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Rationale: The European Society for Immunodeficiencies (ESID) defines selective IgM deficiency (sIgMdef) as a serum IgM level below 2 SDs of normal with normal levels of serum IgA, IgG and IgG subclasses, normal vaccine responses and absence of T-cell defects (http://www.esid.org). In many papers that report on primary sIgMdef, the definition of sIgMdef is not met. Primary selective IgM deficiency is reported to be associated with a wide range of clinical presentations. As it is also found in asymptomatic individuals, its clinical significance remains uncertain. In this study we will analyze patients with ‘true’ primary sIgMdef registered in the ESID Online Database (mostly tertiary centres) and cases retrospectively collected from the laboratory files of a Dutch large teaching hospital (Jeroen Bosch Hospital, ‘s-Hertogenbosch) to gain more insight into the clinical and laboratory phenotype.
Objective: The objective of this study is to 1. review previously published sIgMdef cases, 2. to describe age, gender, if possible data on diagnostic delay, presenting clinical symptoms and laboratory values, comorbid diseases and follow-up data in patients with sIgMdef registered in the ESID Online Database (mostly tertiary centres), and 3. to describe sIgMdef cases retrospectively identified through the laboratory files in the Jeroen Bosch Hospital, ‘s-Hertogenbosch, the Netherlands (secondary centre), and to compare the data from patients identified in these tertiary vs secondary hospital populations.
Study design: Retrospective data collection using the ESID Online Database, and the laboratory files and medical records in the Jeroen Bosch Hospital.
Study population: All patients with sIgMdef registered in the ESID Online Database at the moment of data extraction at the start of the study, and all patients with sIgMdef identified through the laboratory files of the Jeroen Bosch Hospital with absent or decreased IgM determined between July 4, 2005 and March 23, 2016.
Main study parameters/endpoints: All available clinical data concerning symptoms and laboratory data at presentation and during follow-up, occurrence of other diseases/complications, and treatment.
Nature and extent of the burden and risks associated with participation, benefit and group relatedness: Because the data are already collected in the ESID Online Registry and the laboratory files and medical records of the Jeroen Bosch Hospital, no additional risks or burden for patients are associated with this study.