Encyclopedia of Medical Immunology

Living Edition
| Editors: Ian MacKay, Noel R. Rose

TIR Signaling Pathway Deficiency, HOIL1 Deficiency

  • Shan Yu Fung
  • Stuart E. Turvey
Living reference work entry
DOI: https://doi.org/10.1007/978-1-4614-9209-2_48-1



HOIL1 (Heme-Oxidized IRP2 Ubiquitin Ligase 1) deficiency is a novel, rare autosomal recessive disorder caused by biallelic disabling mutations in the gene HOIL1 (also known as RBCK1) with clinical characteristics of immunodeficiency, autoinflammation, and amylopectinosis. Currently, there are only three cases reported worldwide (Boisson et al. 2012). Patients with HOIL1 deficiency present recurrent pyogenic bacterial infections, episodes of noninfectious fever, autoinflammatory responses in the gastrointestinal tract and skin, hepatosplenomegaly, and glycogen storage dysfunction with amylopectin-like deposits in muscle tissues including cardiomyocytes. The detailed clinical manifestations are listed in Table 1.
Table 1

Clinical manifestations of HOIL1-deficient patients

Clinical manifestations

Family 1

Family 2

Patient 1 (compound heterozygous)

Patient 2 (compound heterozygous)

Patient 3 (homozygous)




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Copyright information

© Springer Science+Business Media LLC 2018

Authors and Affiliations

  • Shan Yu Fung
    • 1
  • Stuart E. Turvey
    • 1
  1. 1.BC Children’s Hospital Research Institute, University of British ColumbiaVancouverCanada

Section editors and affiliations

  • Stuart E Turvey
    • 1
  1. 1.British Columbia Children’s HospitalUniversity of British ColumbiaVancouverCanada