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Differential Biological Role Of Cd3 Chains Revealed By Human Immunodeficiencies
(Amer Assoc Immunologists, 2007)
The biological role in vivo of the homologous CD3 gamma and delta invariant chains within the human TCR/CD3 complex is a matter of debate, as murine models do not recapitulate human immunodeficiencies. We have characterized, ...
Mutations In Stat3 And Il12Rb1 Impair The Development Of Human Il-17–Producing T Cells
(2008)
The cytokines controlling the development of human interleukin (IL) 17–producing T helper cells in vitro have been difficult to identify. We addressed the question of the development of human IL-17–producing T helper cells ...
Residual Type 1 Immunity In Patients Genetically Deficient For Interleukin 12 Receptor Β1 (Il-12Rβ1):Evidence for an IL-12Rb1–independent Pathway of IL-12 Responsiveness in Human T Cells
(2000)
Genetic lack of interleukin 12 receptor β1 (IL-12Rβ1) surface expression predisposes to severe infections by poorly pathogenic mycobacteria or Salmonella and causes strongly decreased, but not completely abrogated, interferon ...
A Primary Immunodeficiency Characterized By Defective Immunoglobulin Class Switch Recombination And Impaired Dna Repair
(2007)
Immunoglobulin class switch recombination (CSR) deficiencies are rare primary immunodeficiencies, characterized by a lack of switched isotype (IgG, IgA, or IgE) production, variably associated with abnormal somatic ...
Recurrent Salmonella Bacteremia in Interleukin-12 Receptor Beta 1 Deficiency
(Oxford Univ Press, 2006)
Interleukin-12 receptor beta 1 (IL12RB1) deficiency causes vulnerability to poorly virulent mycobacteria and nontyphoid Salmonella species. We describe a 2.5 year-old girl with IL12RB1 deficiency, caused by a homozygous; ...
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 ...