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Article
SLP76 Mutation Associated with Combined Immunodeficiency and EBV-Related Lymphoma
Increased susceptibility to develop severe forms of Epstein-Barr virus (EBV) infection in early age is a significant hallmark of an underlying primary immunodeficiency (PID). Here, we present immunologic and ...
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Article
Hypoparathyroidism-Retardation-Dysmorphism Syndrome due to a Variant in the Tubulin-Specific Chaperone E Gene as a Cause of Combined Immune Deficiency
Hypoparathyroidism-retardation-dysmorphism (HRD) syndrome is a disease composed of hypoparathyroidism, growth retardation, severe developmental delay, and typical dysmorphic features caused by the tubulin-spec...
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Article
Hyper IgM in tricho-hepato-enteric syndrome due to TTC37 mutation
Tricho-hepato-enteric syndrome (THES) (OMIM #222,470) is a rare autosomal recessive syndromic enteropathy whose primary manifestations are dysmorphism, intractable diarrhea, failure to thrive, hair abnormaliti...
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Article
B cell repertoire in patients with a novel BTK mutation: expanding the spectrum of atypical X-linked agammaglobulinemia
X-linked agammaglobulinemia (XLA) is caused by mutations in the Bruton tyrosine kinase) BTK) gene. Affected patients have severely reduced amounts of circulating B cells. Patients with atypical XLA may have resid...
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Article
A novel zeta-associated protein 70 homozygous mutation causing combined immunodeficiency presenting as neonatal autoimmune hemolytic anemia
Biallelic mutations in the zeta-associated protein 70 (ZAP70) gene cause combined immunodeficiency (CID). Neonatal screening for severe CID in Israel is implemented since 2015. We report on clinical, flow cytomet...
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Article
Open AccessAuthor Correction: Inhaled nitric oxide therapy in acute bronchiolitis: A multicenter randomized clinical trial
An amendment to this paper has been published and can be accessed via a link at the top of the paper.
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Article
Open AccessInhaled nitric oxide therapy in acute bronchiolitis: A multicenter randomized clinical trial
Currently, there are no approved treatments for infants with acute bronchiolitis, the leading cause for hospitalization of infants worldwide, and thus the recommended approach is supportive. Inhaled Nitric oxi...
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Article
The clinical and laboratory spectrum of dedicator of cytokinesis 8 immunodeficiency syndrome in patients with a unique mutation
Mutations in the dedicator of cytokinesis 8 (DOCK8) gene cause a combined immunodeficiency usually diagnosed as autosomal recessive hyper IgE syndrome. We sought to reveal the varying manifestations in patient...
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Article
Incidence of typically Severe Primary Immunodeficiency Diseases in Consanguineous and Non-consanguineous Populations
Primary immunodeficiency diseases are considered to be rare diseases; however, data on the exact birth incidences of these diseases are sparse. Southern Israel is inhabited by two major populations: a relative...
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Article
Matched unrelated bone marrow transplant for Omenn syndrome
Little information is currently available on the outcome and the long-term restoration of immune function in infants with Omenn syndrome (OS) treated with bone marrow transplantation (BMT). We prospectively fo...
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Article
Lycopene inhibition of IGF-induced cancer cell growth depends on the level of cyclin D1
Insulin-like growth factors (IGFs) play an important role in normal and cancerous cell proliferation. Moreover, in recent studies IGF-I has been implicated as a major cancer risk factor. The tomato carotenoid ...
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Article
Lycopene inhibition of cell cycle progression in breast and endometrial cancer cells is associated with reduction in cyclin D levels and retention of p27Kip1 in the cyclin E–cdk2 complexes
Numerous studies have demonstrated the anticancer activity of the tomato carotenoid, lycopene. However, the molecular mechanism of this action remains unknown. Lycopene inhibition of human breast and endometri...
