Advances in basic and clinical immunology in 2012 - 27/02/13
Abstract |
Basic and clinical immunology articles published in the Journal in 2012 were mostly related to the expanding area of primary immunodeficiencies (PIDs). Novel forms of PID were identified by using whole-exome sequencing or after careful examination of flow cytometric data, as in the reports of lymphocyte-specific protein tyrosine kinase, CD27, and CD21 deficiencies. Absent IgG and IgA memory B cells were described in patients with hyper-IgE syndrome, which is consistent with defective antibody response and suggests a potential benefit of immunoglobulin replacement. Impaired production of antibodies to polysaccharide antigens by the human B-cell subset analog to murine B-1 cells was reported in a child with selective polysaccharide antibody deficiency. Increased production of inflammatory cytokines by monocyte-derived cells on Toll-like receptor activation was reported in patients with X-linked agammaglobulinemia, underscoring the important role of Bruton tyrosine kinase in modulation of inflammation. The mechanisms explaining susceptibility to yeast infections and development of chronic mucocutaneous candidiasis were extensively studied. Universal newborn screening for T-cell deficiencies is being implemented in several states, resulting in the diagnosis of a higher number of immunodeficient newborns than previously estimated. The use of laboratory testing to distinguish PIDs from HIV infection was clarified. In the management of PIDs, refinement of indication and strategies to hematopoietic stem cell transplantation resulted in improved outcomes. The use of anti–IL-6 mAbs showed promise as an alternative treatment in patients with Schnitzler syndrome.
Le texte complet de cet article est disponible en PDF.Key words : Immunology, primary immunodeficiencies, chronic mucocutaneous candidiasis, IL-17, intravenous immunoglobulin, combined variable immunodeficiency, cell immunity, severe combined immunodeficiency, newborn screening
Abbreviations used : ADA, AIRE, BCR, CARD, CD, CD40L, CGD, CMC, CMV, CTL, CVID, HIES, HSCT, IVIG, KREC, LCK, LRBA, PID, SCID, STAT, SYK, TLR, TREC, Treg, VODI
Plan
Supported by National Institutes of Health (NIH) grants RR0188, AI082978, AI036211, AI06944, and HD052102 and the David Fund of Texas Children’s Hospital. |
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Disclosure of potential conflict of interest: L. D. Notarangelo is a Board member for the Immune Disease Institute; is employed by Children's Hospital Boston; has received one or more grants from or has one or more grants pending with the NIH, the Jeffrey Modell Foundation, and the Wiskott-Aldrich Foundation; and has received royalties from UpToDate. W. T. Shearer has been supported by one or more grants from the NIH (AI082978). J. Chinen declares that he has no relevant conflicts of interest. |
Vol 131 - N° 3
P. 675-682 - mars 2013 Retour au numéroBienvenue sur EM-consulte, la référence des professionnels de santé.
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