Cutaneous granulomas in ataxia telangiectasia and other primary immunodeficiencies: reflection of inappropriate immune regulation?

Dermatology. 2011;223(1):13-9. doi: 10.1159/000330335. Epub 2011 Aug 26.

Abstract

Background: Non-infective cutaneous granulomas with unknown pathogenesis occur in various primary immunodeficiencies (PIDs) including ataxia telangiectasia (A-T).

Objective: To find a common immunological denominator in these cutaneous granulomas.

Methods: The dermatological and immunological features of 4 patients with A-T and cutaneous granulomas were described. The literature on skin granulomas in A-T and in other PIDs is reviewed.

Results: All 4 A-T patients had progressive granulomas on their limbs and showed decreased IgG and IgA concentrations with normal IgM levels. They had a marked decrease in B cells and naïve T cells coinciding with the appearance of the cutaneous granulomas. Similar B- and T-cell abnormalities were described in patients with other PIDs with skin granulomas.

Conclusions: We hypothesize that the pathogenesis of these skin granulomas is related to immune dysregulation of macrophages due to the absence of naïve T cells with an appropriate T-cell receptor repertoire and the unopposed activity of γδ T cells and/or natural killer cells.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Ataxia Telangiectasia / complications
  • Ataxia Telangiectasia / immunology*
  • B-Lymphocytes / immunology
  • Child
  • Child, Preschool
  • Female
  • Granuloma / complications
  • Granuloma / immunology*
  • Humans
  • Immunoglobulin A / metabolism
  • Immunoglobulin G / metabolism
  • Immunologic Deficiency Syndromes / complications
  • Immunologic Deficiency Syndromes / immunology
  • Infant
  • Leg Dermatoses / immunology
  • Male
  • Skin Diseases / complications
  • Skin Diseases / immunology*
  • T-Lymphocytes / immunology

Substances

  • Immunoglobulin A
  • Immunoglobulin G