Primary immunodeficiencies in India: a perspective

Gupta, Sudhir; Madkaikar, Manisha; Singh, Surjit; Sehgal, S

doi:10.1111/j.1749-6632.2011.06353.x

Cited by 45 publications

(28 citation statements)

References 2 publications

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“…This is in keeping with results in Europe [29], Turkey [31], Iran [32] Japan [33] and a center in India [34]. Other centers in India report immune dysregulation and B and T cell disorders [30], and immune dysregulation and phagocytic disorders [35] as the commonest PID.…”

Section: Discussionsupporting

confidence: 84%

Spectrum of primary immunodeficiency disorders in Sri Lanka

Silva

Gunawardena

Rathnayake

et al. 2013

All Asth Clin Immun

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BackgroundWhile primary immunodeficiencies (PID has been recognized in the west for decades, recognition has been delayed in the third world. This study attempts to detail the spectrum of PID, the therapy provided, and constraints in the diagnosis and treatment in a middle income country such as Sri Lanka.MethodsNine hundred and forty two patients with recurrent infections and features suggestive of immune deficiency, referred from the entire country in a 4 year period, to the sole immunology unit in Sri Lanka were included. The following tests were performed. Full blood counts, serum Immunoglobulin and complement C3 and C4 levels, functional antibody levels, enumeration of lymphocyte subsets, in vitro and in vivo T cell functional assays,, nitroblue tetrazolium assay to diagnose chronic granulomatous disease, hair shaft assay to diagnose Griscelli syndrome. Sequencing of the common gamma chain to identify x linked severe combined immune deficiency, and X linked agammaglobulinemia was confirmed by assaying for Btk mutations by single sequence conformation polymorphism. HIV/AIDS was excluded in all patients.ResultsSeventy three patients were diagnosed with a primary immune deficiency. The majority (60.27%) had antibody deficiency. Common variable immune deficiency was the commonest (28.76%), followed by X linked agammaglobulinemia (XLA) (20.54%). Five patients had possible hyper IgM syndrome.Ten patients had severe combined immune deficiency (SCID), including 2 with x linked SCID, in addition to DiGeorge syndrome (2), ataxia telangiectasia (6), autosomal dominant hyper IgE syndrome (2), chronic granulomatous disease (4), leucocyte adhesion deficiency type 1 (2) and Griscelli syndrome (3).Patients with autoinflammatory, innate immune and complement defects could not be identified due to lack of facilities.ConclusionsAntibody deficiency is the commonest PID, as in the west.IgA deficiency is rare. Autoinflammatory diseases, innate immune and complement deficiencies could not be identified due to lack of diagnostic facilities. Lack of awareness of PID among adult physicians result in delay in treatment of adult patients. While treatment of antibody deficiencies provided in state hospitals has extended life expectancy, there is no treatment available for severe T cell defects.

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Section: Discussionsupporting

confidence: 84%

Spectrum of primary immunodeficiency disorders in Sri Lanka

Silva

Gunawardena

Rathnayake

et al. 2013

All Asth Clin Immun

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“…Evaluation of such patients is a difficult task in a developing country like India. Very few studies have been published from India on primary immunodeficiency [5]. Major efforts are necessary to create a registry and to determine the incidence of PID in India.…”

Section: Discussionmentioning

confidence: 97%

Disseminated Mycobacterium avium Complex Infection in a Child with Partial Dominant Interferon Gamma Receptor 1 Deficiency in India

et al. 2015

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Mendelian susceptibility to mycobacterial disease (MSMD) is a rare condition characterized by clinical disease caused by weakly virulent mycobacteria. All genes mutated in MSMD patients are involved in IFN-γ immunity. Autosomal partial dominant (PD) interferon-γ receptor 1 (IFN-γR1) deficiency is the most frequent abnormality affecting the group of MSMD patients leading to impaired response of IFN-γ. We describe here a patient from India with disseminated infection due to Mycobacterium avium intracellulare (MAC) including multifocal osteomyelitis and BCG disease. A heterozygous mutation in exon 6 of IFNGR1 gene was identified, conferring an autosomal PD IFN-γR1 deficiency. Patient had recurrence of mycobacterial disease during antibiotic therapy for which subcutaneous IFN-γ was added as a modality of treatment for resistant MAC infection.

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“…Since then several cases of PIDs have been reported from Postgraduate Institute of Medical Education and Research (PGIMER), Chandigarh and many other institutions across the country; however, the diagnosis was largely clinical and the immunological workup rather limited. Prior to 1992 (between 1975 and 1991), 59 cases of PIDs had been diagnosed in the country (5). Gupta et al published their experience of the spectrum of PIDs seen at two large pediatric centers in the country [Advanced Pediatrics Centre, PGIMER, Chandigarh and the National Institute of Immunohaematology (NIIH) and B.J.…”

Section: Status Of Pids In India Prior To 2011mentioning

confidence: 99%

“…Gupta et al published their experience of the spectrum of PIDs seen at two large pediatric centers in the country [Advanced Pediatrics Centre, PGIMER, Chandigarh and the National Institute of Immunohaematology (NIIH) and B.J. Wadia Children’s Hospital, Mumbai] and highlighted the difficulties in identification, evaluation (including molecular diagnosis) and management of these patients (5). The data were collected from 1992 onward.…”

Section: Status Of Pids In India Prior To 2011mentioning

confidence: 99%

“…Although there are no nationwide data on prevalence of PIDs in India, based on statistical projections it is estimated that the number of patients with PID is likely to be more than one million (4, 5). Hitherto, there was also paucity of published literature about PIDs from India as very few centers in the country had the clinical experience, laboratory facilities, and technical wherewithal for diagnosis and management of these conditions.…”

Section: Introductionmentioning

confidence: 99%

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Primary Immunodeficiency Disorders in India—A Situational Review

et al. 2017

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Primary immunodeficiency disorders (PIDs) are a group of genetic defects characterized by abnormalities of one or more components of the immune system. While there have been several advances in diagnosis, management, and research in the field of PIDs, they continue to remain underdiagnosed, especially in the less affluent countries. Despite several limitations and challenges, India has advanced significantly in the field of PIDs in the last few years. In this review, we highlight the progress in the field of PIDs in India over the last 25 years, the difficulties faced by clinicians across the country, the current state of PIDs in India and the future prospects.

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Primary immunodeficiencies in India: a perspective

Cited by 45 publications

References 2 publications

Spectrum of primary immunodeficiency disorders in Sri Lanka

Spectrum of primary immunodeficiency disorders in Sri Lanka

Disseminated Mycobacterium avium Complex Infection in a Child with Partial Dominant Interferon Gamma Receptor 1 Deficiency in India

Primary Immunodeficiency Disorders in India—A Situational Review

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