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Genomics|Features|Primary Immunodeficiency Disorders

Primary Immunodeficiency Disorders

Primary Immunodeficiency Disorders: Public Health and Genomic Insights- May 26, 2015

CDC and Related Info

• Newborn Screening: Severe Combined Immunodeficiency (SCID)
• Newborn screening: Saving Lives for 50 Years
• CDC funds Georgia, Oklahoma, and Virginia to screen for SCID(2013)

Primary immunodeficiencies with elevated IgE.
Mogensen TH et al. Int. Rev. Immunol. 2015 May 13.

Inherited and acquired immunodeficiencies underlying tuberculosis in childhood.
Boisson-Dupuis S et al. Immunol. Rev. 2015 Mar (1) 103-20

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

Mendelian susceptibility to mycobacterial disease: genetic, immunological, and clinical features of inborn errors of IFN-γ immunity.
Bustamante J et al. Semin. Immunol. 2014 Dec (6) 454-70

Comparison of diagnostic criteria for common variable immunodeficiency disorder.
Ameratunga R et al. Front Immunol 2014 415

A clinical and laboratory approach to the evaluation of innate immunity in pediatric CVID patients.
Kutukculer N et al. Front Immunol 2015 145

Novel primary immunodeficiency candidate genes predicted by the human gene connectome.
Itan Y et al. Front Immunol 2015 142

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

Important differences in the diagnostic spectrum of primary immunodeficiency in adults versus children.
Abolhassani H et al. Expert Rev Clin Immunol 2015 Feb (2) 289-302

Wiskott-Aldrich Syndrome - April 22, 2015

What is Wiskott-Aldrich syndrome? From the NIH Genetics Home Reference

Check out genetic conditions and tests associated with Wiskott-Aldrich syndrome, from the NIH Genetic Testing Registry

Outcomes following gene therapy in patients with severe Wiskott-Aldrich syndrome.
Hacein-Bey AS et al. JAMA 2015 Apr 21. (15) 1550-1563

New era of medicine begins as first children cured of genetic disorder, The Telegraph, Apr 21

Clinical applications of gene therapy for primary immunodeficiencies.
Cicalese MP et al. Hum. Gene Ther. 2015 Apr 10.

Unraveling the repertoire in wiskott-Aldrich syndrome.
Petersen SH et al. Front Immunol 2014 539

Gene therapy for Wiskott-Aldrich syndrome.
Bosticardo M et al. Curr Gene Ther 2014 (6) 413-21

Wiskott-Aldrich syndrome: diagnosis, current management, and emerging treatments.
Buchbinder D et al. Appl Clin Genet 2014 55-66

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

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

Primary Immunodeficiency Disorders: Genetics & Public Health- October 16, 2014

CDC paper Prevalence and morbidity of primary immunodeficiency diseases, United States 2001–2007.
Kobrynski L, Waltenburg Powell R, Bowen S J Clin Immunol. 2014 Sep 26.  

CDC information: Newborn Screening: Severe Combined Immunodeficiency (SCID)

CDC Flickr album: Newborn Screening: Family Stories includes stories from families with children affected by SCID

CDC Flickr album: Newborn Screening: Public Health Stories CDC scientist Robert Vogt talks about his work on newborn screening for SCID

Primary immunodeficiency disorders, mostly inherited, weaken the immune system, allowing repeated infections and other health problems to occur more easily, from the Mayo Clinic

Global overview of primary immunodeficiencies: a report from Jeffrey Modell Centers worldwide focused on diagnosis, treatment, and discovery
Vicki Modell, et al. Immunologic Research March 2014

The 10 warning signs of primary immunodeficiency disorders 

Applying public health strategies to primary immunodeficiency diseases: A potential approach to genetic disorders
MMWR (2004)

The use of databases in primary immunodeficiencies.
Kindle G, et al. Curr Opin Allergy Clin Immunol. 2014 Sep 15.

Contribution of high-throughput DNA sequencing to the study of primary immunodeficiencies.
Picard C, et al. Eur J Immunol. 2014 Oct;44(10):2854-61.

Utility of next generation sequencing in clinical primary immunodeficiencies.
Raje N, et al. Curr Allergy Asthma Rep. 2014 Oct;14(10):468.

Newborn screening for severe combined immunodeficiency in 11 screening programs in the United States.
Kwan A, et al. JAMA. 2014 Aug 20;312(7):729-38.

Guidelines for genetic studies in single patients: lessons from primary immunodeficiencies
Casanova JL, et al. J Exp Med 2014 Oct

Increased safety of gene therapy for X-linked SCID, by Rebecca Burbidge, PHG Foundation, Oct 13

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)