Letter to the Editor

New diagnostic criteria for CVID Expert Rev. Clin. Immunol. 10(2), 183–186 (2014)

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Rohan Ameratunga Author for correspondence: Department of Virology and Immunology, Auckland Hospital, Auckland, New Zealand and Department of Clinical Immunology, Auckland Hospital, Auckland, New Zealand [email protected]

See-Tarn Woon Department of Virology and Immunology, Auckland Hospital, Auckland, New Zealand

David Gillis Department of Clinical Immunology, Royal Brisbane Hospital, Brisbane, Australia

Wikke Koopmans Department of Virology and Immunology, Auckland Hospital, Auckland, New Zealand

Richard Steele Department of Virology and Immunology, Auckland Hospital, Auckland, New Zealand

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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).

We read with interest the article published by Drs Kumar and Bhatia on common variable immune deficiency (CVID) [1]. Our recent paper [2] on proposed new criteria for CVID was cited in the review by Kumar and Bhatia. A table (Box 2 in the article [1]) similar to our diagnostic criteria appears to have been attributed to us, along with diagnostic Categories A–D. CVID is probably a heterogeneous group of polygenic disorders culminating in late-onset antibody failure. It is unlikely that a single diagnostic genetic test will become available in the foreseeable future. This is a difficult area as we have many patients with profound laboratory abnormalities who are relatively well [3]. Other patients are very ill with extensive suppurative lung disease but have minimal laboratory abnormalities. As the cause(s) of this/these complex disorder(s) is/are not known, our criteria were designed to ensure that patients with immune system failure (ISF) would be identified and treated with immunoglobulin. The main difference between our proposed criteria and the European Society of Immune Deficiency and PanAmerican Group for Immune Deficiency is the emphasis on clinical symptoms of ISF. Given the difficulties assessing vaccine responses [2], this aspect of the diagnosis has been de-emphasized in our criteria. Our criteria comprise four parts (TABLE 1). Patients must meet the major criteria in Category A. Adult patients must have an IgG < 5 g/l (not 4.5 g/l), which is the cutoff used in the French DEFI study [4]. This is well below the two standard deviations for IgG as stated in the Pan-American Group for

10.1586/1744666X.2014.875274

Immune Deficiency/European Society of Immune Deficiency criteria [5]. Patients must be over 4 years of age [6] and must not have a secondary cause for their hypogammaglobulinemia [7]. If patients satisfy Category A criteria, then they must have clinical evidence of ISF, usually susceptibility to infections or autoimmunity (Category B criteria). They must then meet Category C or D criteria. Category C criteria consist of a series of laboratory findings, which are not specific on their own but in combination will support the diagnosis of CVID. Category D consists of characteristic histological findings in CVID, which are consistent with the diagnosis. Patients meeting Categories A, B and C or D have probable CVID and will qualify for long-term immunoglobulin treatment (FIGURE 1). Those patients meeting only Category A have possible CVID and some with profound hypogammaglobulinemia will qualify for immunoglobulin treatment [2]. Those with mild reductions in IgG have been termed hypogammaglobulinemia of uncertain significance. These patients will need long-term follow-up as some will evolve into CVID. The diagnostic and treatment algorithm is shown in FIGURE 1. We are in the process of validating these criteria with the New Zealand hypogammaglobulinemia/CVID cohort. These criteria will need international consensus and endorsement by immunology societies. Having uniform criteria will assist with treating individual patients. It will also allow comparison of international cohorts of patients, who may have different clinical features and complications. Having a characteristic histological lesion may obviate the need to stop

Ó 2014 Informa UK Ltd

ISSN 1744-666X

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Letter to the Editor

Ameratunga, Woon, Gillis, Koopmans & Steele

Table 1. Proposed diagnostic criteria for common variable immune deficiency. A

Must meet all major criteria Hypogammaglobulinemia IgG 4 years [6]

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B

Sequelae directly attributable to immune system failure (one or more) Recurrent, severe or unusual infections Poor response to antibiotics Breakthrough infections in spite of prophylactic antibiotics Infections in spite of appropriate vaccination, for example, HPV disease Bronchiectasis and/or chronic sinus disease Inflammatory disorders or autoimmunity [9]

C

Supportive laboratory evidence (three or more criteria) Concomitant reduction or deficiency of IgA (5 g/l) are termed hypogammaglobulinemia of uncertain significance (HGUS). Patients meeting Category A criteria but not other criteria are deemed to have possible CVID. Most patients with probable CVID are likely to require IVIG/SCIG. Some patients with possible CVID will require IVIG/SCIG, but most patients with hypogammaglobulinemia of uncertain significance are unlikely to need IVIG/SCIG replacement. CVID: Common variable immune deficiency; HGUS: Hypogammaglobulinemia of uncertain significance; IVIG/SCIG: Intravenous immunoglobulin/subcutaneous immunoglobulin.

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Kumar Y, Bhatia A. Common variable immunodeficiency in adults: current diagnostic protocol and laboratory measures. Expert Rev Clin Immunol 2013;9(10): 959-77 Ameratunga R, Woon ST, Gillis D, et al. New diagnostic criteria for common variable immune deficiency (CVID), which may assist with decisions to treat with intravenous or subcutaneous immunoglobulin. Clin Exp Immunol 2013;174(2):203-11 Koopmans W, Woon ST, Brooks AE, et al. Clinical variability of family members with the C104R mutation in transmembrane activator and calcium modulator and cyclophilin ligand interactor (TACI). J Clin Immunol 2013;33(1):68-73

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Letter to the Editor

Ameratunga, Woon, Gillis, Koopmans & Steele

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Expert Rev. Clin. Immunol. 10(2), (2014)

New diagnostic criteria for CVID.

RESPONSE TO: Kumar R, Bhatia A. Common variable immunodeficiency in adults: current diagnostic protocol and laboratory measures. Expert Rev. Clin. Imm...
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