Immunopathology & Immunotherapy
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Immunopathology & Immunotherapy
Latest advances in immunopathology diagnosis and treatment
Curated by Alfredo Corell
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Natural killer cell deficiency

Natural killer cell deficiency | Immunopathology & Immunotherapy | Scoop.it
Alfredo Corell's insight:
The Journal of Allergy and Clinical Immunology
Volume 132, Issue 3 , Pages 515-525, September 2013Natural killer cell deficiencyJordan S. Orange, MD, PhD


Natural killer (NK) cells are part of the innate immune defense against infection and cancer and are especially useful in combating certain viral pathogens. The utility of NK cells in human health has been underscored by a growing number of persons who are deficient in NK cells and/or their functions. This can be in the context of a broader genetically defined congenital immunodeficiency, of which there are more than 40 presently known to impair NK cells. However, the abnormality of NK cells in certain cases represents the majority immunologic defect. In aggregate, these conditions are termed NK cell deficiency. Recent advances have added clarity to this diagnosis and identified defects in 3 genes that can cause NK cell deficiency, as well as some of the underlying biology. Appropriate consideration of these diagnoses and patients raises the potential for rational therapeutic options and further innovation.

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Warts and all: Human papillomavirus in primary immunodeficiencies

Warts and all: Human papillomavirus in primary immunodeficiencies | Immunopathology & Immunotherapy | Scoop.it

Jennifer W. Leiding, MD,Steven M. Holland, MD

Laboratory of Clinical Infectious Diseases, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Md

Received 23 March 2012; received in revised form 6 June 2012; accepted 25 July 2012. published online 02 October 2012.

 

Infection with human papillomavirus (HPV) is almost universal and eventually asymptomatic, but pathologic infection with HPV is severe, recurrent, and recalcitrant to therapy. It is also an underappreciated manifestation of primary immunodeficiency. Mutations in EVER1, EVER2, GATA2, CXCR4, and dedicator of cytokinesis 8 (DOCK8) are typically associated with extensive HPV infections, whereas several other primary immune defects result in severe HPV much less frequently. We review immunodeficiencies with severe HPV infections and the mechanisms underlying them.

 

pdf article: http://download.journals.elsevierhealth.com/pdfs/journals/0091-6749/PIIS0091674912012973.pdf

 

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IDF SCID Newborn Screening Campaign | Immune Deficiency Foundation

IDF SCID Newborn Screening Campaign | Immune Deficiency Foundation | Immunopathology & Immunotherapy | Scoop.it
Alfredo Corell's insight:

A guide for parents who recieve an abnormal screen for SCID.

 

And the Newborn Screening Campaign, that in the near future will have the first sucess in Pennsylvania.

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Sindrome IPEX: Trasplante de medula osea

Hans Ochs de la Escuela de Medicina de la Universidad de Washington, en Seattle, describió un cuadro clínico genético, en cinco lactantes de pocos días de edad, que se caracterizaba por afectar diversos órganos y sistemas en forma devastadora.
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