The Role of Recent Admixture in Forming the Contemporary West Eurasian Genomic Landscape
Current Biology 25(21):2878 (2015)
The Role of Recent Admixture in Forming the Contemporary West Eurasian Genomic Landscape.
Current Biology 25(19):2518 (2015)
Over the past few years, studies of DNA isolated from human fossils and archaeological remains have generated considerable novel insight into the history of our species. Several landmark papers have described the genomes of ancient humans across West Eurasia, demonstrating the presence of large-...
The extended clinical phenotype of 64 patients with dedicator of cytokinesis 8 deficiency.
Journal of Allergy and Clinical Immunology 136(2):402 (2015)
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 importance because of the difference in prognosis and management.
We sought to define t...
IMGT®, the international ImMunoGeneTics information system® 25 years on.
Nucleic Acids Research 43(Database issue):D413 (2015)
IMGT(®), the international ImMunoGeneTics information system(®)(http://www.imgt.org) is the global reference in immunogenetics and immunoinformatics. By its creation in 1989 by Marie-Paule Lefranc (Université de Montpellier and CNRS), IMGT(®) marked the advent of immunoinformatics, which emerged...
Dedicator of cytokinesis 8-deficient patients have a breakdown in peripheral B-cell tolerance and defective regulatory T cells.
Journal of Allergy and Clinical Immunology 134(6):1365 (2014)
Dedicator of cytokinesis 8 (DOCK8) deficiency is typified by recurrent infections, increased serum IgE levels, eosinophilia, and a high incidence of allergic and autoimmune manifestations.
We sought to determine the role of DOCK8 in the establishment and maintenance of human B-cell tolerance.
Plasmacytoid dendritic cell depletion in DOCK8 deficiency: rescue of severe herpetic infections with IFN-α 2b therapy.
Journal of Allergy and Clinical Immunology 133(6):1753 (2014)
Flow cytometry biomarkers distinguish DOCK8 deficiency from severe atopic dermatitis.
Clinical Immunology 150(2):220 (2014)
DOCK8 deficiency is a primary immunodeficiency characterized by recurrent sinopulmonary infections, dermatitis with cutaneous infections, elevated serum IgE levels, eosinophilia, and a high incidence of food allergy. Given the seriousness of DOCK8 deficiency, it is important to recognize it earl...
The intellectual disability of trisomy 21: differences in gene expression in a case series of patients with lower and higher IQ.
European Journal of Human Genetics 21(11):1253 (2013)
Trisomy 21 (T21), or Down syndrome (DS), is the most frequent and recognizable cause of intellectual disabilities. The level of disability, as evaluated by the intelligence quotient (IQ) test, varies considerably between patients independent of other factors. To determine the genetic or molecula...
Deep dermatophytosis and inherited CARD9 deficiency.
New England Journal of Medicine 369(18):1704 (2013)
Deep dermatophytosis is a severe and sometimes life-threatening fungal infection caused by dermatophytes. It is characterized by extensive dermal and subcutaneous tissue invasion and by frequent dissemination to the lymph nodes and, occasionally, the central nervous system. The condition is diff...
A homozygous mucosa-associated lymphoid tissue 1 (MALT1) mutation in a family with combined immunodeficiency.
Journal of Allergy and Clinical Immunology 132(1):151 (2013)
Combined immunodeficiency (CID) is characterized by severe recurrent infections with normal numbers of T and B lymphocytes but with deficient cellular and humoral immunity. Most cases are sporadic, but autosomal recessive inheritance has been described. In most cases, the cause of CID remains un...
Lack of TEK Gene Mutation in Patients with Cutaneomucosal Venous Malformations from the North-Western Region of Algeria.
Genetics Research International 2013:784789 (2013)
Background. Venous malformations (VM) result from an error in vascular morphogenesis. The first gene suspected in their development is the TEK gene (tyrosine kinase, endothelial). Mutations of this gene have been identified in several Belgian families with a dominant form of the disease. Therefo...
Homozygous stop mutation in the SNX10 gene in a consanguineous Iraqi boy with osteopetrosis and corpus callosum hypoplasia.
European Journal of Medical Genetics 56(1):32 (2013)
Recently a mutation in the SNX10 gene that belongs to the sorting nexin family was identified as a cause of a new subset of human autosomal recessive osteopetrosis. Here, we identified a novel homozygous mutation (c.46C > T, p.Arg16X) in SNX10, in an Iraqi boy from a consanguineous family with a...
Association Analysis of IL10, TNF-α, and IL23R-IL12RB2 SNPs with Behçet's Disease Risk in Western Algeria.
Frontiers in Immunology 4:342 (2013)
We have conducted the first study of the association of interleukin (IL)-10, tumor necrosis factor alpha (TNF-α), and IL23R-IL12RB2 region single nucleotide polymorphisms (SNPs) with Behçet's disease (BD) in Western Algeria.
A total of 51 BD patients and 96 unrelated controls from West region of...
A novel homozygous mutation in recombination activating gene 2 in 2 relatives with different clinical phenotypes: Omenn syndrome and hyper-IgM syndrome.
Journal of Allergy and Clinical Immunology 130(6):1414 (2012)
DNA replication is altered in Immunodeficiency Centromeric instability Facial anomalies (ICF) cells carrying DNMT3B mutations.
European Journal of Human Genetics 20(10):1044 (2012)
ICF syndrome is a rare autosomal recessive disorder that is characterized by Immunodeficiency, Centromeric instability, and Facial anomalies. In all, 60% of ICF patients have mutations in the DNMT3B (DNA methyltransferase 3B) gene, encoding a de novo DNA methyltransferase. In ICF cells, constitu...
Clinical, molecular, and cellular immunologic findings in patients with SP110-associated veno-occlusive disease with immunodeficiency syndrome.
Journal of Allergy and Clinical Immunology 130(3):735 (2012)
Mutations in the SP110 gene result in infantile onset of the autosomal recessive primary immunodeficiency disease veno-occlusive disease with immunodeficiency syndrome (VODI), which is characterized by hypogammaglobulinemia, T-cell dysfunction, and a high frequency of hepatic veno-occlusive dise...
DOCK8 functions as an adaptor that links TLR-MyD88 signaling to B cell activation.
Nature Immunology 13(6):612 (2012)
The adaptors DOCK8 and MyD88 have been linked to serological memory. Here we report that DOCK8-deficient patients had impaired antibody responses and considerably fewer CD27(+) memory B cells. B cell proliferation and immunoglobulin production driven by Toll-like receptor 9 (TLR9) were considera...
Human Gm, Km, and Am allotypes and their molecular characterization: a remarkable demonstration of polymorphism.
Methods in Molecular Biology 882:635 (2012)
Human immunoglobulin allotypes are antigenic determinants (or "markers") determined serologically, classically by hemagglutination inhibition, on the human immunoglobulin (IG) heavy and light chains. The allotypes have been identified on the gamma1, gamma2, gamma3, and alpha2 heavy chains (they ...
Update in chronic obstructive pulmonary disease: role of antioxidant and metabolizing gene polymorphisms.
Experimental Lung Research 37(6):364 (2011)
Chronic obstructive pulmonary disease (COPD) is characterized by systemic and local chronic inflammation and oxidative stress. The sources of the increased oxidative stress in COPD patients derive from the increased burden of inhaled oxidants such as cigarette smoke and other forms of particulat...
Atypical hemolytic uremic syndrome in the Tunisian population.
International Urology and Nephrology 43(2):559 (2011)
Hemolytic uremic syndrome consists of a triad of acquired hemolytic anemia, thrombocytopenia and renal failure.
Our objectives were to determine epidemiology, clinical and laboratory characteristics of patients with atypical hemolytic uremic syndrome (aHUS) to determine the relationship between ...