[Genetics of inborn errors of immunity].

التفاصيل البيبلوغرافية
العنوان:	[Genetics of inborn errors of immunity].
عنوان ترانسليتريتد:	Zur Genetik angeborener Krankheiten des Immunsystems.
المؤلفون:	Atschekzei F; Klinik für Rheumatologie und Immunologie, Medizinische Hochschule Hannover, Carl-Neuberg-Str. 1, 30625, Hannover, Deutschland. atschekzei.faranaz@mh-hannover.de., Schürmann G; Klinik für Rheumatologie und Immunologie, Medizinische Hochschule Hannover, Carl-Neuberg-Str. 1, 30625, Hannover, Deutschland.
المصدر:	Zeitschrift fur Rheumatologie [Z Rheumatol] 2022 May; Vol. 81 (4), pp. 328-331. Date of Electronic Publication: 2022 Mar 13.
نوع المنشور:	Journal Article
اللغة:	German
بيانات الدورية:	Publisher: Springer Country of Publication: Germany NLM ID: 0414162 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1435-1250 (Electronic) Linking ISSN: 03401855 NLM ISO Abbreviation: Z Rheumatol Subsets: MEDLINE
أسماء مطبوعة:	Publication: 2006- : Heidelberg : Springer Original Publication: Darmstadt, Steinkopff.
مواضيع طبية MeSH:	Genetic Diseases, Inborn*/immunology, Humans
مستخلص:	In the last 10 years there has been enormous progress in the field of inborn errors of immunity (IEI). The number of newly discovered diseases is growing exponentially, including not only rare but also frequent genetic defects. The spectrum of clinical phenotypes ascribed to IEI is also rapidly expanding. There is every reason to assume that this is only the tip of the iceberg and in the near future further IEI will be discovered with the help of genetic and immunological studies. Patients will benefit from the timely diagnostics as well as from the individualized treatment. (© 2022. The Author(s), under exclusive licence to Springer Medizin Verlag GmbH, ein Teil von Springer Nature.)
References:	Barreto ICDP, Barreto BAP, Cavalcante EGDN, Condino Neto A (2021) Immunological deficiencies: more frequent than they seem to be. J Pediatr 97(Suppl 1):S49–S58. (PMID: 10.1016/j.jped.2020.10.009) Bosticardo M, Pala F, Notarangelo LD (2021) RAG deficiencies: recent advances in disease pathogenesis and novel therapeutic approaches. Eur J Immunol 51:1028–1038. (PMID: 10.1002/eji.202048880) Conley ME, Dobbs AK, Farmer DM et al (2009) Primary B cell immunodeficiencies: comparisons and contrasts. Annu Rev Immunol 27:199–227. (PMID: 10.1146/annurev.immunol.021908.132649) Forbes LR, Vogel TP, Cooper MA et al (2018) Jakinibs for the treatment of immune dysregulation in patients with gain-of-function signal transducer and activator of transcription 1 (STAT1) or STAT3 mutations. J Allergy Clin Immunol 142:1665–1669. (PMID: 10.1016/j.jaci.2018.07.020) Giblett ER, Anderson JE, Cohen F, Pollara B, Meuwissen HJ (1972) Adenosine-deaminase deficiency in two patients with severely impaired cellular immunity. Lancet 2:1067–1069. (PMID: 10.1016/S0140-6736(72)92345-8) Hitzig WH, Biro Z, Bosch H, Huser HJ (1958) Agammaglobulinemia & alymphocytosis with atrophy of lymphatic tissue. Helv Paediatr Acta 13:551–585. (PMID: 13640454) Kiykim A, Ogulur I, Dursun E et al (2019) Abatacept as a long-term targeted therapy for LRBA deficiency. J Allergy Clin Immunol Pract 7:2790–2800.e15. (PMID: 10.1016/j.jaip.2019.06.011) Notarangelo LD, Bacchetta R, Casanova JL, Su HC (2020) Human inborn errors of immunity: an expanding universe. Sci Immunol. https://doi.org/10.1126/sciimmunol.abb1662. (PMID: 10.1126/sciimmunol.abb1662326512117647049) Tangye SG, Al-Herz W, Bousfiha A et al (2020) Correction to: human inborn errors of immunity: 2019 update on the classification from the International Union of Immunological Societies Expert Committee. J Clin Immunol 40:65. (PMID: 10.1007/s10875-020-00763-0) Verhagen MV, Trevisan V, Adu J, Owens CM, Booth C, Calder A (2020) Chest radiographs for distinguishing ADA-SCID from other forms of SCID. J Clin Immunol 40:259–266. (PMID: 10.1007/s10875-019-00733-1)
فهرسة مساهمة:	Keywords: Gain of function; Genotype; Immune dysregulation; Inborn errors of immunity; International Union of Immunological Societies (IUIS) Expert Committee; Loss of function; Monogenic immune defects; Phenotype Local Abstract: [Publisher, German] In den letzten 10 Jahren hat es einen enormen Fortschritt auf dem Gebiet der angeborenen Krankheiten des Immunsystems (IEI) gegeben. Die Zahl der neu entdeckten Erkrankungen wächst exponentiell, darunter nicht nur seltene, sondern auch häufige genetische Defekte. Auch das Spektrum der dem IEI zugeschriebenen klinischen Phänotypen erweitert sich rasant. Es gibt allen Grund zu der Annahme, dass wir nur die Spitze des Eisbergs sehen und weitere IEI in naher Zukunft mithilfe genetischer und immunologischer Studien entdeckt werden, wovon Patienten sowohl in der frühzeitigen Diagnostik als auch in der individualisierten Therapie profitieren werden.
تواريخ الأحداث:	Date Created: 20220314 Date Completed: 20220504 Latest Revision: 20220531
رمز التحديث:	20231215
DOI:	10.1007/s00393-022-01183-8
PMID:	35284991
قاعدة البيانات:	MEDLINE

Find this article in full text from Springer Verlag.

Full Text Finder

الوصف
تدمد:	1435-1250
DOI:	10.1007/s00393-022-01183-8