Truly selective primary IgM deficiency is probably very rare

L.M.A. Janssen, T. Macken, M.C.W. Creemers, J.F.M. Pruijt, J.J.J. Eijk, E. de Vries

Research output: Contribution to journalArticleScientificpeer-review

Abstract

Isolated decreased serum-immunoglobulin (Ig)M has been associated with severe and/or recurrent infections, atopy and autoimmunity. However, the reported high prevalence of clinical problems in IgM-deficient patients may reflect the skewed tertiary centre population studied so far. Also, many papers on IgM deficiency have included patients with more abnormalities than simply IgM-deficiency. We studied truly selective primary IgM deficiency according to the diagnostic criteria of the European Society for Immunodeficiencies (ESID) (true sIgMdef) by reviewing the literature (261 patients with primary decreased serum-IgM in 46 papers) and analysing retrospectively all patients with decreased serum-IgM in a large teaching hospital in 's-Hertogenbosch, the Netherlands [1 July 2005-23 March 2016; n = 8049 IgM < 0·4 g/l; n = 2064 solitary (IgG+IgA normal/IgM < age-matched reference)]. A total of 359 of 2064 (17%) cases from our cohort had primary isolated decreased serum-IgM, proven persistent in 45 of 359 (13%) cases; their medical charts were reviewed. Our main finding is that true sIgMdef is probably very rare. Only six of 261 (2%) literature cases and three of 45 (7%) cases from our cohort fulfilled the ESID criteria completely; 63 of 261 (24%) literature cases also had other immunological abnormalities and fulfilled the criteria for unclassified antibody deficiencies (unPAD) instead. The diagnosis was often uncertain (possible sIgMdef): data on IgG subclasses and/or vaccination responses were lacking in 192 of 261 (74%) literature cases and 42 of 45 (93%) cases from our cohort. Our results also illustrate the clinical challenge of determining the relevance of a serum sample with decreased IgM; a larger cohort of true sIgMdef patients is needed to explore fully its clinical consequences. The ESID online Registry would be a useful tool for this.
Original languageEnglish
Pages (from-to)203–211
JournalClinical and Experimental Immunology
Volume191
Issue number2
DOIs
Publication statusPublished - 2017

Fingerprint

Serum
Autoimmunity
Teaching Hospitals
Netherlands

Cite this

Janssen, L. M. A., Macken, T., Creemers, M. C. W., Pruijt, J. F. M., Eijk, J. J. J., & de Vries, E. (2017). Truly selective primary IgM deficiency is probably very rare. Clinical and Experimental Immunology, 191(2), 203–211 . https://doi.org/10.1111/cei.13065
Janssen, L.M.A. ; Macken, T. ; Creemers, M.C.W. ; Pruijt, J.F.M. ; Eijk, J.J.J. ; de Vries, E. / Truly selective primary IgM deficiency is probably very rare. In: Clinical and Experimental Immunology. 2017 ; Vol. 191, No. 2. pp. 203–211 .
@article{4f0947d9a044450e8e614cdfcf37d199,
title = "Truly selective primary IgM deficiency is probably very rare",
abstract = "Isolated decreased serum-immunoglobulin (Ig)M has been associated with severe and/or recurrent infections, atopy and autoimmunity. However, the reported high prevalence of clinical problems in IgM-deficient patients may reflect the skewed tertiary centre population studied so far. Also, many papers on IgM deficiency have included patients with more abnormalities than simply IgM-deficiency. We studied truly selective primary IgM deficiency according to the diagnostic criteria of the European Society for Immunodeficiencies (ESID) (true sIgMdef) by reviewing the literature (261 patients with primary decreased serum-IgM in 46 papers) and analysing retrospectively all patients with decreased serum-IgM in a large teaching hospital in 's-Hertogenbosch, the Netherlands [1 July 2005-23 March 2016; n = 8049 IgM < 0·4 g/l; n = 2064 solitary (IgG+IgA normal/IgM < age-matched reference)]. A total of 359 of 2064 (17{\%}) cases from our cohort had primary isolated decreased serum-IgM, proven persistent in 45 of 359 (13{\%}) cases; their medical charts were reviewed. Our main finding is that true sIgMdef is probably very rare. Only six of 261 (2{\%}) literature cases and three of 45 (7{\%}) cases from our cohort fulfilled the ESID criteria completely; 63 of 261 (24{\%}) literature cases also had other immunological abnormalities and fulfilled the criteria for unclassified antibody deficiencies (unPAD) instead. The diagnosis was often uncertain (possible sIgMdef): data on IgG subclasses and/or vaccination responses were lacking in 192 of 261 (74{\%}) literature cases and 42 of 45 (93{\%}) cases from our cohort. Our results also illustrate the clinical challenge of determining the relevance of a serum sample with decreased IgM; a larger cohort of true sIgMdef patients is needed to explore fully its clinical consequences. The ESID online Registry would be a useful tool for this.",
author = "L.M.A. Janssen and T. Macken and M.C.W. Creemers and J.F.M. Pruijt and J.J.J. Eijk and {de Vries}, E.",
year = "2017",
doi = "10.1111/cei.13065",
language = "English",
volume = "191",
pages = "203–211",
journal = "Clinical and Experimental Immunology",
issn = "1365-2249",
publisher = "Wiley-Blackwell",
number = "2",

}

Janssen, LMA, Macken, T, Creemers, MCW, Pruijt, JFM, Eijk, JJJ & de Vries, E 2017, 'Truly selective primary IgM deficiency is probably very rare', Clinical and Experimental Immunology, vol. 191, no. 2, pp. 203–211 . https://doi.org/10.1111/cei.13065

Truly selective primary IgM deficiency is probably very rare. / Janssen, L.M.A.; Macken, T.; Creemers, M.C.W.; Pruijt, J.F.M.; Eijk, J.J.J.; de Vries, E.

In: Clinical and Experimental Immunology, Vol. 191, No. 2, 2017, p. 203–211 .

Research output: Contribution to journalArticleScientificpeer-review

TY - JOUR

T1 - Truly selective primary IgM deficiency is probably very rare

AU - Janssen, L.M.A.

AU - Macken, T.

AU - Creemers, M.C.W.

AU - Pruijt, J.F.M.

AU - Eijk, J.J.J.

AU - de Vries, E.

PY - 2017

Y1 - 2017

N2 - Isolated decreased serum-immunoglobulin (Ig)M has been associated with severe and/or recurrent infections, atopy and autoimmunity. However, the reported high prevalence of clinical problems in IgM-deficient patients may reflect the skewed tertiary centre population studied so far. Also, many papers on IgM deficiency have included patients with more abnormalities than simply IgM-deficiency. We studied truly selective primary IgM deficiency according to the diagnostic criteria of the European Society for Immunodeficiencies (ESID) (true sIgMdef) by reviewing the literature (261 patients with primary decreased serum-IgM in 46 papers) and analysing retrospectively all patients with decreased serum-IgM in a large teaching hospital in 's-Hertogenbosch, the Netherlands [1 July 2005-23 March 2016; n = 8049 IgM < 0·4 g/l; n = 2064 solitary (IgG+IgA normal/IgM < age-matched reference)]. A total of 359 of 2064 (17%) cases from our cohort had primary isolated decreased serum-IgM, proven persistent in 45 of 359 (13%) cases; their medical charts were reviewed. Our main finding is that true sIgMdef is probably very rare. Only six of 261 (2%) literature cases and three of 45 (7%) cases from our cohort fulfilled the ESID criteria completely; 63 of 261 (24%) literature cases also had other immunological abnormalities and fulfilled the criteria for unclassified antibody deficiencies (unPAD) instead. The diagnosis was often uncertain (possible sIgMdef): data on IgG subclasses and/or vaccination responses were lacking in 192 of 261 (74%) literature cases and 42 of 45 (93%) cases from our cohort. Our results also illustrate the clinical challenge of determining the relevance of a serum sample with decreased IgM; a larger cohort of true sIgMdef patients is needed to explore fully its clinical consequences. The ESID online Registry would be a useful tool for this.

AB - Isolated decreased serum-immunoglobulin (Ig)M has been associated with severe and/or recurrent infections, atopy and autoimmunity. However, the reported high prevalence of clinical problems in IgM-deficient patients may reflect the skewed tertiary centre population studied so far. Also, many papers on IgM deficiency have included patients with more abnormalities than simply IgM-deficiency. We studied truly selective primary IgM deficiency according to the diagnostic criteria of the European Society for Immunodeficiencies (ESID) (true sIgMdef) by reviewing the literature (261 patients with primary decreased serum-IgM in 46 papers) and analysing retrospectively all patients with decreased serum-IgM in a large teaching hospital in 's-Hertogenbosch, the Netherlands [1 July 2005-23 March 2016; n = 8049 IgM < 0·4 g/l; n = 2064 solitary (IgG+IgA normal/IgM < age-matched reference)]. A total of 359 of 2064 (17%) cases from our cohort had primary isolated decreased serum-IgM, proven persistent in 45 of 359 (13%) cases; their medical charts were reviewed. Our main finding is that true sIgMdef is probably very rare. Only six of 261 (2%) literature cases and three of 45 (7%) cases from our cohort fulfilled the ESID criteria completely; 63 of 261 (24%) literature cases also had other immunological abnormalities and fulfilled the criteria for unclassified antibody deficiencies (unPAD) instead. The diagnosis was often uncertain (possible sIgMdef): data on IgG subclasses and/or vaccination responses were lacking in 192 of 261 (74%) literature cases and 42 of 45 (93%) cases from our cohort. Our results also illustrate the clinical challenge of determining the relevance of a serum sample with decreased IgM; a larger cohort of true sIgMdef patients is needed to explore fully its clinical consequences. The ESID online Registry would be a useful tool for this.

U2 - 10.1111/cei.13065

DO - 10.1111/cei.13065

M3 - Article

VL - 191

SP - 203

EP - 211

JO - Clinical and Experimental Immunology

JF - Clinical and Experimental Immunology

SN - 1365-2249

IS - 2

ER -