nach oben

Erschienen in:

10.08.2021 | Letter to Editor

Severe Combined Immunodeficiency (SCID)—the Irish Experience

verfasst von: Heather Burns, Abigail Collins, Paul Marsden, Terence J. Flood, Mary A. Slatter, Claire Booth, Jinhua Xu-Bayford, Timothy Ronan Leahy

Erschienen in: Journal of Clinical Immunology | Ausgabe 8/2021

Einloggen, um Zugang zu erhalten

Excerpt

Severe combined immunodeficiency (SCID) is an inborn error of immunity characterized by severe T-cell lymphopenia and significant impairment of antigen-specific cellular and humoral immunity. Infants are typically asymptomatic at birth, but present over time with severe and recurrent infections, failure to thrive, and autoimmunity [1]. Universal neonatal screening for SCID has been introduced in many developed countries, leading to earlier diagnosis and better clinical outcomes [2]. …

Nur mit Berechtigung zugänglich

Rivers L, Gaspar HB. Severe combined immunodeficiency: recent developments and guidance on clinical management. Arch Dis Child. 2015;100(7):667–72.CrossRef

Gaspar HB, Hammarström L, Mahlaoui N, Borte M, Borte S. The case for mandatory newborn screening for severe combined immunodeficiency (SCID). J Clin Immunol. 2014;34(4):393–7.CrossRef

Adams SP, Wilson M, Harb E, et al. Spectrum of mutations in a cohort of UK patients with ADA deficient SCID: segregation of genotypes with specific ethnicities. Clin Immunol. 2015;161(2):174–9.CrossRef

Flinn AM, Flood T, Prendiville T, Gennery AR, Leahy TR. Adenosine deaminase deficient SCID with myocardial hypertrophy. J Clin Immunol. 2021.

Pai SY, Logan BR, Griffith LM, et al. Transplantation outcomes for severe combined immunodeficiency, 2000–2009. N Engl J Med. 2014;371(5):434–46.CrossRef

Amatuni GS, Currier RJ, Church JA, et al. Newborn screening for severe combined immunodeficiency and T-cell lymphopenia in California, 2010–2017. Pediatrics. 2019;143(2).

Kwan A, Abraham RS, Currier R, et al. Newborn screening for severe combined immunodeficiency in 11 screening programs in the United States. JAMA. 2014;312(7):729–38.CrossRef

Dvorak CC, Haddad E, Buckley RH, et al. The genetic landscape of severe combined immunodeficiency in the United States and Canada in the current era (2010–2018). J Allergy Clin Immunol. 2019;143(1):405–7.CrossRef

Lynch SA, Crushell E, Lambert DM, et al. Catalogue of inherited disorders found among the Irish Traveller population. J Med Genet. 2018;55(4):233–9.CrossRef

10.

Relethford JH, Crawford MH. Genetic drift and the population history of the Irish travellers. Am J Phys Anthropol. 2013;150(2):184–9.CrossRef

11.

McGorrian C, Frazer K, Daly L, et al. The health care experiences of Travellers compared to the general population: the All-Ireland Traveller Health Study. J Health Serv Res Policy. 2012;17(3):173–80.CrossRef

12.

Hirschhorn R, Chakravarti V, Puck J, Douglas SD. Homozygosity for a newly identified missense mutation in a patient with very severe combined immunodeficiency due to adenosine deaminase deficiency (ADA-SCID). Am J Hum Genet. 1991;49(4):878–85.PubMedPubMedCentral

13.

Booth C, Algar VE, Xu-Bayford J, Fairbanks L, Owens C, Gaspar HB. Non-infectious lung disease in patients with adenosine deaminase deficient severe combined immunodeficiency. J Clin Immunol. 2012;32(3):449–53.CrossRef

14.

Kohn DB, Booth C, Shaw KL, et al. Autologous ex vivo lentiviral gene therapy for adenosine deaminase deficiency. N Engl J Med. 2021

15.

Fitzpatrick P, Leonard J, Twomey E, et al. Severe combined immunodeficiency syndrome presenting with disseminated BCG infection. Arch Dis Child. 2015;100(9):891.CrossRef

16.

Morillo-Gutierrez B, Worth A, Valappil M, Gaspar HB, Gennery AR. Chronic infection with rotavirus vaccine strains in UK children with severe combined immunodeficiency. Pediatr Infect Dis J. 2015;34(9):1040–1.CrossRef

17.

Azzari C, la Marca G, Resti M. Neonatal screening for severe combined immunodeficiency caused by an adenosine deaminase defect: a reliable and inexpensive method using tandem mass spectrometry. J Allergy Clin Immunol. 2011;127(6):1394–9.CrossRef

Titel: Severe Combined Immunodeficiency (SCID)—the Irish Experience
verfasst von: Heather Burns
Abigail Collins
Paul Marsden
Terence J. Flood
Mary A. Slatter
Claire Booth
Jinhua Xu-Bayford
Timothy Ronan Leahy
Publikationsdatum: 10.08.2021
Verlag: Springer US
Erschienen in: Journal of Clinical Immunology / Ausgabe 8/2021
Print ISSN: 0271-9142
Elektronische ISSN: 1573-2592
DOI: https://doi.org/10.1007/s10875-021-01106-3

Leitlinien kompakt für die Innere Medizin

Mit medbee Pocketcards sicher entscheiden.

^{Seit 2022 gehört die medbee GmbH zum Springer Medizin Verlag}

Kostenlos registrieren

Neu im Fachgebiet Innere Medizin

25.04.2024 | Hypotonie | Nachrichten

Update Innere Medizin

Bestellen Sie unseren Fach-Newsletter und bleiben Sie gut informiert.

Newsletter bestellen

Springer Medizin

Severe Combined Immunodeficiency (SCID)—the Irish Experience

Excerpt

Leitlinien kompakt für die Innere Medizin

Neu im Fachgebiet Innere Medizin

Niedriger diastolischer Blutdruck erhöht Risiko für schwere kardiovaskuläre Komplikationen

Therapiestart mit Blutdrucksenkern erhöht Frakturrisiko

Viel Bewegung in der Parkinsonforschung

Adjuvante Immuntherapie verlängert Leben bei RCC

Update Innere Medizin

Springer Medizin

Excerpt

Bitte loggen Sie sich ein, um Zugang zu diesem Inhalt zu erhalten

Weitere Artikel der Ausgabe 8/2021

Argentinian X-MAID Siblings with One of Them Manifesting a Rare Ophthalmological Complication

Simple Measurement of IgA Predicts Immunity and Mortality in Ataxia-Telangiectasia

Correction to: T Cell‑Epstein‑Barr Virus–Associated Hemophagocytic Lymphohistiocytosis (HLH) Occurs in Non‑Asians and Is Associated with a T Cell Activation State that Is Comparable to Primary HLH

A Novel STK4 Mutation Impairs T Cell Immunity Through Dysregulation of Cytokine-Induced Adhesion and Chemotaxis Genes

Second Tier Testing to Reduce the Number of Non-actionable Secondary Findings and False-Positive Referrals in Newborn Screening for Severe Combined Immunodeficiency

Is There a Clinical Significance of Very Low Serum Immunoglobulin E Level?

Leitlinien kompakt für die Innere Medizin

Neu im Fachgebiet Innere Medizin

Niedriger diastolischer Blutdruck erhöht Risiko für schwere kardiovaskuläre Komplikationen

Therapiestart mit Blutdrucksenkern erhöht Frakturrisiko

Viel Bewegung in der Parkinsonforschung

Adjuvante Immuntherapie verlängert Leben bei RCC

Update Innere Medizin