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NK and B cell deficiency in a MPS type II family with novel mutation in the IDS gene

Leuridan Cavalcante Torres1, Diogo Cordeiro de Queiroz Soares2, Leslie Domenici Kulikowski3

  • 1Translational Research Laboratory Prof. C. A. Hart, Instituto de Medicina Integral Prof. Fernando Figueira (IMIP), Recife, Brazil; Medical Investigation Laboratory (LIM 36), Hospital das Clínicas, Faculdade de Medicina, Universidade de São Paulo (USP), São Paulo, Brazil.

Clinical Immunology (Orlando, Fla.)
|July 20, 2014
PubMed

Insights

Mucopolysaccharidoses (MPS) patients with a novel IDS gene mutation showed immune system abnormalities, specifically reduced NK and B cells. This suggests the specific mutation may contribute to immunodeficiency in these rare genetic disorders.

Area of Science:

  • Immunology
  • Genetics
  • Rare Diseases

Background:

  • Mucopolysaccharidoses (MPS) are inherited lysosomal storage disorders affecting multiple organ systems and lifespan.
  • Lysosomes are crucial for immune function, and MPS patients may exhibit immune abnormalities akin to primary immunodeficiency.

Purpose of the Study:

  • To investigate potential immune system abnormalities in MPS type II patients with a novel IDS gene mutation.
  • To determine if specific IDS gene mutations are linked to immunodeficiency in MPS.

Main Methods:

  • Evaluation of 8 male MPS type II patients from a single family.
  • Analysis of NK and B cell counts, serum antibody levels (IgG, IgM, IgA), and response to polysaccharide antigens.

Main Results:

  • A quantitative deficiency in Natural Killer (NK) and B cells was observed in the studied MPS type II family.
  • Serum antibody levels and response to polysaccharide antigens remained within normal ranges.
  • These specific immune abnormalities were not reported in other MPS patient cohorts.

Conclusions:

  • The novel IDS gene mutation in this MPS type II family is associated with a specific immunodeficiency characterized by reduced NK and B cells.
  • The findings suggest a genotype-phenotype correlation, where the type of IDS mutation may influence the degree and type of immunodeficiency in MPS.
Keywords:
AutoimmunityB cellsImmunodeficiencyMucopolysaccharidosesNK cells

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