Research Topic

Advances in Primary Immunodeficiencies in India

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The first Primary Immunodeficiency Disease (PID) was described in 1952 and for almost four decades, only a small number of PIDs were described and classified into five major categories. In the last two decades, there has been a rapid progression in defining PIDs using molecular techniques including ...

The first Primary Immunodeficiency Disease (PID) was described in 1952 and for almost four decades, only a small number of PIDs were described and classified into five major categories. In the last two decades, there has been a rapid progression in defining PIDs using molecular techniques including whole-exome sequencing, next-generation sequencing, and whole-genome sequencing. As a consequence, there are now more than 430 PIDs and more than 400 gene mutations described and classified in 10 different categories. India became the first country to perform prenatal diagnosis for a wide spectrum of PIDs including SCID, XLA, HLH, WAS, CGD, MSMD, and autoinflammatory diseases. Several institutions and few commercial laboratories have started performing molecular diagnosis of PID and in the last 10 years, a number of institutions performing Hematopoietic Stem Cell Transplantation (HSCT) for PID have grown from a single institution to more than 10 institutions.

The primary aim of this Research Topic is to consolidate and bring new updates on important information on the clinical spectrum, molecular defects and therapeutic interventions in different inborn errors of immunity that are commonly observed in India. We are particularly interested in molecular data obtained from large cohorts of patients with PIDs and the use of HSCT for the treatment of PIDs. Additionally, studies focusing on the impact of consanguinity on PIDs are welcome. Besides giving vital information about PIDs in India, this Research Topic aims at giving future directions for expanding the facilities for diagnosis and management of PIDs.

We welcome authors to submit Review, Original Research, and Method articles related to primary immune deficiencies in India. Comprehensive data on PIDs across the country will be greatly appreciated including molecular defects in PID, diagnostic achievement and new methods for diagnosis as well as clinical characteristics of different PID and region-specific PID are highly welcome We welcome submissions related to the following topics:

1. Mendelian susceptibility to mycobacterial diseases in India.
2. Spectrum of SCID in India: Phenotypes and challenges in diagnosis.
3. Spectrum of Antibody deficiencies with special emphasis on XLA.
4. Hemophagocytic lymphohistiocytosis: diagnosis and management.
5. Progress and Challenges in HSCT in PID in India.
6. Neutrophil Disorders including Chronic Granulomatous Disease and Leukocyte Adhesion Deficiencies
7. Progress in understanding the spectrum of HIES in India.
8. Phenotypes and Genotypes of Wiscott Aldrich Syndrome.
9. Autoinflammatory Disorders


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