Inborn errors of immunity: A field without frontiers.
emerging therapies
genetic revolution
somatic mutations
Journal
Immunological reviews
ISSN: 1600-065X
Titre abrégé: Immunol Rev
Pays: England
ID NLM: 7702118
Informations de publication
Date de publication:
Mar 2024
Mar 2024
Historique:
pubmed:
8
12
2023
medline:
8
12
2023
entrez:
8
12
2023
Statut:
ppublish
Résumé
The study of primary immunodeficiencies or inborn errors of immunity continues to drive our knowledge of the function of the human immune system. From the outset, the study of inborn errors has focused on unraveling genetic etiologies and molecular mechanisms. Aided by the continuous growth in genetic diagnostics, the field has moved from the study of an infection dominated phenotype to embrace and unravel diverse manifestations of autoinflammation, autoimmunity, malignancy, and severe allergy in all medical disciplines. It has now moved from the study of ultrarare presentations to producing meaningful impact in conditions as diverse as inflammatory bowel disease, neurological conditions, and hematology. Beyond offering immunogenetic diagnosis, the study of underlying inborn errors of immunity in these conditions points to targeted treatment which can be lifesaving.
Types de publication
Journal Article
Review
Langues
eng
Sous-ensembles de citation
IM
Pagination
15-27Subventions
Organisme : Fondo Nacional de Desarrollo Científico y Tecnológico
ID : 1221802
Organisme : Fondo Nacional de Desarrollo Científico y Tecnológico
ID : ATE220061
Organisme : Fonds Wetenschappelijk Onderzoek
ID : G0B5120N
Organisme : Jeffrey Modell Foundation
Organisme : Universitaire Ziekenhuizen Leuven, KU Leuven
ID : C1 C16/18/007
Informations de copyright
© 2023 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.
Références
Bruton OC. Agammaglobulinemia. Pediatrics. 1952;9(6):722-728.
Bruton OC, Apt L, Gitlin D, Janeway CA. Absence of serum gamma globulins. AMA Am J Dis Child. 1952;84(5):632-636.
Smith CI, Notarangelo LD. Molecular basis for X-linked immunodeficiencies. Adv Genet. 1997;35:57-115.
Vetrie D, Vorechovsky I, Sideras P, et al. The gene involved in X-linked agammaglobulinaemia is a member of the src family of protein-tyrosine kinases. Nature. 1993;361(6409):226-233.
Tsukada S, Saffran DC, Rawlings DJ, et al. Deficient expression of a B cell cytoplasmic tyrosine kinase in human X-linked agammaglobulinemia. Cell. 1993;72(2):279-290.
Henner K. Apropos of the description of "Ataxia teleangiectasis" by Mme Louis-Bar. Priority of the description, by Lad. Syllaba and K. Henner in 1926, of the conjunctival vascular network. Rev Neurol (Paris). 1968;118(1):60-63.
Wiskott A. Familiarer, angeborener morbus werlhofli. Monatsschr Kinderh. 1937;68:212-216.
Lutz W. About verruciform epidermodysplasia. Dermatologica. 1946;92(1):30-43.
Kostmann R. Infantile genetic agranulocytosis; agranulocytosis infantilis hereditaria. Acta Paediatr Suppl (Upps). 1956;45(Suppl 105):1-78.
Stenhammar L, Strömberg L, Ljunggren CG. Kostmann's disease or severe hereditary neutropenia-the man behind the syndrome. Ann Hematol. 2020;99(10):2339-2341.
Lee H, Huang AY, Wang L-k, et al. Diagnostic utility of transcriptome sequencing for rare mendelian diseases. Genet Med. 2019;22:1-10.
Tangye SG, Al-Herz W, Bousfiha A, et al. Human inborn errors of immunity: 2022 update on the classification from the International Union of Immunological Societies Expert Committee. J Clin Immunol. 2022;42(7):1473-1507.
Bousfiha A, Moundir A, Tangye SG, et al. The 2022 update of IUIS phenotypical classification for human inborn errors of immunity. J Clin Immunol. 2022;42(7):1508-1520.
Zhang Q, Bastard P, Liu Z, et al. Inborn errors of type I IFN immunity in patients with life-threatening COVID-19. Science. 2020;370(6515):eabd4570.
Campbell TM, Liu Z, Zhang Q, et al. Respiratory viral infections in otherwise healthy humans with inherited IRF7 deficiency. J Exp Med. 2022;219(7):e20220202.
Zhang Q, Matuozzo D, Le Pen J, et al. Recessive inborn errors of type I IFN immunity in children with COVID-19 pneumonia. J Exp Med. 2022;219(8):e20220131.
Asano T, Boisson B, Onodi F, et al. X-linked recessive TLR7 deficiency in ~1% of men under 60 years old with life-threatening COVID-19. Sci Immunol. 2021;6:eabl4348.
Solanich X, Vargas-Parra G, van der Made CI, et al. Genetic screening for TLR7 variants in young and previously healthy men with severe COVID-19. Front Immunol. 2021;12:719115.
van der Made CI, Simons A, Schuurs-Hoeijmakers J, et al. Presence of genetic variants among young men with severe COVID-19. JAMA. 2020;324(7):663-673.
de Vries E. Patient-centred screening for primary immunodeficiency, a multi-stage diagnostic protocol designed for non-immunologists: 2011 update. Clin Exp Immunol. 2012;167(1):108-119.
Bosch B, Itan Y, Meyts I. Whole-exome sequencing for detecting inborn errors of immunity: overview and perspectives. F1000Res. 2017;6:2056.
Rudilla F, Franco-Jarava C, Martinez-Gallo M, et al. Expanding the clinical and genetic spectra of primary immunodeficiency-related disorders with clinical exome sequencing: expected and unexpected findings. Front Immunol. 2019;10:2325.
Bucciol G, Moens L, Bosch B, et al. Lessons learned from the study of human inborn errors of innate immunity. J Allergy Clin Immunol. 2019;143(2):507-527.
Conley ME, Casanova J-L. Discovery of single-gene inborn errors of immunity by next generation sequencing. Curr Opin Immunol. 2014;30:17-23.
Platt C, Geha RS, Chou J. Gene hunting in the genomic era: approaches to diagnostic dilemmas in patients with primary immunodeficiencies. J Allergy Clin Immunol. 2014;134(2):262-268.
Zhang Y, Su HC, Lenardo MJ. Genomics is rapidly advancing precision medicine for immunological disorders. Nat Immunol. 2015;16(10):1001-1004.
Bucciol G, Van Nieuwenhove E, Moens L, Itan Y, Meyts I. Whole exome sequencing in inborn errors of immunity: use the power but mind the limits. Curr Opin Allergy Clin Immunol. 2017;17(6):421-430.
Meyts I, Bosch B, Bolze A, et al. Exome and genome sequencing for inborn errors of immunity. J Allergy Clin Immunol. 2016;138(4):957-969.
Lee H, Huang AY, Wang LK, et al. Diagnostic utility of transcriptome sequencing for rare mendelian diseases. Genet Med. 2020;22(3):490-499.
Vorsteveld EE, Hoischen A, van der Made CI. Next-generation sequencing in the field of primary immunodeficiencies: current yield, challenges, and future perspectives. Clin Rev Allergy Immunol. 2021;61(2):212-225.
Kohn DB, Weinberg KI, Nolta JA, et al. Engraftment of gene-modified umbilical cord blood cells in neonates with adenosine deaminase deficiency. Nat Med. 1995;1(10):1017-1023.
Blaese RM, Culver KW, Miller AD, et al. T lymphocyte-directed gene therapy for ADA− SCID: initial trial results after 4 years. Science. 1995;270(5235):475-480.
Bordignon C, Notarangelo LD, Nobili N, et al. Gene therapy in peripheral blood lymphocytes and bone marrow for ADA− immunodeficient patients. Science. 1995;270(5235):470-475.
Bucciol G, Meyts I. Recent advances in primary immunodeficiency: from molecular diagnosis to treatment. F1000Res. 2020;9:194.
Bennett CL, Christie J, Ramsdell F, et al. The immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome (IPEX) is caused by mutations of FOXP3. Nat Genet. 2001;27(1):20-21.
Bentham J, Morris DL, Graham DSC, et al. Genetic association analyses implicate aberrant regulation of innate and adaptive immunity genes in the pathogenesis of systemic lupus erythematosus. Nat Genet. 2015;47(12):1457-1464.
Ronnblom L, Leonard D. Interferon pathway in SLE: one key to unlocking the mystery of the disease. Lupus Sci Med. 2019;6(1):e000270.
Omarjee O, Picard C, Frachette C, et al. Monogenic lupus: dissecting heterogeneity. Autoimmun Rev. 2019;18(10):102361.
Jia X, Tan L, Chen S, Tang R, Chen W. Monogenic lupus: tracing the therapeutic implications from single gene mutations. Clin Immunol. 2023;254:109699.
Tusseau M, Lovsin E, Samaille C, et al. DNASE1L3 deficiency, new phenotypes, and evidence for a transient type I IFN signaling. J Clin Immunol. 2022;42(6):1310-1320.
Ozen S, Sag E. Childhood vasculitis. Rheumatology (Oxford). 2020;59(Suppl 3):iii95-iii100.
Schnabel A, Hedrich CM. Childhood vasculitis. Front Pediatr. 2018;6:421.
Navon Elkan P, Pierce SB, Segel R, et al. Mutant adenosine deaminase 2 in a polyarteritis nodosa vasculopathy. N Engl J Med. 2014;370(10):921-931.
Zhou Q, Yang D, Ombrello AK, et al. Early-onset stroke and vasculopathy associated with mutations in ADA2. N Engl J Med. 2014;370(10):911-920.
Dzhus M, Ehlers L, Wouters M, et al. A narrative review of the neurological manifestations of human adenosine deaminase 2 deficiency. J Clin Immunol. 2023;43:1916-1926.
Maccora I, Maniscalco V, Campani S, et al. A wide spectrum of phenotype of deficiency of deaminase 2 (DADA2): a systematic literature review. Orphanet J Rare Dis. 2023;18(1):117.
Moens L, Hershfield M, Arts K, Aksentijevich I, Meyts I. Human adenosine deaminase 2 deficiency: a multi-faceted inborn error of immunity. Immunol Rev. 2019;287(1):62-72.
Schnappauf O, Sampaio Moura N, Aksentijevich I, et al. Sequence-based screening of patients with idiopathic polyarteritis nodosa, granulomatosis with polyangiitis, and microscopic polyangiitis for deleterious genetic variants in ADA2. Arthritis Rheumatol. 2021;73(3):512-519.
Lee PY, Davidson BA, Abraham RS, et al. Evaluation and management of deficiency of adenosine deaminase 2: an international consensus statement. JAMA Netw Open. 2023;6(5):e2315894.
Hashem H, Bucciol G, Ozen S, et al. Hematopoietic cell transplantation cures adenosine deaminase 2 deficiency: report on 30 patients. J Clin Immunol. 2021;41(7):1633-1647.
Hashem H, Dimitrova D, Meyts I. Allogeneic hematopoietic cell transplantation for patients with deficiency of adenosine deaminase 2 (DADA2): approaches, obstacles and special considerations. Front Immunol. 2022;13:932385.
Lam MT, Coppola S, Krumbach OHF, et al. A novel disorder involving dyshematopoiesis, inflammation, and HLH due to aberrant CDC42 function. J Exp Med. 2019;216(12):2778-2799.
Ochfeld E, Curran ML, Chiarella SE, Ardalan K, Khojah A. A case report of SAVI mimicking early-onset ANCA Vasculitis. J Clin Immunol. 2021;41(7):1652-1655.
Staels F, Betrains A, Doubel P, et al. Adult-onset ANCA-associated vasculitis in SAVI: extension of the phenotypic spectrum, case report and review of the literature. Front Immunol. 2020;11:575219.
Kapp FG, Kretschmer S, Beckmann CCA, et al. C-terminal variants in CDC42 drive type I interferon-dependent autoinflammation in NOCARH syndrome reversible by ruxolitinib. Clin Immunol. 2023;256:109777.
Uhlig HH, Booth C, Cho J, et al. Precision medicine in monogenic inflammatory bowel disease: proposed mIBD REPORT standards. Nat Rev Gastroenterol Hepatol. 2023;20:810-828.
Kelsen J, Dawany N, Conrad M, et al. Clinical and laboratory predictors of monogenic very early onset inflammatory bowel disease. Clin Immunol. 2022;240:109047.
Nigrovic PA, Lee PY, Hoffman HM. Monogenic autoinflammatory disorders: conceptual overview, phenotype, and clinical approach. J Allergy Clin Immunol. 2020;146(5):925-937.
Poli MC. New autoinflammatory diseases. Curr Opin Pediatr. 2018;30(6):837-847.
Parentelli AS, Picard C, Boursier G, et al. Autoinflammatory diseases associated with RIPK1 mutations: a review of the literature. Rev Med Interne. 2022;43(9):552-558.
Padem N, Wright H, Fuleihan R, et al. Rheumatologic diseases in patients with inborn errors of immunity in the USIDNET registry. Clin Rheumatol. 2022;41(7):2197-2203.
Vaseghi-Shanjani M, Snow AL, Margolis DJ, et al. Atopy as immune dysregulation: offender genes and targets. J Allergy Clin Immunol Pract. 2022;10(7):1737-1756.
Vaseghi-Shanjani M, Yousefi P, Sharma M, et al. Transcription factor defects in inborn errors of immunity with atopy. Front Allergy. 2023;4:1237852.
Milner JD. Primary atopic disorders. Annu Rev Immunol. 2020;38:785-808.
Sharma M, Leung D, Momenilandi M, et al. Human germline heterozygous gain-of-function STAT6 variants cause severe allergic disease. J Exp Med. 2023;220(5):e20221755.
Takeuchi I, Yanagi K, Takada S, et al. STAT6 gain-of-function variant exacerbates multiple allergic symptoms. J Allergy Clin Immunol. 2023;151(5):1402-1409.e6.
Suratannon N, Ittiwut C, Dik WA, et al. A germline STAT6 gain-of-function variant is associated with early-onset allergies. J Allergy Clin Immunol. 2023;151(2):565-571.e9.
Minskaia E, Maimaris J, Jenkins P, et al. Autosomal dominant STAT6 gain of function causes severe atopy associated with lymphoma. J Clin Immunol. 2023;43(7):1611-1622.
Smith TD, Doherty TA. Learning while treating: gain-of-function STAT6 variants in severe allergic disease. Cell Rep Med. 2023;4(5):101040.
van Os NJH, Jansen AFM, van Deuren M, et al. Ataxia-telangiectasia: immunodeficiency and survival. Clin Immunol. 2017;178:45-55.
Booth C, Gilmour KC, Veys P, et al. X-linked lymphoproliferative disease due to SAP/SH2D1A deficiency: a multicenter study on the manifestations, management and outcome of the disease. Blood. 2011;117(1):53-62.
Kuehn HS, Boast B, Rosenzweig SD. Inborn errors of human IKAROS: LOF and GOF variants associated with primary immunodeficiency. Clin Exp Immunol. 2023;212(2):129-136.
Bomken S, van der Werff Ten Bosch J, Attarbaschi A, et al. Current understanding and future research priorities in malignancy associated with inborn errors of immunity and DNA repair disorders: the perspective of an interdisciplinary working group. Front Immunol. 2018;9:2912.
Sanchez-Ramon S, Chapel H, Cunningham-Rundles C. On the relevance of immunodeficiency evaluation in haematological cancer. Hematol Oncol. 2021;39(5):721-723.
Sanchez-Ramon S, Bermudez A, Gonzalez-Granado LI, et al. Primary and secondary immunodeficiency diseases in oncohaematology: warning signs, diagnosis, and management. Front Immunol. 2019;10:586.
Bisgin A, Boga I, Yilmaz M, Bingol G, Altintas D. The utility of next-generation sequencing for primary immunodeficiency disorders: experience from a clinical diagnostic laboratory. Biomed Res Int. 2018;2018:9647253.
Gallo V, Dotta L, Giardino G, et al. Diagnostics of primary immunodeficiencies through next-generation sequencing. Front Immunol. 2016;7:466.
Stoddard JL, Niemela JE, Fleisher TA, Rosenzweig SD. Targeted NGS: a cost-effective approach to molecular diagnosis of PIDs. Front Immunol. 2014;5:531.
Schwarze K, Buchanan J, Fermont JM, et al. The complete costs of genome sequencing: a microcosting study in cancer and rare diseases from a single center in the United Kingdom. Genet Med. 2020;22(1):85-94.
Enomoto Y, Tsurusaki Y, Yokoi T, et al. CNV analysis using whole exome sequencing identified biallelic CNVs of VPS13B in siblings with intellectual disability. Eur J Med Genet. 2020;63(1):103610.
Samarakoon PS, Sorte HS, Kristiansen BE, et al. Identification of copy number variants from exome sequence data. BMC Genomics. 2014;15:661.
Hehir-Kwa JY, Pfundt R, Veltman JA. Exome sequencing and whole genome sequencing for the detection of copy number variation. Expert Rev Mol Diagn. 2015;15(8):1023-1032.
Gross AM, Ajay SS, Rajan V, et al. Copy-number variants in clinical genome sequencing: deployment and interpretation for rare and undiagnosed disease. Genet Med. 2019;21(5):1121-1130.
Marshall CR, Chowdhury S, Taft RJ, et al. Best practices for the analytical validation of clinical whole-genome sequencing intended for the diagnosis of germline disease. NPJ Genom Med. 2020;5:47.
Chinn IK, Orange JS. A 2020 update on the use of genetic testing for patients with primary immunodeficiency. Expert Rev Clin Immunol. 2020;16(9):897-909.
Thaventhiran JED, Lango Allen H, Burren OS, et al. Whole-genome sequencing of a sporadic primary immunodeficiency cohort. Nature. 2020;583(7814):90-95.
Simon AJ, Golan AC, Lev A, et al. Whole exome sequencing (WES) approach for diagnosing primary immunodeficiencies (PIDs) in a highly consanguineous community. Clin Immunol. 2020;214:108376.
Jo EK, Futatani T, Kanegane H, et al. Mutational analysis of the WASP gene in 2 Korean families with Wiskott-Aldrich syndrome. Int J Hematol. 2003;78(1):40-44.
Turul T, Tezcan I, Artac H, et al. Clinical heterogeneity can hamper the diagnosis of patients with ZAP70 deficiency. Eur J Pediatr. 2009;168(1):87-93.
Kay S, Herishanu Y, Pick M, et al. Quantitative flow cytometry of ZAP-70 levels in chronic lymphocytic leukemia using molecules of equivalent soluble fluorochrome. Cytometry B Clin Cytom. 2006;70(4):218-226.
Kanegane H, Hoshino A, Okano T, et al. Flow cytometry-based diagnosis of primary immunodeficiency diseases. Allergol Int. 2018;67(1):43-54.
Cabral-Marques O, Schimke LF, de Oliveira EB Jr, et al. Flow cytometry contributions for the diagnosis and immunopathological characterization of primary immunodeficiency diseases with immune dysregulation. Front Immunol. 2019;10:2742.
Leiding JW, Vogel TP, Santarlas VGJ, et al. Monogenic early-onset lymphoproliferation and autoimmunity: natural history of STAT3 gain-of-function syndrome. J Allergy Clin Immunol. 2023;151(4):1081-1095.
Hartono SP, Vargas-Hernandez A, Ponsford MJ, et al. Novel STAT1 gain-of-function mutation presenting as combined immunodeficiency. J Clin Immunol. 2018;38(7):753-756.
Casanova JL, Conley ME, Seligman SJ, Abel L, Notarangelo LD. Guidelines for genetic studies in single patients: lessons from primary immunodeficiencies. J Exp Med. 2014;211(11):2137-2149.
Ott N, Faletti L, Heeg M, Andreani V, Grimbacher B. JAKs and STATs from a clinical perspective: loss-of-function mutations, gain-of-function mutations, and their multidimensional consequences. J Clin Immunol. 2023;43(6):1326-1359.
Baysac K, Sun G, Nakano H, et al. PLCG2 associated immune dysregulation (PLAID) comprises broad and distinct clinical presentations related to functional classes of genetic variants. J Allergy Clin Immunol. 2023:S0091-6749(23)01200-9.
Wortmann SB, Oud MM, Alders M, et al. How to proceed after “negative” exome: a review on genetic diagnostics, limitations, challenges, and emerging new multiomics techniques. J Inherit Metab Dis. 2022;45(4):663-681.
Noyes MD, Harvey WT, Porubsky D, et al. Familial long-read sequencing increases yield of de novo mutations. Am J Hum Genet. 2022;109(4):631-646.
Beck DB, Bodian DL, Shah V, et al. Estimated prevalence and clinical manifestations of UBA1 variants associated with VEXAS syndrome in a clinical population. JAMA. 2023;329(4):318-324.
Aluri J, Bach A, Kaviany S, et al. Immunodeficiency and bone marrow failure with mosaic and germline TLR8 gain of function. Blood. 2021;137(18):2450-2462.
Aluri J, Cooper MA. Genetic mosaicism as a cause of inborn errors of immunity. J Clin Immunol. 2021;41(4):718-728.
Beck DB, Ferrada MA, Sikora KA, et al. Somatic mutations in UBA1 and severe adult-onset autoinflammatory disease. N Engl J Med. 2020;383(27):2628-2638.
Brown GJ, Canete PF, Wang H, et al. TLR7 gain-of-function genetic variation causes human lupus. Nature. 2022;605(7909):349-356.
Deshmukh A, Pereira A, Geraci N, et al. Preclinical evidence for the glucocorticoid-sparing potential of a dual toll-like receptor 7/8 inhibitor in autoimmune diseases. J Pharmacol Exp Ther. 2023;JPET-AR-2023-001744.
Lanz AL, Riester M, Peters P, et al. Abatacept for treatment-refractory pediatric CTLA4-haploinsufficiency. Clin Immunol. 2021;229:108779.
Kerner G, Ramirez-Alejo N, Seeleuthner Y, et al. Homozygosity for TYK2 P1104A underlies tuberculosis in about 1% of patients in a cohort of European ancestry. Proc Natl Acad Sci USA. 2019;116(21):10430-10434.
Boisson-Dupuis S. The monogenic basis of human tuberculosis. Hum Genet. 2020;139(6-7):1001-1009.
Tangye SG, Puel A. The Th17/IL-17 Axis and host defense against fungal infections. J Allergy Clin Immunol Pract. 2023;11(6):1624-1634.
Lanternier F, Pathan S, Vincent QB, et al. Deep dermatophytosis and inherited CARD9 deficiency. N Engl J Med. 2013;369(18):1704-1714.
Beziat V, Jouanguy E. Human inborn errors of immunity to oncogenic viruses. Curr Opin Immunol. 2021;72:277-285.
Beziat V, Rapaport F, Hu J, et al. Humans with inherited T cell CD28 deficiency are susceptible to skin papillomaviruses but are otherwise healthy. Cell. 2021;184(14):3812-3828.e30.
Tangye SG, Latour S. Primary immunodeficiencies reveal the molecular requirements for effective host defense against EBV infection. Blood. 2020;135(9):644-655.
Zhang Q. Human genetics of life-threatening influenza pneumonitis. Hum Genet. 2020;139(6-7):941-948.
Zhang Q, Bastard P, Effort CHG, Cobat A, Casanova JL. Human genetic and immunological determinants of critical COVID-19 pneumonia. Nature. 2022;603(7902):587-598.
Bastard P, Rosen LB, Zhang Q, et al. Autoantibodies against type I IFNs in patients with life-threatening COVID-19. Science. 2020;370(6515):eabd4585.
Bastard P, Gervais A, Le Voyer T, et al. Autoantibodies neutralizing type I IFNs are present in ~4% of uninfected individuals over 70 years old and account for ~20% of COVID-19 deaths. Sci Immunol. 2021;6(62):eabl4340.
Puel A, Bastard P, Bustamante J, Casanova JL. Human autoantibodies underlying infectious diseases. J Exp Med. 2022;219(4):e20211387.
Gervais A, Rovida F, Avanzini MA, et al. Autoantibodies neutralizing type I IFNs underlie West Nile virus encephalitis in approximately 40% of patients. J Exp Med. 2023;220(9):e20230661.
Zhang Q, Pizzorno A, Miorin L, et al. Autoantibodies against type I IFNs in patients with critical influenza pneumonia. J Exp Med. 2022;219(11):e20220514.
Bastard P, Michailidis E, Hoffmann HH, et al. Auto-antibodies to type I IFNs can underlie adverse reactions to yellow fever live attenuated vaccine. J Exp Med. 2021;218(4):e20202486.
Aladjidi N, Pincez T, Rieux-Laucat F, Nugent D. Paediatric-onset Evans syndrome: breaking away from refractory immune thrombocytopenia. Br J Haematol. 2023;203(1):28-35.
Pincez T, Fernandes H, Leblanc T, et al. Long term follow-up of pediatric-onset Evans syndrome: broad immunopathological manifestations and high treatment burden. Haematologica. 2022;107(2):457-466.
Pincez T, Aladjidi N, Heritier S, et al. Determinants of long-term outcomes of splenectomy in pediatric autoimmune cytopenias. Blood. 2022;140(3):253-261.
Hadjadj J, Aladjidi N, Fernandes H, et al. Pediatric Evans syndrome is associated with a high frequency of potentially damaging variants in immune genes. Blood. 2019;134(1):9-21.
Bachmann F. Structure, function and use of fibrinolysis-promoting and inhibiting factors. Arzneimittelforschung. 1988;38(3A):474-478.
van de Ven AA, Warnatz K. The autoimmune conundrum in common variable immunodeficiency disorders. Curr Opin Allergy Clin Immunol. 2015;15(6):514-524.
Thalhammer J, Kindle G, Nieters A, et al. Initial presenting manifestations in 16,486 patients with inborn errors of immunity include infections and noninfectious manifestations. J Allergy Clin Immunol. 2021;148(5):1332-1341.e5.
Pazmandi J, Kalinichenko A, Ardy RC, Boztug K. Early-onset inflammatory bowel disease as a model disease to identify key regulators of immune homeostasis mechanisms. Immunol Rev. 2019;287(1):162-185.
Kammermeier J, Lamb CA, Jones KDJ, et al. Genomic diagnosis and care co-ordination for monogenic inflammatory bowel disease in children and adults: consensus guideline on behalf of the British Society of Gastroenterology and British Society of Paediatric Gastroenterology, Hepatology and Nutrition. Lancet Gastroenterol Hepatol. 2023;8(3):271-286.
Lindahl H, Bryceson YT. Neuroinflammation associated with inborn errors of immunity. Front Immunol. 2021;12:827815.
Zhang SY, Harschnitz O, Studer L, Casanova JL. Neuron-intrinsic immunity to viruses in mice and humans. Curr Opin Immunol. 2021;72:309-317.
Rice GI, Meyzer C, Bouazza N, et al. Reverse-transcriptase inhibitors in the Aicardi-Goutieres syndrome. N Engl J Med. 2018;379(23):2275-2277.
Meyts I, Aksentijevich I. Deficiency of adenosine deaminase 2 (DADA2): updates on the phenotype, genetics, pathogenesis, and treatment. J Clin Immunol. 2018;38(5):569-578.
Hashem H, Kumar AR, Muller I, et al. Hematopoietic stem cell transplantation rescues the hematological, immunological, and vascular phenotype in DADA2. Blood. 2017;130(24):2682-2688.
Skoda-Smith S, Torgerson TR, Ochs HD. Subcutaneous immunoglobulin replacement therapy in the treatment of patients with primary immunodeficiency disease. Ther Clin Risk Manag. 2010;6:1-10.
Reisner Y, Kapoor N, Kirkpatrick D, et al. Transplantation for severe combined immunodeficiency with HLA-A,B,D,DR incompatible parental marrow cells fractionated by soybean agglutinin and sheep red blood cells. Blood. 1983;61(2):341-348.
Ruutu T, Peczynski C, Houhou M, et al. Current incidence, severity, and management of veno-occlusive disease/sinusoidal obstruction syndrome in adult allogeneic HSCT recipients: an EBMT transplant complications working party study. Bone Marrow Transplant. 2023;58:1209-1214.
Jamy O, Zeiser R, Chen YB. Novel developments in the prophylaxis and treatment of acute GVHD. Blood. 2023;142(12):1037-1046.
Dachy F, Furst S, Calmels B, et al. GVHD prophylaxis with post-transplant cyclophosphamide results in lower incidence of GVHD and allows faster immunosuppressive treatment reduction compared to antithymocyte globulin in 10/10 HLA-matched unrelated allogeneic hematopoietic cell transplantation. Bone Marrow Transplant. 2023;58:1179-1181.
Albert MH, Sirait T, Eikema DJ, et al. Hematopoietic stem cell transplantation for adolescents and adults with inborn errors of immunity: an EBMT IEWP study. Blood. 2022;140(14):1635-1649.
Ruttens D, Philippet P, HSCT Advisory Team, Bucciol G, Meyts I. Haploidentical stem cell transplantation with post-transplantation cyclophosphamide in high-risk chronic granulomatous disease patient with invasive Mucormycosis. J Clin Immunol. 2023;43:1758-1765.
Gungor T, Halter J, Klink A, et al. Successful low toxicity hematopoietic stem cell transplantation for high-risk adult chronic granulomatous disease patients. Transplantation. 2005;79(11):1596-1606.
Martinez C, Ebstein F, Nicholas SK, et al. HSCT corrects primary immunodeficiency and immune dysregulation in patients with POMP-related autoinflammatory disease. Blood. 2021;138(19):1896-1901.
Mudde A, Booth C. Gene therapy for inborn error of immunity - current status and future perspectives. Curr Opin Allergy Clin Immunol. 2023;23(1):51-62.
Eshka SFA, Bahador M, Gordan MM, Karbasi S, Tabar ZM, Basiri M. A systematic review of gene editing clinical trials. medRxiv; 2022. doi:10.1101/2022.11.24.22282599
Frangoul H, Altshuler D, Cappellini MD, et al. CRISPR-Cas9 gene editing for sickle cell disease and β-thalassemia. N Engl J Med. 2021;384(3):252-260.
Sharma A, Boelens JJ, Cancio M, et al. CRISPR-Cas9 editing of the HBG1 and HBG2 promoters to Treat sickle cell disease. N Engl J Med. 2023;389(9):820-832.
Pinho-Gomes AC, Cairns J. Evaluation of advanced therapy medicinal products by the National Institute for Health and Care Excellence (NICE): an updated review. Pharmacoecon Open. 2022;6(2):147-167.
Koleva-Kolarova R, Buchanan J, Vellekoop H, et al. Financing and reimbursement models for personalised medicine: a systematic review to identify current models and future options. Appl Health Econ Health Policy. 2022;20(4):501-524.
Gene therapies should be for all. Nat Med. 2021;27(8):1311.
Orchard Therapeutics Extends Runway into 2024, Focusing HSC Gene Therapy Platform Exclusively on Severe Neurometabolic Diseases and Research Platform | Orchard Therapeutics.
Fox T, Bueren J, Candotti F, et al. Access to gene therapy for rare diseases when commercialization is not fit for purpose. Nat Med. 2023;29(3):518-519.
Hadjadj J, Fremond ML, Neven B. Emerging place of JAK inhibitors in the treatment of inborn errors of immunity. Front Immunol. 2021;12:717388.
Donadieu J, Bellanne-Chantelot C. Genetics of severe congenital neutropenia as a gateway to personalized therapy. Hematology Am Soc Hematol Educ Program. 2022;2022(1):658-665.
Paller AS, Simpson EL, Siegfried EC, et al. Dupilumab in children aged 6 months to younger than 6 years with uncontrolled atopic dermatitis: a randomised, double-blind, placebo-controlled, phase 3 trial. Lancet. 2022;400(10356):908-919.
Zettl UK, Rommer PS, Aktas O, et al. Interferon beta-1a sc at 25 years: a mainstay in the treatment of multiple sclerosis over the period of one generation. Expert Rev Clin Immunol. 2023;19(11):1343-1359.
Vinh DC, Abel L, Bastard P, et al. Harnessing type I IFN immunity against SARS-CoV-2 with early administration of IFN-beta. J Clin Immunol. 2021;41(7):1425-1442.
Reincke SM, von Wardenburg N, Homeyer MA, et al. Chimeric autoantibody receptor T cells deplete NMDA receptor-specific B cells. Cell. 2023;186:5084-5097.e18.
Al-kuraishy HM, Al-Gareeb AI, Mostafa-Hedeab G, et al. Effects of β-blockers on the sympathetic and cytokines storms in Covid-19. Front Immunol. 2021;12:749291.
Clemente MA, Martínez-Milla J, Oliver E, et al. Metoprolol in critically ill patients with COVID-19. J Am Coll Cardiol. 2021;78(10):1001-1011.
Barbieri A, Robinson N, Palma G, Maurea N, Desiderio V, Botti G. Can beta-2-adrenergic pathway be a new target to combat SARS-CoV-2 hyperinflammatory syndrome?-Lessons learned from cancer. Front Immunol. 2020;11:588724.
Yang Y, Zhang Y, Xing X, et al. IL-6 translation is a therapeutic target of human cytokine release syndrome. J Exp Med. 2023;220(11):e20230577.