Current status and prospects of primary immunodeficiency diseases in Asia

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

doi:10.1016/j.gendis.2019.09.004

Cited by 27 publications

(18 citation statements)

References 37 publications

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“…Thus, routine haematology and immunologic and microbiological tests may help exclude other causes of the immune-related conditions in early life and provide some clues for a PID aetiology. In addition, an estimated not-toolow potential incidence of SCID in China derived from our study (8.00%, 2/25) and that of Pilania et al 26 indicates that T-cell receptor excision circle (TREC) analysis 27 is an accessible tool for SCID screening. These insights might potentially increase the diagnostic rate of PID and actualise personalised medicine for more patients.…”

Section: Discussionsupporting

confidence: 51%

Primary immunodeficiency‐related genes in neonatal intensive care unit patients with various genetic immune abnormalities: a multicentre study in China

et al. 2021

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Objectives. The present phenotype-based disease classification causes ambiguity in diagnosing and determining timely, effective treatment options for primary immunodeficiency (PID). In this study, we aimed to examine the characteristics of early-onset PID and proposed a JAK-STATopathy subgroup based on their molecular defects. Methods. We reviewed 72 patients (< 100 days) retrospectively. These patients exhibited various immune-related phenotypes and received a definitive molecular diagnosis by nextgeneration sequencing (NGS)-based tests. We evaluated the PIDcausing genes and clinical parameters. We assessed the genes that shared the JAK-STAT signalling pathway. We also examined the potential high risks related to the 180-day death rate. Results. We identified PID disorders in 25 patients (34.72%, 25/72). The 180-day mortality was 26.39% (19/72). Early onset of disease (cut-off value of 3.5 days of age) was associated with a high 180-day death rate (P = 0.009). Combined immunodeficiency with associated or syndromic features comprised the most common PID class (60.00%, 15/25). Patients who presented life-threatening infections were most likely to exhibit PID (odds ratio [OR] = 2.864; 95% confidence interval [CI]: 1.047-7.836). Twelve out of 72 patients shared JAK-STAT pathway defects. Seven JAK-STATopathy patients were categorised as PID. They were admitted to NICUs as immunological emergencies. Most of them experienced severe infections and thrombocytopenia, with 4 succumbing to an early death. Conclusions. This study confirmed that NGS can be utilised as an aetiological diagnostic method of complex immune-related conditions in early life. Through the classification of PID as pathway-based subtypes, we see an opportunity to dissect the heterogeneity and to direct targeted therapies.

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Section: Discussionsupporting

confidence: 51%

Primary immunodeficiency‐related genes in neonatal intensive care unit patients with various genetic immune abnormalities: a multicentre study in China

et al. 2021

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“…It is notable that nearly half of these countries have not established a national registry, but many do have published PID data from single large medical centers including Qatar, Oman, Korea, Thailand and India which make these data relatively unreliable as prevalence estimates. However, this shortcoming to some extent may be overlooked in small and low population countries, but the global estimation of PID is challenged by these types of data originating from large countries such as China and India [89]. Despite limitations in data, the spectrum of the prevalence of PIDs varies from a low of 0.08:100000 in Bangladesh to a high of 20.2:100000 in Kuwait.…”

Section: Discussionmentioning

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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“…Despite the availability of PID experts in Asia Pacific, training needs remain to be a significant issue. Structured PID training programs are commonly unavailable in medium-and high-HDI countries/regions and some very-high-HDI countries/regions (30). Most faculty members of APSID Schools originated from very-high-HDI countries/regions in or out of Asia.…”

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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Current status and prospects of primary immunodeficiency diseases in Asia

Cited by 27 publications

References 37 publications

Primary immunodeficiency‐related genes in neonatal intensive care unit patients with various genetic immune abnormalities: a multicentre study in China

Primary immunodeficiency‐related genes in neonatal intensive care unit patients with various genetic immune abnormalities: a multicentre study in China

Global systematic review of primary immunodeficiency registries

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

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