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Toplam kayıt 28, listelenen: 21-28
Natural History And Early Diagnosis Of Lad-1/Variant Syndrome
(Amer Soc Hematology, 2007)
The syndrome of leukocyte adhesion deficiency (LAD) combined with a severe Glanzmann-type bleeding disorder has been recognized as a separate disease entity. The variability in clinical and cell biological terms has remained ...
Accounting For Genetic Heterogeneity In Homozygosity Mapping: Application To Mendelian Susceptibility To Mycobacterial Disease
(B M J Publishing Group, 2011)
Introduction Genome-wide homozygosity mapping is a powerful method for locating rare recessive Mendelian mutations. However, statistical power decreases dramatically in the presence of genetic heterogeneity. Methods The ...
The Extended Clinical Phenotype of 64 Patients with Dedicator of Cytokinesis 8 Deficiency
(Mosby-Elsevier, 2015)
Background: Mutations in dedicator of cytokinesis 8 (DOCK8) cause a combined immunodeficiency (CID) also classified as autosomal recessive (AR) hyper-IgE syndrome (HIES). Recognizing patients with CID/HIES is of clinical ...
Recurrent Viral Infections Associated with a Homozygous Coro1A Mutation That Disrupts Oligomerization and Cytoskeletal Association
(Mosby-Elsevier, 2016)
Background: Coronin-1A (CORO1A) is a regulator of actin dynamics important for T-cell homeostasis. CORO1A deficiency causes T-B+ natural killer-positive severe combined immunodeficiency or T-cell lymphopenia with severe ...
Hematologically Important Mutations: Leukocyte Adhesion Deficiency (First Update)
(Academic Press Inc Elsevier Science, 2012)
Leukocyte adhesion deficiency (LAD) is an immunodeficiency caused by defects in the adhesion of leukocytes (especially neutrophils) to the blood vessel wall. As a result, patients with LAD suffer from severe bacterial ...
Human Cd3Γ, But Not Cd3Δ, Haploinsufficiency Differentially Impairs Γδ Versus Αβ Surface Tcr Expression
(2013)
Background The T cell antigen receptors (TCR) of αβ and γδ T lymphocytes are believed to assemble in a similar fashion in humans. Firstly, αβ or γδ TCR chains incorporate a CD3δε dimer, then a CD3γε dimer and finally a ζζ ...
Clinical Features Of Candidiasis In Patients With Inherited Interleukin 12 Receptor Beta 1 Deficiency
(Oxford Univ Press, 2014)
Background. Interleukin 12R beta 1 (IL-12R beta 1)-deficient patients are prone to clinical disease caused by mycobacteria, Salmonella, and other intramacrophagic pathogens, probably because of impaired interleukin ...