The 2022 Update of IUIS Phenotypical Classification for Human Inborn Errors of Immunity

Bousfiha, Aziz; Moundir, Abderrahmane; Tangye, Stuart G.; Pïcard, Capucine; Jeddane, Leïla; Al‐Herz, Waleed; Rundles, Charlotte Cunningham; Franco, José Luis; Holland, Steven M.; Klein, Christoph; Morio, Tomohiro; Oksenhendler, Éric; Puel, Anne; Puck, Jennifer M.; Seppänen, Mikko; Somech, Raz; Su, Helen C.; Sullivan, Kathleen E.; Torgerson, Troy R.; Meyts, Isabelle

doi:10.1007/s10875-022-01352-z

Cited by 287 publications

(229 citation statements)

References 4 publications

Supporting

Mentioning

212

Contrasting

Unclassified

Order By: Relevance

“…Since the first case of anti-interferon-γ autoantibody (AIGA) positive patient was reported in 2004, AIGA-related adult-onset immunodeficiency, considered as an autoimmune phenocopy of inborn genetic errors of the IL-12/IFN-γ axis ( 1 ), has closely been associated with nontuberculous mycobacteria (NTM) and varicella zoster virus in individuals without human immunodeficiency virus (HIV) in Southeast Asia ( 2 ). However, a new strong relationship was observed between AIGA positivity and other intracellular pathogens, such as Talaromyces marneffei and Salmonella spp ( 2 , 3 )., Cryptococcus spp., Mycobacterium tuberculosis , Burkholderia spp., Epstein–Barr virus , and Histoplasma capsulatum , has been reported ( 3 , 4 ).…”

Section: Introductionmentioning

confidence: 99%

Pathogen spectrum and immunotherapy in patients with anti-IFN-γ autoantibodies: A multicenter retrospective study and systematic review

Qiu

Fang

et al. 2022

Front. Immunol.

View full text Add to dashboard Cite

BackgroundAnti-interferon-γ autoantibody (AIGA) positivity is an emerging immunodeficiency syndrome closely associated with intracellular infection in individuals without human immunodeficiency virus (HIV). However, the information on epidemiology, pathogen spectrum, and immunotherapy among these patients lack a systematic description of large data.MethodsThis systematic literature review and multicenter retrospective study aimed to describe the pathogen spectrum and review treatment strategies among patients with AIGA positivity.ResultsWe included 810 HIV-negative patients with AIGA positivity infected with one or more intracellular pathogens. Excluding four teenagers, all the patients were adults. The most common pathogen was nontuberculous mycobacteria (NTM) (676/810, 83.5%). A total of 765 NTM isolates were identified in 676 patients with NTM, including 342 (44.7%) rapid-grower mycobacteria, 273 (35.7%) slow-grower mycobacteria, and 150 (19.6%) unidentified NTM subtype. Even with long-term and intensive antimicrobial treatments, 42.6% of patients with AIGA positivity had recurrence and/or persistent infection. Sixty-seven patients underwent immunoregulatory or immunosuppressive therapy, and most (60) achieved remission. The most common treatment strategy was rituximab (27/67, 40.3%) and cyclophosphamide (22/67, 32.8%), followed by cyclophosphamide combined with glucocorticoids (8/67, 11.9%).ConclusionsIntracellular pathogen was the most common infection in patients with AIGA positivity. The predominant infection phenotypes were NTM, varicella-zoster virus, Talaromyces marneffei, and Salmonella spp., with or without other opportunistic infections. AIGA immunotherapy, including rituximab or cyclophosphamide, has yielded good preliminary results in some cases.

show abstract

Section: Introductionmentioning

confidence: 99%

Pathogen spectrum and immunotherapy in patients with anti-IFN-γ autoantibodies: A multicenter retrospective study and systematic review

Qiu

Fang

et al. 2022

Front. Immunol.

View full text Add to dashboard Cite

show abstract

“…Africa has a high rate of consanguineous mating with rates exceeding 60% in some areas of North and Sub-Saharan Africa [2]. Based on prevalence drawn from epidemiological studies, it was previously estimated that 988,000 persons in Africa may have underlying Inborn Errors of Immunity (IEI), which encompass more than 500 different diseases [3] [4]. Despite steady improvement, IEIs remain underdiagnosed in the African continent with less than 6,000 patients having received a diagnosis [5].…”

Section: Introductionmentioning

confidence: 99%

African Society for Immunodeficiency (Asid) Guidelines for Diagnosis and Management of Inborn Errors of Immunity in Africa: Core Concept, Development and Initial Results

Goda

Sobh²,

Nermeen³

et al. 2022

Preprint

View full text Add to dashboard Cite

Background and aims The African Society for Immunodeficiency (ASID), looked to form concise region-friendly guidelines for the clinical diagnosis and management of Inborn Errors of Immunity (IEI). The main objective was to develop these guidelines to accommodate for the locally prevalent endemic diseases and the disparity of resources within the continent. Furthermore, the society aimed to publish these guidelines to increase awareness among African physicians, and facilitate patient capture, diagnosis and initial management. Methods The African Society for Immunodeficiency convened an African IEI guidelines taskforce, which developed an initial standard operating procedure. This document entailed the main list of IEI in need of urgent guidelines formulation, validation and review processes. The first group of diseases chosen to start the formulation of the guidelines were diseases of immune dysregulation. Simultaneously, this was associated with assigning a local African IEI guidelines working party, consisting of mainly locally established experts and young doctors. Results Two pilot studies were produced for the project targeting the clinical diagnosis and management of autoimmune lymphoproliferative syndrome and Immune Dysregulation with Colitis, respectively. These guidelines will ensure better patient capture, diagnosis, and management especially given local endemic diseases and lack of resources. Moreover, it shall increase local inter-centre or regional collaboration with pioneers and experts within the field inside as well as outside the African continent.

show abstract

“…After more than three decades the total number of recognized PID were more than 120, arranged in eight categories, according to the 2005 report of the International Union of Immunological Societies (IUIS) ( 8 ). In IUIS 2022 classification, a total of 485 human inborn errors of immunity, adding 55 novel monogenic defects and one auto-immune phenocopy were described ( 9 ), representing an increase of almost 150 conditions since the update in 2013 where just a little over 330 diseases were acknowledged in the classification and an increase of around 80 conditions since the 2019 classification. Figure 1 illustrates the evolution in the discovery of new PID throughout the years.…”

Section: Introductionmentioning

confidence: 99%

Precision medicine: The use of tailored therapy in primary immunodeficiencies

Pinto

Neves

2022

Front. Immunol.

View full text Add to dashboard Cite

Primary immunodeficiencies (PID) are rare, complex diseases that can be characterised by a spectrum of phenotypes, from increased susceptibility to infections to autoimmunity, allergy, auto-inflammatory diseases and predisposition to malignancy. With the introduction of genetic testing in these patients and wider use of next-Generation sequencing techniques, a higher number of pathogenic genetic variants and conditions have been identified, allowing the development of new, targeted treatments in PID. The concept of precision medicine, that aims to tailor the medical interventions to each patient, allows to perform more precise diagnosis and more importantly the use of treatments directed to a specific defect, with the objective to cure or achieve long-term remission, minimising the number and type of side effects. This approach takes particular importance in PID, considering the nature of causative defects, disease severity, short- and long-term complications of disease but also of the available treatments, with impact in life-expectancy and quality of life. In this review we revisit how this approach can or is already being implemented in PID and provide a summary of the most relevant treatments applied to specific diseases.

show abstract

The 2022 Update of IUIS Phenotypical Classification for Human Inborn Errors of Immunity

Cited by 287 publications

References 4 publications

Pathogen spectrum and immunotherapy in patients with anti-IFN-γ autoantibodies: A multicenter retrospective study and systematic review

Pathogen spectrum and immunotherapy in patients with anti-IFN-γ autoantibodies: A multicenter retrospective study and systematic review

African Society for Immunodeficiency (Asid) Guidelines for Diagnosis and Management of Inborn Errors of Immunity in Africa: Core Concept, Development and Initial Results

Precision medicine: The use of tailored therapy in primary immunodeficiencies

Contact Info

Product

Resources

About