نتایج جستجو برای: hyper immunoglobulin e syndrome
تعداد نتایج: 1675937 فیلتر نتایج به سال:
*Donald C. Vinh,1 *Smita Y. Patel,1 Gulbu Uzel,1 Victoria L. Anderson,1 Alexandra F. Freeman,1,2 Kenneth N. Olivier,1 Christine Spalding,1 Stephen Hughes,3 Stefania Pittaluga,4 Mark Raffeld,4 Lynn R. Sorbara,5 Houda Z. Elloumi,1 Douglas B. Kuhns,6 Maria L. Turner,7 Edward W. Cowen,7 Danielle Fink,6 Debra Long-Priel,6 Amy P. Hsu,1 Li Ding,1 Michelle L. Paulson,1 Adeline R. Whitney,8 Elizabeth P....
Abstract There are two forms of hyper-immunoglobulin E syndromes (HIES): a dominant form (AD-HIES) is caused by mutations in signal transducer and activator transcription 3 (STAT3), recessive (AR-HIES) dedicator cytokinesis 8 (DOCK8). DOCK8 autosomal hyper IgE syndrome patients have more symptomatic neurologic disease than those with STAT3 deficiency. Involvement the central nervous system HIES...
In Table 1, for Family RP-1929 the nucleotide change 'c.9079dupA' and protein change 'p.Arg3027Lysfs*9' were incorrectly given as 'c.9142dupA' and 'p.Arg3048Lysfs*9' respectively. In Table 2, for Family RP-1147 the cDNA 'c.830G > A' and protein 'p.Arg277Gln' were incorrectly given as 'c.1037G > A' and 'p.Arg346Gln' respectively. This work is licensed under a Creative Commons Attribution 4.0 Int...
Background: Job’s syndrome or hyper-immunoglobulin E (IgE) (HIES) is an extremely rare primary immunodeficiency disease with approximate annual incidence of less than 1/1000000. It characterized by recurrent cold staphylococcal infections, unusual eczematous dermatitis, severe lung and extensively high concentrations the serum antibody IgE. Case Presentation: A typical case a family history Kaw...
We describe a 20-month-old girl with hypereosinophilia, hyper-immunoglobulin (Ig) E syndrome, and atopic dermatitis. Her peripheral eosinophil count and IgE plasma levels were 2.65 x 10(9)/L and 6702 IU/mL, respectively. Specific IgE levels for a variety of foods and inhalants were high and single-blind food challenges were positive for cow's milk, hen's egg, oat, wheat, and soy. When the patie...
Hyper immunoglobulin-E (IgE) syndrome is an autosomal immune deficiency disease. It is characterized by an increase in IgE and eosinophil count with both T-cell and B-cell malfunction. Here, we report an 8-year-old boy whose disease started with an unusual skin manifestation. When 6 months old he developed generalized red, nontender nodules and pathologic report of the skin lesion was unremarka...
Amelogenesis imperfecta (AI) is a collection of diverse inherited disorders featuring dental-enamel defects in the absence of significant nondental symptoms. AI phenotypes vary and are categorized as hypoplastic, hypocalcified, and hypomaturation types. Phenotypic specificity to enamel has focused research on genes encoding enamel-matrix proteins. We studied two families with autosomal-dominant...
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