Showing papers by "Jacov Levy published in 2004"
TL;DR: AID-deficient patients are prone to infections and lymphoid hyperplasia, which may be prevented by early-onset IVIG replacement, but also to autoimmune and inflammatory disorders.
230 citations
TL;DR: A patient with a large in-frame deletion of 12165 nucleotides in IL12RB1, encompassing exons 8 to 13 and resulting in the surface expression of nonfunctional IL-12R beta1 is described, defining a novel genetic form of IL- 12Rbeta1 deficiency.
121 citations
TL;DR: It is demonstrated that the presence of a trk A mutation in patient B cells results in a novel lymphocyte signaling defect in these B cells, and NGF failed to induce Trk A phosphorylation, cytoskeleton assembly, or MAP kinase activation.
Abstract: Congenital insensitivity to pain with anhidrosis is a syndrome characterized by loss of pain and sensation. The condition frequently evolves into deep wounds and prolonged healing times. Anhidrosis is another prominent component of the disorder. Often associated with recurrent episodes of unexplained fever, it can result in patient mortality. Recent investigations point to Trk A, the high affinity receptor for nerve growth factor (NGF), as a candidate for the site of the mutation that causes the disorder. Functional NGF receptors, such as Trk A and the Trk family of tyrosine kinases, are essential for NGF signaling of human lymphocytes. In this study, we demonstrated that the presence of a trk A mutation in patient B cells results in a novel lymphocyte signaling defect. In these B cells, NGF failed to induce Trk A phosphorylation, cytoskeleton assembly, or MAP kinase activation. These abnormalities may explain some of the clincal features of the disease.
31 citations
15 citations
12 citations
TL;DR: Ocular manifestations of WZS differ from those in Stickler syndrome, indicating that the two likely represent distinct clinical entities, and an ophthalmologist should follow children with this disorder from an early age to prevent amblyopia.
Abstract: Purpose Weissenbacher–Zweymuller syndrome (WZS) is an autosomal recessive disorder of delayed skeletal maturation. Its characteristic features include rhizomelic dwarfism with metaphyseal and vertebral changes. It has been challenged whether WZS is a part of the spectrum of Stickler syndrome. We report ocular findings in the largest ever-presented series of patients with WZS. Methods Patients underwent a paediatric examination, including assessment of growth and development, genetic work-up and X-ray of vertebra and long bones. All had a complete ophthalmic examination, cycloplegic refraction, and face and body photography. Results All patients had hypertelorism and protruding eyes. Four patients had refractive errors necessitating optical correction ranging from +3 to –8 D. Two patients had strabismus. None had vitreoretinal degeneration, glaucoma, or cataract. Conclusions Ocular manifestations of WZS differ from those in Stickler syndrome, indicating that the two likely represent distinct clinical entities. Strabismus and various refractive errors often accompany WZS. An ophthalmologist should follow children with this disorder from an early age to prevent amblyopia.
9 citations
TL;DR: A 2-year-old boy with congenital insensitivity to pain with anhidrosis (CIPA) was referred with a 2-day history of left periorbital swelling and mucoid conjunctival discharge and a recurrent intraconal abscess.
Abstract: A 2-year-old boy with congenital insensitivity to pain with anhidrosis (CIPA) was referred with a 2-day history of left periorbital swelling and mucoid conjunctival discharge. Marked worsening was noted despite intramuscular ceftriaxone treatment for 3 days, with marked proptosis, conjunctival chemo
8 citations
TL;DR: Acute angle-closure glaucoma and pupil-involving complete third nerve palsy as presenting signs of thrombosed cavernous sinus aneurysm.
Abstract: Acute angle-closure glaucoma and pupil-involving complete third nerve palsy as presenting signs of thrombosed cavernous sinus aneurysm
7 citations