Phénotypes de 126 patients HIES marocains selon Score NIH.
DOI :
https://doi.org/10.62438/tunismed.v102i10.5148Mots-clés :
Erreurs de l’immunité innée , Population Marocaine , Syndrome HyperIgE , Déficits immunitaires combinés associés, Score NIH-HIESRésumé
Introduction : Les syndromes hyper-IgE constituent un groupe d'erreurs innées de l'immunité, parfois syndromiques, caractérisés cliniquement par la triade classique : eczéma chronique, infections staphylococciques cutanées et/ou pulmonaires et des niveaux élevés d'IgE sériques (> 2000 UI/ml ou > 10 x normale pour l’âge).
Objectif : Rapporter les aspects cliniques et immunologiques de patients marocains présentant un HIES probable ou possible selon le score NIH-HIES.
Méthodes: L'étude rétrospective couvrant la période de 1998 à 2023 a porté sur des patients marocains présentant des symptômes évocateurs de HIES et un score NIH ≥ 20.
Résultats : La médiane d’âge à la présentation des signes cliniques était de 0,5 ans et la médiane d’âge au début des symptômes était de 5,5 ans. Les principaux symptômes inclus étaient l'eczéma (66%), les abcès cutanés (32,5%), les pneumonies (32,5%), les otites (20 %), les candidoses (19%), la diarrhée (12%), la dysmorphie faciale (10,3 %), les adénopathies (9,5 %), la dilatation bronchique (8%), les pneumatocèles (8%), la conjonctivite (7,1%), la rhinite (6,3%), le retard psychomoteur (5,6%), les fractures pathologiques (4%), la rétention des dents lactéales (4 %), le retard cognitif (3,2%).
Conclusion : Cette étude représente la première description clinique d'une cohorte de patients marocains présentant un HIES selon les critères NIH. Bien que certaines orientations vers les gènes mutés aient été possibles sur la base du phénotype, une analyse moléculaire est nécessaire en raison du chevauchement des symptômes.
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Références
Grimbacher B, Holland SM, Gallin JI, Greenberg F, Hill SC, Malech HL, et al. Hyper-IgE Syndrome with Recurrent Infections — An Autosomal Dominant Multisystem Disorder. N Engl J Med. 1999 Mar 4;340(9):692–702.
Davis SD, Schaller J, Wedgwood RJ. Job’s Syndrome. Recurrent, “cold”, staphylococcal abscesses. Lancet. 1966 May 7;1(7445):1013–5.
Bennich HH, Ishizaka K, Johansson SGO, Rowe DS, Stanworth DR, Terry WD. Immunoglobulin E. A new class of human immunoglobulin. Immunochemistry. 1968 Jul;5(4):327–8.
Tangye SG, Al-Herz W, Bousfiha A, Cunningham-Rundles C, Franco JL, Holland SM, 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 Oct;42(7):1473–507.
Fadil I, Ailal F, Béziat V, Casanova JL, Boisson B, Bousfiha AA. Hyperimmunoglobulinémie E et Déficits Immunitaires Héréditaires Hyperimmunoglobulinemia E and hereditary immune deficiencies. LA TUNISIE MEDICALE. 2023;101.
Zhang Q, C Davis J, Lamborn I, F Freeman A, Jing H, Favreau-Lessard A, et al. Combined Immunodeficiency Associated with DOCK8 Mutations. The New England journal of medicine. 2009 Sep 1;361:2046–55.
Fadil I, Ben-Ali M, Jeddane L, Barbouche MR, Bousfiha AA. The Seven STAT3-Related Hyper-IgE Syndromes. J Clin Immunol. 2021 Aug;41(6):1384–9.
Minegishi Y, Saito M, Morio T, Watanabe K, Agematsu K, Tsuchiya S, et al. Human Tyrosine Kinase 2 Deficiency Reveals Its Requisite Roles in Multiple Cytokine Signals Involved in Innate and Acquired Immunity. Immunity. 2006 Nov;25(5):745–55.
Bousfiha A, Moundir A, Tangye SG, Picard C, Jeddane L, Al-Herz W, et al. The 2022 Update of IUIS Phenotypical Classification for Human Inborn Errors of Immunity. J Clin Immunol. 2022 Oct;42(7):1508–20.
Holland SM, DeLeo FR, Elloumi HZ, Hsu AP, Uzel G, Brodsky N, et al. STAT3 Mutations in the Hyper-IgE Syndrome. N Engl J Med. 2007 Oct 18;357(16):1608–19.
Béziat V, Li J, Lin JX, Ma CS, Li P, Bousfiha A, et al. A recessive form of hyper-IgE syndrome by disruption of ZNF341-dependent STAT3 transcription and activity. Science Immunology. 2018 Jun 15;3(24):eaat4956.
Spencer S, Köstel Bal S, Egner W, Lango Allen H, Raza SI, Ma CA, et al. Loss of the interleukin-6 receptor causes immunodeficiency, atopy, and abnormal inflammatory responses. J Exp Med. 2019 Sep 2;216(9):1986–98.
Schwerd T, Twigg SRF, Aschenbrenner D, Manrique S, Miller KA, Taylor IB, et al. A biallelic mutation in IL6ST encoding the GP130 co-receptor causes immunodeficiency and craniosynostosis. J Exp Med. 2017 Sep 4;214(9):2547–62.
Zhang Y, Yu X, Ichikawa M, Lyons JJ, Datta S, Lamborn IT, et al. Autosomal recessive PGM3 mutations link glycosylation defects to atopy, immune deficiency, autoimmunity, and neurocognitive impairment. J Allergy Clin Immunol. 2014 May;133(5):1400-1409.e5.
Felgentreff K, Siepe M, Kotthoff S, von Kodolitsch Y, Schachtrup K, Notarangelo LD, et al. Severe eczema and Hyper-IgE in Loeys–Dietz-syndrome — Contribution to new findings of immune dysregulation in connective tissue disorders. Clinical Immunology. 2014 Jan 1;150(1):43–50.
Lyons JJ, Liu Y, Ma CA, Yu X, O’Connell MP, Lawrence MG, et al. ERBIN deficiency links STAT3 and TGF-β pathway defects with atopy in humans. J Exp Med. 2017 Mar 6;214(3):669–80.
Renner ED, Hartl D, Rylaarsdam S, Young ML, Monaco-Shawver L, Kleiner G, et al. Comèl-Netherton syndrome defined as primary immunodeficiency. Journal of Allergy and Clinical Immunology. 2009 Sep;124(3):536–43.
Dorjbal B, Stinson JR, Ma CA, Weinreich MA, Miraghazadeh B, Hartberger JM, et al. Hypomorphic caspase activation and recruitment domain 11 (CARD11) mutations associated with diverse immunologic phenotypes with or without atopic disease. Journal of Allergy and Clinical Immunology. 2019 Apr;143(4):1482–95.
Grimbacher B, Schäffer AA, Holland SM, Davis J, Gallin JI, Malech HL, et al. Genetic linkage of hyper-IgE syndrome to chromosome 4. Am J Hum Genet. 1999 Sep;65(3):735–44.
Saikia B, Rawat A, Minz RW, Suri D, Pandiarajan V, Jindal A, et al. Clinical Profile of Hyper-IgE Syndrome in India. Front Immunol. 2021 Feb 26;12:626593.
Tavassoli M, Abolhassani H, Yazdani R, Ghadami M, Azizi G, Abdolrahim Poor Heravi S, et al. The first cohort of Iranian patients with hyper immunoglobulin E syndrome: A long‐term follow‐up and genetic analysis. Pediatric Allergy Immunology. 2019 Jun;30(4):469–78.
Gernez Y, Freeman AF, Holland SM, Garabedian E, Patel NC, Puck JM, et al. Autosomal Dominant Hyper-IgE Syndrome in the USIDNET Registry. The Journal of Allergy and Clinical Immunology: In Practice. 2018 May;6(3):996–1001.
Grimbacher B, Belohradsky BH, Holland SM. Immunoglobulin E in primary immunodeficiency diseases. Allergy. 2002 Nov;57(11):995–1007.
Yong PF, Freeman AF, Engelhardt KR, Holland S, Puck JM, Grimbacher B. An update on the hyper-IgE syndromes. Arthritis Research & Therapy. 2012;14(6):228.
Mogensen TH. STAT3 and the Hyper-IgE syndrome: Clinical presentation, genetic origin, pathogenesis, novel findings and remaining uncertainties. JAK-STAT. 2013 Apr;2(2):e23435.
Arlabosse T, Materna M, Riccio O, Schnider C, Angelini F, Perreau M, et al. New Dominant-Negative IL6ST Variants Expand the Immunological and Clinical Spectrum of GP130-Dependent Hyper-IgE Syndrome. J Clin Immunol. 2023;43(7):1566–80.
Béziat V, Tavernier SJ, Chen YH, Ma CS, Materna M, Laurence A, et al. Dominant-negative mutations in human IL6ST underlie hyper-IgE syndrome. Journal of Experimental Medicine. 2020 Mar 24;217(6):e20191804.
Wilson NW, Hogan MB. Otitis media as a presenting complaint in childhood immunodeficiency diseases. Curr Allergy Asthma Rep. 2008 Nov;8(6):519–24.
Wu J, Chen J, Tian ZQ, Zhang H, Gong RL, Chen TX, et al. Clinical Manifestations and Genetic Analysis of 17 Patients with Autosomal Dominant Hyper-IgE Syndrome in Mainland China: New Reports and a Literature Review. Journal of Clinical Immunology. 2017 Feb;37(2):166–79.
Chandesris MO, Melki I, Natividad A, Puel A, Fieschi C, Yun L, et al. Autosomal Dominant STAT3 Deficiency and Hyper-IgE Syndrome Molecular, Cellular, and Clinical Features From a French National Survey. Medicine (Baltimore). 2012 Jul;91(4):e1-19.
Stray-Pedersen A, Backe PH, Sorte HS, Mørkrid L, Chokshi NY, Erichsen HC, et al. PGM3 Mutations Cause a Congenital Disorder of Glycosylation with Severe Immunodeficiency and Skeletal Dysplasia. The American Journal of Human Genetics. 2014 Jul;95(1):96–107.
Gernez Y, Tsuang A, Smith TD, Shahjehan K, Hui Y, Maglione PJ, et al. Hemoptysis in a Patient with Elevated Immunoglobulin E. The Journal of Allergy and Clinical Immunology: In Practice. 2016 Nov;4(6):1054–8.
Wu J, Hong L, Chen TX. Clinical Manifestation of Hyper IgE Syndrome Including Otitis Media. Curr Allergy Asthma Rep. 2018 Oct;18(10):51.
Olaiwan A, Chandesris MO, Fraitag S, Lortholary O, Hermine O, Fischer A, et al. Cutaneous findings in sporadic and familial autosomal dominant hyper-IgE syndrome: A retrospective, single-center study of 21 patients diagnosed using molecular analysis. Journal of the American Academy of Dermatology. 2011 Dec;65(6):1167–72.
Schimke LF, Sawalle-Belohradsky J, Roesler J, Wollenberg A, Rack A, Borte M, et al. Diagnostic approach to the hyper-IgE syndromes: Immunologic and clinical key findings to differentiate hyper-IgE syndromes from atopic dermatitis. Journal of Allergy and Clinical Immunology. 2010 Sep;126(3):611-617.e1.
Woellner C, Gertz EM, Schäffer AA, Lagos M, Perro M, Glocker EO, et al. Mutations in STAT3 and diagnostic guidelines for hyper-IgE syndrome. Journal of Allergy and Clinical Immunology. 2010 Feb;125(2):424-432.e8.
Freeman AF, Holland SM. Clinical Manifestations of Hyper IgE Syndromes. Dis Markers. 2010;29(3–4):123–30.
Ben-Khemis L, Mekki N, Ben-Mustapha I, Rouault K, Mellouli F, Khemiri M, et al. A founder mutation underlies a severe form of phosphoglutamase 3 (PGM3) deficiency in Tunisian patients. Molecular Immunology. 2017 Oct;90:57–63.
Robinson WS, Arnold SR, Michael CF, Vickery JD, Schoumacher RA, Pivnick EK, et al. Case report of a young child with disseminated histoplasmosis and review of hyper immunoglobulin e syndrome (HIES). Clinical and Molecular Allergy. 2011;9(1):14.
Woellner C, Gertz EM, Schäffer AA, Lagos M, Perro M, Glocker EO, et al. Mutations in the signal transducer and activator of transcription 3 (STAT3) and diagnostic guidelines for the Hyper-IgE Syndrome. J Allergy Clin Immunol. 2010 Feb;125(2):424-432.e8.
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