words: 249 Introduction words: 679 Discussion words: 1,360 Abbreviations used: CR, Citrobacter rodentium; FMO, Flavin monooxygenase; IFN γ, interferon-γ; IL, interleukin; P450, cytochrome P450; RAG1, Recombination Activating Gene 1; SCID, severe combined immune deficiency; TLR, Toll-like receptor; TNFα, tumor necrosis factor-α DMD #46557 This article has not been copyedited and formatted. The f...

Mutation of the -yc chain common to interleukin-2 (IL-2). IL4, IL-7, IL-9, and IL-15 receptors has been shown to be responsible for the X chromosome-linked severe combined immune deficiency (SCIOXI). Human SClDXl patients are characterized by an absence of T and natural killer cell differentiation. We report the case of a SClDXl patient who first had few detectable peripheral T cells, then deve...

C.B-17 scid (H-2d) mice are homozygous for the gene that causes severe combined immune deficiency (SCID). These mice have no T or B cell function, yet display normal natural killer (NK) activity. Irradiated SCID mice were challenged with marrow grafts to determine if antibodies are necessary for marrow allograft rejection. SCID mice rejected H-2/Hh-1 allogeneic marrow grafts. Moreover, this rej...

INTRODUCTION About 20% of the cases of human severe combined immunodeficiency are the result of the child being homozygous for defective genes encoding the enzyme adenosine deaminase. To our knowledge, the mutation pattern in Arab patients with severe combined immunodeficiency has never been reported previously. CASE PRESENTATION A 14-month-old Arab boy had clinical features typical of severe...

severe combined immunodeficiency is a true pediatric emergency; children with scid were the first patients with immunodeficiencies to be successfully transplanted with unrelated and t-cell-depleted, haploidentical bone marrow. the pattern of inheritance of scid is x-linked and autosomal recessive (ada def, jak3, rag1, rag2, il 7rα). in this case report, we describe a one-year-old boy with b+t- ...

BACKGROUND Invasive aspergillosis involving patients with neutropenia or severe immunosuppression, such as patients with hematologic malignancies is associated with high mortality. Patients with T-cell large granular lymphocytic leukemia (T-LGL) on the other hand are considered to be less vulnerable for severe opportunistic fungal infection as their course of disease is chronic and marked by le...