Primary Immunodeficiency Disorders in India—A Situational Review

Jindal, Ankur Kumar; Pilania, Rakesh Kumar; Rawat, Amit; Singh, Surjit

doi:10.3389/fimmu.2017.00714

Cited by 43 publications

(36 citation statements)

References 25 publications

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“…(Gray color represents countries without registry or without appropriate report). (17.1%), Among patients molecular diagnosis was observed in 40.2% and parental consanguinity was recorded in 19.4%[34][35][36].During the last decade, other Asian PID cohorts have been reported containing fewer patients each. Al-Herz et al in 2019, published a registry report of 314 PID patients in Kuwait with the highest genetically solved rate of 69.1% with 78.0% paternal consanguinity (prevalence of PID 20.2 in 100000, predominantly antibody immunodeficiency of 17.8%)[37][38][39].…”

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confidence: 99%

Global systematic review of primary immunodeficiency registries

Abolhassani

Azizi

Sharifi

et al. 2020

Expert Review of Clinical Immunology

102

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Introduction: During the last 4 decades, registration of patients with primary immunodeficiencies (PID) has played an essential role in different aspects of these diseases worldwide including epidemiological indexes, policymaking, quality controls of care/life, facilitation of genetic studies and clinical trials as well as improving our understanding about the natural history of the disease and the immune system function. However, due to the limitation of sustainable resources supporting these registries, inconsistency in diagnostic criteria and lack of molecular diagnosis as well as difficulties in the documentation and designing any universal platform, the global perspective of these diseases remains unclear. Areas covered: Published and unpublished studies from January 1981 to June 2020 were systematically reviewed on PubMed, Web of Science and Scopus. Additionally, the reference list of all studies was hand-searched for additional studies. This effort identified a total of 104614 registered patients and suggests identification of at least 10590 additional PID patients, mainly from countries located in Asia and Africa. Molecular defects in genes known to cause PID were identified and reported in 13852 (13.2% of all registered) patients. Expert opinion: Although these data suggest some progress in the identification and documentation of PID patients worldwide, achieving the basic requirement for the global PID burden estimation and registration of undiagnosed patients will require more reinforcement of the progress, involving both improved diagnostic facilities and neonatal screening.

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confidence: 99%

Global systematic review of primary immunodeficiency registries

Abolhassani

Azizi

Sharifi

et al. 2020

Expert Review of Clinical Immunology

102

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“…SCID NBS (TREC qPCR) 6. WGS (31,32). National or regional centers devoted to PIDs should be equipped with diagnostic and therapeutic resources of a standard corresponding to the HDI, which we propose in Table 2.…”

Section: Discussionmentioning

confidence: 99%

Current Perspectives and Unmet Needs of Primary Immunodeficiency Care in Asia Pacific

et al. 2020

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correlated with average testing level (r = 0.742, p = 0.002). Cases from medium-HDI countries/regions focused on learning how to investigate a patient for PIDs in cases of severe or atypical infections, whereas those from very-high-HDI countries/regions, from which most faculty members originated, listed hematopoietic stem cell transplantation and gene therapy, newborn screening, and research as learning issues more frequently. Conclusion: There are unique HDI-related PID resource and training needs in each country/region. APSID proposes HDI group-specific strategies to improve PID care and education in her member countries/regions. Further quantitative analysis of needs in PID care in Asia Pacific is needed for lobbying governments to increase their support for PID care and research.

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“…The prevalence of SCID around the world is 1 in 100,000 births [8]. In the past decade, about 50 cases were noted in India [9]. Babies with SCID suffer from recurrent infections.…”

Section: Discussionmentioning

confidence: 99%

A Case Report on Severe Combined Immune Deficiency: A Rare Inherited Pediatric Disorder

Andhi¹,

Mathew²,

Parchuru³

et al. 2020

IJCR

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Severe combined immune deficiency (SCID), also known as alymphocytosis, Glanzmann-Rinker syndrome, and thymic alymphoplasia, is characterized by impairment in the differentiation of T, B lymphocytes, and natural killer cells. Adenosine deaminase deficiency is the most common cause of SCID, as it leads to dysfunction of T, B lymphocytes and severe lymphopenia. Due to the severity of the disease, early diagnosis is essential to provide desired treatment and get a good therapeutic outcome. They need special treatment to strengthen the immune system and improve the chance of survival such as hematopoietic stem cell transplantation and enzyme replacement therapy (ERT). We present the case of a 4-month baby, born to a consanguineous couple with altered vitals and symptoms pertaining to immunodeficiency, and were on empirical antibiotic therapy and supportive care therapy to control opportunistic infections and stabilize the patient. This case report gives a brief insight into SCID.

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Primary Immunodeficiency Disorders in India—A Situational Review

Cited by 43 publications

References 25 publications

Global systematic review of primary immunodeficiency registries

Global systematic review of primary immunodeficiency registries

Current Perspectives and Unmet Needs of Primary Immunodeficiency Care in Asia Pacific

A Case Report on Severe Combined Immune Deficiency: A Rare Inherited Pediatric Disorder

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