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Genomics|Features|Severe Combined Immune Deficiency

Severe Combined Immune Deficiency

Severe Combined Immmuno Deficiency: Recent Insights - April 1, 2015

CDC Info

• Severe Combined Immunodeficiency (SCID)
• Newborn screening
• CDC funds Georgia, Oklahoma, and Virginia to screen for SCID(2013) 

Hematopoietic stem cell transplantation for severe combined immunodeficiency.
Wahlstrom JT et al. Curr Pediatr Rep 2015 Mar 1. (1) 1-10

Positive family history, infection, low Absolute Lymphocyte Cunt (ALC), and absent thymic shadow: diagnostic Clues for all molecular forms of Severe Combined Immunodeficiency (SCID).
McWilliams L M et al. J Allergy Clin Immunol Pract 2015 Mar 27.

Successful newborn screening for SCID in the Navajo Nation.
Kwan A et al. Clin. Immunol. 2015 Mar 8. (1) 29-34

Gene therapy for primary immunodeficiencies.
Fischer A et al. Clin. Genet. 2015 Feb 24.

Combined immunodeficiency due to MALT1 mutations, treated by hematopoietic cell transplantation.
Punwani D et al. J. Clin. Immunol. 2015 Feb (2) 135-46

Incidence of severe combined immunodeficiency through newborn screening in a Chinese population.
Chien Yin-Hsiu et al. J. Formos. Med. Assoc. 2015 Jan (1) 12-6

Severe combined immunodeficiency: recent developments and guidance on clinical management.
Rivers L et al. Arch. Dis. Child. 2015 Jan 6.

Diagnosing primary immunodeficiency: a practical approach for the non-immunologist.
Lehman H et al. Curr Med Res Opin 2015 Apr (4) 697-706

Newborn blood spot screening test using multiplexed real-time PCR to simultaneously screen for spinal muscular atrophy and severe combined immunodeficiency.
Taylor JL et al. Clin. Chem. 2015 Feb (2) 412-9

Screening for and treatments of congenital immunodeficiency diseases.
Verbsky J et al. Clin Perinatol 2014 Dec (4) 1001-15

Fiscal implications of newborn screening in the diagnosis of severe combined immunodeficiency.
Kubiak C et al. J Allergy Clin Immunol Pract 2014 Nov-Dec (6) 697-702

Higher prevalence of immune deficiency syndrome found in infants: study finds nearly twice as many newborns affected by severe combined immunodeficiency than previous research had estimated.
Levenson D et al. Am. J. Med. Genet. A 2014 Dec (12) vii-viii

Newborn screening for SCID: where are we now?
Buelow BJ et al. Expert Rev Clin Immunol 2014 Dec (12) 1649-57

Genome editing: a tool for research and therapy: targeted genome editing hits the clinic.
Lombardo A et al. Nat. Med. 2014 Oct (10) 1101-3

Stem cell transplantation for primary immunodeficiency diseases: the North American experience.
Pai SY et al. Curr Opin Allergy Clin Immunol 2014 Dec (6) 521-6

Severe Combined Immunodeficiency: Newborn Screening Saves Lives - August 28, 2014

What is SCID?  Severe combined immunodeficiency is a group of genetic disorders characterized by little or no immune response. SCID is sometimes known as "bubble boy" disease. Patients are susceptible to recurrent infections. New treatments can save many SCID patients. From the National Center Biotechnology Information, NIH

Newborn screening for severe combined immunodeficiency in 11 screening programs in the United States.
Antonia Kwan, et al. JAMA, August 20, 2014

Editorial: Newborn screening for severe combined immunodeficiency:  Progress and challenges.
Neil A. Holtzman. JAMA. 2014;312(7):701-702.  

Transplantation outcomes for severe combined immunodeficiency, 2000–2009
Sung-Yun Pai, et al. New England Journal Medicine, July 30, 2014

CDC information: Newborn screening: Saving Lives for 50 Years- CDC recently helped put into practice a newborn screening blood test for Severe Combined Immune Deficiency (SCID).

CDC funds Georgia, Oklahoma, and Virginia to screen for SCID (2013) 

The long quest for neonatal screening for SCID
R Buckley, J Allergy Immunology Infectious Diseases (2012)