Severe combined immunodeficiency - Symptoms, Causes, Images, and Treatment Options

Diseases

Highlights & Basics

Key Highlights

Severe combined immunodeficiency (SCID) is a group of inherited genetic disorders characterized by a profound deficiency in cellular and humoral immunity arising from one of many T-cell maturation defects in the bone marrow or thymus gland.
Infants with SCID usually appear healthy at birth. Over time, they may develop: recurrent or severe infections; increased susceptibility to opportunistic infections; faltering growth; and/or chronic diarrhea.
Newborn screening for T-cell deficiency can alert for SCID before infections and other signs of SCID develop.
Early diagnosis is imperative as, without curative treatment (e.g., hematopoietic stem cell transplantation, gene therapy, enzyme replacement therapy), the condition can be fatal in the first year of life.
Key findings on examination include the absence of lymphoid tissue, poor weight gain, or diffuse erythematous rash. Other factors alerting for SCID include absolute lymphopenia and absent thymus.

Chest x-ray of an infant depicting an absent thymic shadow; infants with SCID may be athymic at time of presentation

Children's Hospital of Wisconsin, Department of Radiology; used with permission

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Definition

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Images

Chest x-ray of an infant depicting an absent thymic shadow; infants with SCID may be athymic at time of presentation
Chest x-ray of an infant depicting a normal thymic shadow

Citations

Key Articles

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 Oct 6 [Epub ahead of print].[Abstract]
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 Jun 24;1-35 [Epub ahead of print].[Abstract][Full Text]
Bonilla FA, Khan DA, Ballas ZK, et al. Practice parameter for the diagnosis and management of primary immunodeficiency. J Allergy Clin Immunol. 2015 Nov;136(5):1186-205.e1-78.[Abstract][Full Text]
Buckley RH. Molecular defects in human severe combined immunodeficiency and approaches to immune reconstitution. Ann Rev Immunol. 2004:22:625-55.[Abstract]
Heimall J, Buckley RH, Puck J, et al. Recommendations for screening and management of late effects in patients with severe combined immunodeficiency after allogenic hematopoietic cell transplantation: a consensus statement from the second pediatric blood and marrow transplant consortium international conference on late effects after pediatric HCT. Biol Blood Marrow Transplant. 2017 Aug;23(8):1229-40.[Abstract][Full Text]
Candotti F, de Villartay JP, Moshous D, et al. Severe combined immune deficiency. In: Sullivan KE, Stiehm ER, eds. Stiehm's immune deficiencies: inborn errors in immunity. 2nd ed. Cambridge, MA: Academic Press, 2020:153-205.

Other Online Resources

Advisory Committee on Heritable Disorders in Newborns and Children: recommended uniform screening panel

Referenced Articles

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