[HTML][HTML] Hematopoietic stem cell transplantation in primary immunodeficiency diseases: current status and future perspectives
Primary immunodeficiencies (PID) are disorders that for the most part result from mutations
in genes involved in immune host defense and immunoregulation. These conditions are …
in genes involved in immune host defense and immunoregulation. These conditions are …
Sphingosine-1-phosphate and lymphocyte egress from lymphoid organs
JG Cyster, SR Schwab - Annual review of immunology, 2012 - annualreviews.org
Much has been learned about how cells enter lymphoid tissues. But how do they leave?
Sphingosine-1-phosphate (S1P) has emerged over the past decade as a central mediator of …
Sphingosine-1-phosphate (S1P) has emerged over the past decade as a central mediator of …
[HTML][HTML] Combined Immunodeficiency Associated with DOCK8 Mutations
Q Zhang, JC Davis, IT Lamborn… - … England Journal of …, 2009 - Mass Medical Soc
Background Recurrent sinopulmonary and cutaneous viral infections with elevated serum
levels of IgE are features of some variants of combined immunodeficiency. The genetic …
levels of IgE are features of some variants of combined immunodeficiency. The genetic …
Primary immunodeficiencies
LD Notarangelo - Journal of Allergy and Clinical Immunology, 2010 - Elsevier
In the last years, advances in molecular genetics and immunology have resulted in the
identification of a growing number of genes causing primary immunodeficiencies (PIDs) in …
identification of a growing number of genes causing primary immunodeficiencies (PIDs) in …
Breaching multiple barriers: leukocyte motility through venular walls and the interstitium
S Nourshargh, PL Hordijk, M Sixt - Nature reviews Molecular cell …, 2010 - nature.com
The shuttling of leukocytes between the bloodstream and interstitial tissues involves different
locomotion strategies that are governed by locally presented soluble and cell-bound signals …
locomotion strategies that are governed by locally presented soluble and cell-bound signals …
Practice parameter for the diagnosis and management of primary immunodeficiency
FA Bonilla, DA Khan, ZK Ballas, J Chinen… - Journal of Allergy and …, 2015 - Elsevier
The American Academy of Allergy, Asthma & Immunology (AAAAI) and the American
College of Allergy, Asthma & Immunology (ACAAI) have jointly accepted responsibility for …
College of Allergy, Asthma & Immunology (ACAAI) have jointly accepted responsibility for …
Large deletions and point mutations involving the dedicator of cytokinesis 8 (DOCK8) in the autosomal-recessive form of hyper-IgE syndrome
KR Engelhardt, S McGhee, S Winkler, A Sassi… - Journal of Allergy and …, 2009 - Elsevier
BACKGROUND: The genetic etiologies of the hyper-IgE syndromes are diverse.
Approximately 60% to 70% of patients with hyper-IgE syndrome have dominant mutations in …
Approximately 60% to 70% of patients with hyper-IgE syndrome have dominant mutations in …
β-Actin specifically controls cell growth, migration, and the G-actin pool
TM Bunnell, BJ Burbach, Y Shimizu… - Molecular biology of the …, 2011 - Am Soc Cell Biol
Ubiquitously expressed β-actin and γ-actin isoforms play critical roles in most cellular
processes; however, their unique contributions are not well understood. We generated …
processes; however, their unique contributions are not well understood. We generated …
Guidelines for genetic studies in single patients: lessons from primary immunodeficiencies
Can genetic and clinical findings made in a single patient be considered sufficient to
establish a causal relationship between genotype and phenotype? We report that up to 49 of …
establish a causal relationship between genotype and phenotype? We report that up to 49 of …
Severe combined immunodeficiencies and related disorders
A Fischer, LD Notarangelo, B Neven… - Nature reviews Disease …, 2015 - nature.com
Severe combined immunodeficiencies (SCIDs) comprise a group of rare, monogenic
diseases that are characterized by an early onset and a profound block in the development …
diseases that are characterized by an early onset and a profound block in the development …