New diagnostic criteria for CVID

Ameratunga, Rohan; Woon, See‐Tarn; Gillis, David; Koopmans, Wikke; Steele, Richard

doi:10.1586/1744666x.2014.875274

Cited by 41 publications

(45 citation statements)

References 26 publications

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“…It is evident from this work and other publications 16 that full consensus regarding the definition of CVID does not yet exist. Some groups include clinical criteria in the definition, however, as for other primary immune defects, and considering the diverse manifestations of this disease, we conclude that the diagnosis of CVID should be primarily based on laboratory criteria.…”

Section: Areas For Further Studymentioning

confidence: 84%

“…Differences between the criteria of Ameratunga et al 16 and those stated above are summarized in Table II. Although the criteria presented here do not define “possible” or “probable” forms of CVID, we recognize that some patients with a low IgG level and impaired vaccine responses may not fulfill our criteria for CVID (at least at initial evaluation) because IgA or IgM level is not low.…”

Section: Definitionmentioning

confidence: 94%

“…Ameratunga et al 16 have recently proposed a distinct set of diagnostic criteria for CVID. Differences between the criteria of Ameratunga et al 16 and those stated above are summarized in Table II.…”

Section: Definitionmentioning

confidence: 99%

See 2 more Smart Citations

International Consensus Document (ICON): Common Variable Immunodeficiency Disorders

Bonilla

Barlan

Chapel

et al. 2016

The Journal of Allergy and Clinical Immunology: In Practice

705

772

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The International Collaboration in Asthma, Allergy and Immunology initiated an international coalition among the American Academy of Allergy, Asthma & Immunology; the European Academy of Allergy and Clinical Immunology; the World Allergy Organization; and the American College of Allergy, Asthma & Immunology on common variable immunodeficiency. An author group was formed and then divided into individual committees. Within the committee, teams of authors were subgrouped to generate content for specific sections of the document. Content was derived from literature searches, relevant published guidelines, and clinical experience. After a draft of the document was assembled, it was collectively reviewed and revised by the authors. Where evidence was lacking or conflicting, the information presented represents the consensus expert opinion of the group. The full document was then independently reviewed by 5 international experts in the field, none of whom was among the authors of the original. The comments of these reviewers were incorporated before submission for publication.

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Section: Areas For Further Studymentioning

confidence: 84%

Section: Definitionmentioning

confidence: 94%

See 1 more Smart Citation

International Consensus Document (ICON): Common Variable Immunodeficiency Disorders

Bonilla

Barlan

Chapel

et al. 2016

The Journal of Allergy and Clinical Immunology: In Practice

705

772

View full text Add to dashboard Cite

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“…Patients with undiagnosed B cell deficiencies were offered the opportunity to participate in our common variable immunodeficiency disorder (CVID) research program. Patients were accepted for the study if they fulfilled the Ameratunga et al criteria for CVID [14, 19, 20]. Written consent was sought prior to enrolment in the project.…”

Section: Discussionmentioning

confidence: 99%

Comprehensive genetic testing for primary immunodeficiency disorders in a tertiary hospital: 10-year experience in Auckland, New Zealand

Woon

Ameratunga

2016

Allergy Asthma Clin Immunol

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Background and purposeNew Zealand is a developed geographically isolated country in the South Pacific with a population of 4.4 million. Genetic diagnosis is the standard of care for most patients with primary immunodeficiency disorders (PIDs).MethodsSince 2005, we have offered a comprehensive genetic testing service for PIDs and other immune-related disorders with a published sequence. Here we present results for this program, over the first decade, between 2005 and 2014.ResultsWe undertook testing in 228 index cases and 32 carriers during this time. The three most common test requests were for X-linked lymphoproliferative (XLP), tumour necrosis factor receptor associated periodic syndrome (TRAPS) and haemophagocytic lymphohistiocytosis (HLH). Of the 32 suspected XLP cases, positive diagnoses were established in only 2 patients. In contrast, genetic defects in 8 of 11 patients with suspected X-linked agammaglobulinemia (XLA) were confirmed. Most XLA patients were initially identified from absence of B cells. Overall, positive diagnoses were made in about 23% of all tests requested. The diagnostic rate was lowest for several conditions with locus heterogeneity.ConclusionsThorough clinical characterisation of patients can assist in prioritising which genes should be tested. The clinician-driven customised comprehensive genetic service has worked effectively for New Zealand. Next generation sequencing will play an increasing role in disorders with locus heterogeneity.

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“…Treatment recommendations are closely linked to these diagnostic criteria (Figure 1). The Ameratunga et al (2013) criteria emphasize both the clinical and laboratory sequelae of ISF in these patients (72). …”

Section: New Diagnostic 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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New diagnostic criteria for CVID

Abstract: RESPONSE TO: Kumar R, Bhatia A. Common variable immunodeficiency in adults: current diagnostic protocol and laboratory measures. Expert Rev. Clin. Immunol. 10(2), 000-000 (2014).

Cited by 41 publications

References 26 publications

International Consensus Document (ICON): Common Variable Immunodeficiency Disorders

International Consensus Document (ICON): Common Variable Immunodeficiency Disorders

Comprehensive genetic testing for primary immunodeficiency disorders in a tertiary hospital: 10-year experience in Auckland, New Zealand

Comparison of Diagnostic Criteria for Common Variable Immunodeficiency Disorder

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