desai, Mukesh
Taur, Prasad
Gowri, Vijaya
Pandrowala, Ambreen
Dalvi, Aparna
Jodhawat, Neha
Kambli, Priyanka
Madkaikar, Manisha Rajan
Bhattad, Sagar
Ramprakash, Stalin
CP, Raghuram
Jayaram, Ananthvikas
Sivasankaran, Meena
Munirathnam, Deenadayalan
Balaji, Sarath
Rajendran, Aruna
Aggarwal, Amita
Singh, Komal
Na, Fouzia
George, Biju
Mehta, Ankit
Lashkari, Harsha Prasada
Uppuluri, Ramya
Raj, Revathi
Bartakke, Sandip
Gupta, Kirti
Sreedharanunni, Sreejesh
Ogura, Yumi
Kato, Tamaki
Imai, Kohsuke
Chan, Koon Wing
Leung, Daniel
Ohara, Osamu
Nonoyama, Shigeaki
Hershfield, Michael
Lau, Yu-Lung
Singh, Surjit
Clinical, Immunological, and Molecular Features of Severe Combined Immune Deficiency: A Multi-Institutional Experience From India
title Clinical, Immunological, and Molecular Features of Severe Combined Immune Deficiency: A Multi-Institutional Experience From India
title_full Clinical, Immunological, and Molecular Features of Severe Combined Immune Deficiency: A Multi-Institutional Experience From India
title_fullStr Clinical, Immunological, and Molecular Features of Severe Combined Immune Deficiency: A Multi-Institutional Experience From India
title_full_unstemmed Clinical, Immunological, and Molecular Features of Severe Combined Immune Deficiency: A Multi-Institutional Experience From India
title_short Clinical, Immunological, and Molecular Features of Severe Combined Immune Deficiency: A Multi-Institutional Experience From India
title_sort clinical, immunological, and molecular features of severe combined immune deficiency: a multi-institutional experience from india
topic Immunology
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7897653/
https://www.ncbi.nlm.nih.gov/pubmed/33628209
http://dx.doi.org/10.3389/fimmu.2020.619146
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