International Union of Immunological Societies: 2017 Primary Immunodeficiency Diseases Committee Report on Inborn Errors of Immunity

Pïcard, Capucine; Gaspar, H. Bobby; Al‐Herz, Waleed; Bousfiha, Aziz; Casanova, Jean‐Laurent; Chatila, Talal A.; Crow, Yanick J.; Cunningham‐Rundles, Charlotte; Etzioni, Amos; Franco, José Luis; Holland, Steven M.; Klein, Christoph; Morio, Tomohiro; Ochs, Hans D.; Oksenhendler, Éric; Puck, Jennifer M.; Tang, Mimi L. K.; Tangye, Stuart G.; Torgerson, Troy R.; Sullivan, Kathleen E.

doi:10.1007/s10875-017-0464-9

Cited by 699 publications

(672 citation statements)

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“…Indeed, DOCK8 deficiency has also been categorized as a combined immunodeficiency (CID) (i.e. a T- and B-cell deficiency) by one of the two groups that discovered it [5] and by the International Union of Immunological Societies [11]. PGM3 deficiency is very rare and its classification as a form of HIES has not been contested [12].…”

Section: The History Of Ige and Hies In Human Diseasesmentioning

confidence: 99%

“…PGM3 deficiency is very rare and its classification as a form of HIES has not been contested [12]. Finally, TYK2 deficiency, which has been shown to underlie HIES in two families [45, 53], has been tentatively redefined as a cause of mycobacterial and viral diseases in a context of normal serum IgE levels, based on its identification in multiple families with this phenotype [11, 54]. The meaning of the term “HIES” has thus evolved considerably over the last 50 years.…”

Section: The History Of Ige and Hies In Human Diseasesmentioning

confidence: 99%

“…However, many other inborn errors of immunity leading to high serum IgE levels and severe infections, including Wiskott-Aldrich syndrome ( WAS or WIPF1 mutations), DiGeorge Syndrome (22q11.2DS), Omenn Syndrome (hypomorphic mutations in genes for which null alleles underlie SCID), immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome (IPEX, FOXP3 mutations), and Netherton/Comèl-Netherton syndrome ( SPINK5 mutations), have never been considered to belong to the HIES group. AD STAT3, AR DOCK8, and AR PGM3 deficiencies are currently considered to be bona fide forms of HIES by some investigators [6, 10-12], but not others [5, 11, 13-15]. Only Job’s syndrome and PGM3 deficiency are recognized as HIES in the International Union of Immunological Societies 2018 classification, which considers DOCK8 deficiency to be a combined immunodeficiency (CID) [11].…”

Section: Introductionmentioning

confidence: 99%

“…AD STAT3, AR DOCK8, and AR PGM3 deficiencies are currently considered to be bona fide forms of HIES by some investigators [6, 10-12], but not others [5, 11, 13-15]. Only Job’s syndrome and PGM3 deficiency are recognized as HIES in the International Union of Immunological Societies 2018 classification, which considers DOCK8 deficiency to be a combined immunodeficiency (CID) [11]. These three disorders have related, but different immunological and clinical phenotypes, with only a modest overlap.…”

Section: Introductionmentioning

confidence: 99%

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Human hyper-IgE syndrome: singular or plural?

et al. 2018

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Spectacular progress has been made in the characterization of human hyper-IgE syndrome (HIES) over the last 50 years. HIES is a primary immunodeficiency defined as an association of atopy in a context of very high serum IgE levels, characteristic bacterial and fungal diseases, low-level clinical and biological inflammation, and various non-hematopoietic developmental manifestations. Somewhat arbitrarily, three disorders were successively put forward as the underlying cause of HIES: autosomal dominant (AD) STAT3 deficiency, the only disorder corresponding to the original definition of HIES, and autosomal recessive (AR) DOCK8 and PGM3 deficiencies, in which atopy and high serum IgE levels occur in a context of manifestations not seen in patients with typical HIES. Indeed, these three disorders disrupt different molecular pathways, affect different cell types, and underlie different clinical phenotypes. Surprisingly, several other inherited inborn errors of immunity in which serum IgE levels are high, sometimes almost as high as those in HIES patients, are not considered to belong to the HIES group of diseases. Studies of HIES have been further complicated by the lack of a high serum IgE phenotype in all mouse models of the disease other than two Stat3 mutant strains. The study of infections in mutant mice has helped elucidate only some forms of HIES and infection. Mouse models of these conditions have also been used to study non-hematopoietic phenotypes for STAT3 deficiency, tissue-specific immunity for DOCK8 deficiency, and cell lineage maturation for PGM3 deficiency. We review here the history of the field of HIES since the first clinical description of this condition in 1966, together with the three disorders commonly referred to as HIES, focusing, in particular, on their mouse models. We propose the restriction of the term "HIES" to patients with an AD STAT3-deficiency phenotype, including the most recently described AR ZNF341 deficiency, thus excluding AR DOCK8 and PGM3 deficiencies from the definition of this disease.

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Section: The History Of Ige and Hies In Human Diseasesmentioning

confidence: 99%

Section: The History Of Ige and Hies In Human Diseasesmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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Human hyper-IgE syndrome: singular or plural?

et al. 2018

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“…Where previously the term ‘primary immunodeficiency’ (PID) had been used, the change in terminology seeks to implement a paradigm shift that aims to look beyond susceptibility to infection as the main manifestation of an immunity disorder. Instead, the change aims to represent a broader clinical presentation and range of diseases characterised by defects in immune development and/or function, including immune dysregulation conditions, autoinflammatory disorders and interferonopathies …”

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confidence: 99%

Haematopoietic stem cell transplantation for inborn errors of immunity: 25‐year experience from University of Malaya Medical Centre, Malaysia

Ariffin

Rahman

Jawin

et al. 2019

J Paediatrics Child Health

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Aim Inborn errors of immunity (IEI) comprise a heterogeneous group of disorders of the immune system, most of which are curable by haematopoietic stem cell transplantation (HSCT). We present a 25‐year audit of HSCT for IEI at a tertiary‐level academic hospital in Malaysia. Methods Review of medical records of all cases of IEI who underwent HSCT between January 1993 and December 2018 at our centre. Diagnoses, complications, HSCT protocols and outcome data were studied. Results There were 20 patients (19 boys) with a median age at diagnosis of 11 months (range: 2 months to 12 years). Eleven of 19 (58%) had malnutrition at presentation. Donor sources were variable: 13 (65%) matched sibling donor (MSD), 4 (20%) human leukocyte antigen‐haploidentical donor (HD) and 3 (15%) matched unrelated donor (MUD). Conditioning regimens were physician‐dependent and adapted to each patient's clinical status. Grades III–IV acute graft‐versus‐host disease occurred in two of three cases who received MUD grafts, 50% in those who received HD, and 8% in the MSD group. Transplant‐related mortality at day +100 was 5%. With a median follow‐up of 7.5 years, 18 (90%) patients are alive and free of infections. Conclusion Outcome of HSCT for IEI in our centre is comparable with international reports. HSCT results using HD and MUD grafts are also good despite challenges from acute graft‐versus‐host disease, providing a feasible alternative for patients without matched donors.

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Prevalence of Immunodeficiency in Children With Invasive Pneumococcal Disease in the Pneumococcal Vaccine Era

et al. 2019

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IMPORTANCE Despite increasing access to vaccination, invasive pneumococcal disease (IPD) is responsible for approximately 826 000 deaths worldwide in children younger than 5 years each year. To allow early identification and prevention, an improved understanding of risk factors for IPD is needed.OBJECTIVES To review the literature on the prevalence of primary immunodeficiency (PID) in children younger than 18 years presenting with IPD without another predisposing condition and to inform guidelines for immunologic evaluation after the first episode of IPD based on published evidence.EVIDENCE REVIEW A literature search of PubMed, Embase (inception [1974] to February 28, 2019), and MEDLINE (inception [1946] to February 28, 2019) was conducted using the terms Streptococcus pneumonia, Streptococcus pneumoniae, pneumococcal infection, Streptococcus infection, pneumococcal meningitis, immunodeficiency, immune response, immunocompromised, susceptib*, precursor, predispose*, recurren*, newborn, neonat*, infan*, toddler, child, preschooler, adolescen*, and pediatric. Publications reporting original data on immunodeficiency in children with microbiologically confirmed primary or recurrent IPD were included. Strength of clinical data was graded according to the 5-point scale of the Oxford Centre for Evidence-Based Medicine.FINDINGS In 6022 unique children with primary IPD, 5 of 393 (1.3%) to 17 of 162 (10.5%) of all children and 14 of 53 (26.4%) of those older than 2 years had a PID identified. Higher rates of PID, up to 10 of 15 (66.7%), were found in children with recurrent IPD. Antibody deficiency was the most common immunodeficiency, followed by complement deficiency, asplenia, and rarer defects in T-cell signaling. The site of infection was a key indicator for the risk of underlying PID, with the greatest risk of PID in children with meningitis or complicated pneumonia. CONCLUSIONS AND RELEVANCEResults of this study suggest that invasive pneumococcal disease, and particularly recurrent IPD, is an important marker of underlying PID in children without other risk factors. The findings also suggest that children older than 2 years with pneumococcal meningitis or complicated pneumonia and all children with recurrent IPD should be referred for an immune evaluation.

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International Union of Immunological Societies: 2017 Primary Immunodeficiency Diseases Committee Report on Inborn Errors of Immunity

Cited by 699 publications

References 20 publications

Human hyper-IgE syndrome: singular or plural?

Human hyper-IgE syndrome: singular or plural?

Haematopoietic stem cell transplantation for inborn errors of immunity: 25‐year experience from University of Malaya Medical Centre, Malaysia

Prevalence of Immunodeficiency in Children With Invasive Pneumococcal Disease in the Pneumococcal Vaccine Era

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