نتایج جستجو برای: hyper igm syndrome
تعداد نتایج: 655964 فیلتر نتایج به سال:
DOCK8 immunodeficiency syndrome (DIDS) is a combined immunodeficiency characterized by recurrent viral infections, severe atopy, and early onset malignancy. Genetic studies revealed large, unique deletions in patients from different families and ethnic backgrounds. Clinical markers of DIDS include atopic dermatitis, allergies, cutaneous viral infections, recurrent respiratory tract infections, ...
Several genetic defects in class switch recombination, which lead to a hyper-IgM syndrome, have been described recently in humans. In addition to the well known role of CD40-ligand-CD40 interaction, these pathologies demonstrate definitively the requirement of CD40-mediated nuclear factor kappa B activation and the essential role of a recently described molecule, the activation-induced cytidine...
Hyper-reactive malarial splenomegaly syndrome (HMSS) is a massive enlargement of the spleen due to an exaggerated immune response to repeated attacks of malaria. Tropical splenomegaly syndrome (TSS) is the most frequent cause of massive tropical splenomegaly in malarious areas [1-2]. It is seen more commonly among residents of endemic areas of malaria. It occurs mainly in tropical Africa, but a...
We studied a patient who had a typical seronegative rheumatoid arthritis (RA) and an immunodeficiency with hyper-IgM (HIM syndrome). CD40L was normally expressed by activated T cells, but CD40-mediated signal transduction was defective in B cells, preventing heavy chain switching (CD40L+ type of the HIM syndrome). These data suggest that a typical RA can develop in at least some patients with d...
Severe infections with Histoplasma capsulatum are commonly observed in patient with secondary immunodeficiency disorders. We report a two and a half years old boy previously healthy with disseminated cutaneous histoplasmosis. Using whole exome sequencing, we found an indel mutation at the CD40LG gene, suggesting a diagnosis of hyper-IgM (HIGM) syndrome, even in the absence of the usual features...
Thirteen Japanese patients with hyper-IgM syndrome but normal CD40 ligand were characterized. All patients had mutations in AID (activation-induced cytidine deaminase) gene. Five of them had a missense mutation of Arg112His. In all patients, serum IgG, IgA and IgE levels were undetectable, B cells failed to produce detectable amounts of IgE even if cultured them with anti-CD40 and IL-4. Somatic...
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