Primary immune deficiency disorders in the South Pacific: the clinical utility of a customized genetic testing program in New Zealand

Ameratunga, Rohan; Woon, See‐Tarn; Brewerton, Maia; Koopmans, Wikke; Jordan, A. M.; Singh, Ranjeeta

doi:10.1111/j.1749-6632.2011.06238.x

Cited by 22 publications

(15 citation statements)

References 50 publications

(88 reference statements)

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“…The result of this genetic testing could include screening for newborns and for those in specific family or ethnic groups [6,8]. Patients with PID may also benefit from a molecular analysis of their disease in distinguishing acquired forms from primary genetic disorders, identifying novel and atypical presentations of PID, and early and presymptomatic diagnosis [125].…”

Section: Definite Diagnosis Of Defects In Innate Immunity In Iranmentioning

confidence: 99%

Molecular diagnosis of primary immunodeficiency diseases in a developing country: Iran as an example

Latif

Tabassomi

Abolhassani

et al. 2014

Expert Review of Clinical Immunology

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Primary immunodeficiency diseases (PID) comprise a heterogeneous group of inherited diseases with a wide spectrum of clinical manifestations and laboratory abnormalities. Definite diagnosis of a PID is performed most reliably by detection of a gene mutation which will allow genetic counseling. In addition, detection and confirmation of PIDs that were not severe enough during childhood to lead to a specific diagnosis would be possible. As a definite diagnosis of PID is of importance for the management of these disorders, we present a review on studies that have investigated mutations among patients with different types of PID in Iran. Although the frequency of a definite molecular diagnosis of PID in Iran is acceptable in a developing country, we believe that providing additional laboratory resources and diagnostic methods, development of specialized centers for PID, in addition to improvement of physicians' awareness, may facilitate clinical and genetic diagnosis of patients with PID in Iran.

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Section: Definite Diagnosis Of Defects In Innate Immunity In Iranmentioning

confidence: 99%

Molecular diagnosis of primary immunodeficiency diseases in a developing country: Iran as an example

Latif

Tabassomi

Abolhassani

et al. 2014

Expert Review of Clinical Immunology

View full text Add to dashboard Cite

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“…Rare patients with monogenic defects of CD19, CD20, CD21, CD81 , and ICOS have been identified (35–38). If identified by molecular diagnostic studies (39), these patients are, however, no longer classified as having CVID and are removed from further consideration of the disorder (40, 41). Genetic alterations from genome wide association studies, including copy number variations (42) and sequence variations in genes such as TACI, BAFF receptor, and MSH5 may predispose to CVID.…”

Section: Review Of the Esid/pagid (1999) Criteria For Cvidmentioning

confidence: 99%

Comparison of Diagnostic Criteria for Common Variable Immunodeficiency Disorder

et al. 2014

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Common variable immunodeficiency disorders (CVIDs) are the most frequent symptomatic primary immune deficiency condition in adults. The genetic basis for the condition is not known and no single clinical feature or laboratory test can establish the diagnosis; it has been a diagnosis of exclusion. In areas of uncertainty, diagnostic criteria can provide valuable clinical information. Here, we compare the revised European society of immune deficiencies (ESID) registry (2014) criteria with the diagnostic criteria of Ameratunga et al. (2013) and the original ESID/pan American group for immune deficiency (ESID/PAGID 1999) criteria. The ESID/PAGID (1999) criteria either require absent isohemagglutinins or impaired vaccine responses to establish the diagnosis in patients with primary hypogammaglobulinemia. Although commonly encountered, infective and autoimmune sequelae of CVID were not part of the original ESID/PAGID (1999) criteria. Also excluded were a series of characteristic laboratory and histological abnormalities, which are useful when making the diagnosis. The diagnostic criteria of Ameratunga et al. (2013) for CVID are based on these markers. The revised ESID registry (2014) criteria for CVID require the presence of symptoms as well as laboratory abnormalities to establish the diagnosis. Once validated, criteria for CVID will improve diagnostic precision and will result in more equitable and judicious use of intravenous or subcutaneous immunoglobulin therapy.

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“…The genetic diagnosis must be established before considering these options (55–57). Patients must undergo intensive counseling before these options are considered.…”

Section: Hae Preventionmentioning

confidence: 99%

Hereditary Angioedema as a Metabolic Liver Disorder: Novel Therapeutic Options and Prospects for Cure

et al. 2016

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Hereditary angioedema (HAE) is a rare autosomal dominant disorder caused by mutations of the SERPING1 or the Factor 12 genes. It is potentially fatal, particularly if not identified at an early stage. Apart from androgens, which are contraindicated in children and in pregnant women, a range of effective, albeit very expensive treatments have recently become available for HAE patients. The cost of these new treatments is beyond the reach of most developing countries. At this time, there is no cure for the disorder. In spite of mutations of the SERPING1 gene, autoimmunity and infections are not prominent features of the condition. Here, we present the argument that HAE should be viewed primarily as a metabolic liver disorder. This conceptual paradigm shift will stimulate basic research and may facilitate new therapeutic approaches to HAE outlined in this paper. We suggest several novel potential treatment options for HAE from the perspectives of clinical immunology, molecular biology, and liver transplantation. Many of these offer the prospect of curing the disorder. The effectiveness of these options is rapidly improving in many cases, and their risks are decreasing. Given the very high costs of treating HAE, some of these curative options may become feasible in the next decade.

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Primary immune deficiency disorders in the South Pacific: the clinical utility of a customized genetic testing program in New Zealand

Cited by 22 publications

References 50 publications

Molecular diagnosis of primary immunodeficiency diseases in a developing country: Iran as an example

Molecular diagnosis of primary immunodeficiency diseases in a developing country: Iran as an example

Comparison of Diagnostic Criteria for Common Variable Immunodeficiency Disorder

Hereditary Angioedema as a Metabolic Liver Disorder: Novel Therapeutic Options and Prospects for Cure

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