Inborn Errors of Immunity Committee (IEI) - Activities


Last meeting

During its last meeting in February 2017, the committee began the work of updating the list of disorders.  Historically, the list has been published as a journal article and that will be forthcoming.  However, in acknowledgement of digital sources offered by IUIS and the need for a more nimble approach, this list is now available for direct download on the IUIS web site. This list can be used to design sequencing panels, ICD code lists and diagnostic algorithms.  The download list also allows sorting by gene name and inheritance when opened using a database application such as Excel.


Current activities

  • To review national and international guidelines for the diagnosis and or management of immune deficiencies by expert groups on request. Liaison – Luigi Notarangelo
  • To assist with the revision of diagnostic criteria for primary immunodeficiencies with the IUIS Clinical Immunology committee and the European Society for Immune Deficiencies. Liaison – Mary Ellen Conley
  • To produce a simplified version of the IEI Classification Tables for the general public. Liaison – Aziz Bousfiha
  • To assist Orphanet and the World Health Organisation in the revision of the International Classification of Diseases (ICD) codes for the primary immune deficiencies, version 11, due to be published in 2015. Liaison – Mimi Tang
  • To ensure the continued inclusion of therapeutic immunoglobulin in the World Health Organisation Essential Medicines Lists. Liaison – Jose Franco
  • To encourage, with the International Patient Organisation for Primary Immunodeficiencies, the implementation of the recommendations from the IUIS IEI position paper on the Safety and Availability of Immunoglobulin (1999) including: the avoidance of blood donation by individuals who have received blood or blood products in the past; recording of all batch numbers for tracing in the event of any pathogen transmission; to attempt (with the patient organisations) to obtain ante-mortem permission for post-mortem examination in all patients with primary immune deficiencies in countries in which post-mortem examinations are permitted; to consider advice on the routine immunisations needed for patients with primary immune deficiencies. Liaison – Jose Franco


Previous activities

  • Report on classification of IEIs published biennially since 1973. Latest version (2009) is available online
  • Availability of immunoglobulin – Successful application to WHO Essential Medicines List 2007 and WHO Essential Medicines List for Children 2008
  • Safety of immunoglobulin therapies – Position paper published in Clinical and Experimental Immunology in 1999

Relationship with IUIS

The IEI committee liaises with the following IUIS committees:

  • IUIS Committee on Clinical Immunology - particularly in relation to diagnostic criteria and availability of new therapies – Liaison -Mary Ellen Conley
  • IUIS Committee on Education - advertisement of schools for young investigators run by European Society for Immune Deficiencies (winter, spring and summer schools), US Clinical Immunology Society, Latin American Group for Immune Deficiencies and the S Asia Pacific group; facilitation of exchange of students from different regions; to encourage new groups such as the Federation of African Immunological Societies to establish similar educational opportunities for IEIs
  • IUIS Committee on Quality Assessment and Standardization – particularly in relation to QA for diagnostic procedures in IEIs, such as test immunization responses.


We are grateful to the following for their support, without which the committee would not be able to meet these responsibilities:
Baxter Healthcare, Octapharma, Grifols, Talecris and CSL-Behring.