Clinical Case Database / Category: Patient Management

Severe Combined Immune Deficiency (SCID)

Publication details

Iman Nasr, Patrick FK Yong, Hilary J Longhurst
Foundation Years Journal, volume 8, issue 4, p.48 (123Doc Education, London, April 2014)


Severe Combined immunodeficiency syndrome (SCID) is a rare and serious type of inherited immune deficiency resulting in poor function of the immune system. A SCID diagnosis is a medical emergency which requires early treatment. This article aims to increase awareness, enabling early diagnosis and specialist referral for potentially lifesaving treatment.

Access the Clinical Cases Database

A subscription is required to read the full article. Please subscribe using one of the options below.

Foundation Years Clinical Cases Database£29.006 months
Add to cart
Foundation Years Clinical Cases Database£39.0012 months
Add to cart


Iman Nasr

Specialist Registrar in Clinical Immunology & Allergy
Barts Health NHS Trust
London, E1 2ES

Patrick FK Yong

Consultant Immunologist
Frimley Park Hospital
Portsmouth Road
Frimley, Surrey, GU16 7UJ

Hilary J Longhurst

Consultant Clinical Immunologist
Barts Health NHS Trust
London, E1 2ES


1) Verbsky J, Thakar M, Routes J. The Wisconsin approach to newborn screening for severe combined immunodeficiency. J Allergy Clin Immunol 2012; 129:622.
2) Verbsky JW, Baker MW, Grossman WJ, et al. Newborn screening for severe combined
immunodeficiency; the Wisconsin experience (2008-2011). J Clin Immunol 2012; 32:82.
3) Griffith LM, Cowan MJ, Notarangelo LD, et al. Improving cellular therapy for primary immune
deficiency diseases: recognition, diagnosis, and management. J Allergy Clin Immunol 2009; 124:1152.
4) Patel NC, Hertel PM, Estes MK, et al. Vaccine-acquired rotavirus in infants with severe combined immunodeficiency. N Engl J Med 2010; 362:314.
5) Tabori U, Mark Z, Amariglio N, et al. Detection of RAG mutations and prenatal diagnosis in families presenting with either T-B- severe combined immunodeficiency or Omenn’s syndrome. Clin Genet 2004; 65:322.
6) Buckley RH. Molecular defects in human severe combined immunodeficiency and approaches to immune reconstitution. Annu Rev Immunol 2004; 22:625.
7) Antoine C, Müller S, Cant A, et al. Long-term survival and transplantation of haemopoietic stem cells for immunodeficiencies: report of the European experience 1968-99. Lancet 2003; 361:553.
8) Helen Chapel ed., inborn immune deficiency, 2nd edition. Denmark: Hans Ole Christensen and Sven Fandrup; 2008


Conflict Of Interest

The Journal requires that authors disclose any potential conflict of interest that they may have. This is clearly stated in the Journal’s published “Guidelines for Authors”. The Journal follows the Guidelines against Conflict of Interest published in the Uniform Requirements for Manuscripts Submitted to Biomedical Journals (

Financial Statement

The authors of this article have not been paid. The Journal is financed by subscriptions and advertising. The Journal does not receive money from any other sources. The decision to accept or refuse this article for publication was free from financial considerations and was solely the responsibility of the Editorial Panel and Editor-in-Chief.

Patient Consent statement

All pictures and investigations shown in this article are shown with the patients’ consent. We require Authors to maintain patients’ anonymity and to obtain consent to report investigations and pictures involving human subjects when anonymity may be compromised. The Journal follows the Guidelines of the Uniform Requirements for Manuscripts ( The Journal requires in its Guidelines for Authors a statement from Authors that “the subject gave informed consent”.

Animal & Human Rights

When reporting experiments on human subjects, the Journal requires authors to indicate whether the procedures followed were in accordance with the ethical standards of the responsible committee on human experimentation (institutional and national) and with the HelsinkiDeclaration of 1975, as revised in 2008.

About the Clinical Cases Database

T​he Foundation Years Clinical Cases Database is​ a selection of 600 peer-reviewed clinical cases in the field of patient safety and clinical practice, specifically focused on the clinical information needs of junior doctors, based around the Foundation Year Curriculum programme (MMC). The cases have been chosen to align with the Foundation Year Curriculum.

The database is fully searchable, or can be browsed by medical specialty. Abstracts can be read free of charge, however a subscription is required in order to read the complete cases.