- Leukocyte adhesion deficiency III: a group of integrin activation defects in hematopoietic lineage cellsAmos Etzioni
Meyer Children s Hospital, B Rappaport Faculty of Medicine, Technion, Haifa 31096, Israel
Curr Opin Allergy Clin Immunol 4:485-90. 2004..The clinical manifestations and molecular basis of this syndrome and related cases will be reviewed...
- Loss of Kindlin-3 in LAD-III eliminates LFA-1 but not VLA-4 adhesiveness developed under shear flow conditionsEugenia Manevich-Mendelson
Department of Immunology, Weizmann Institute of Science, Rehovot, Israel
Blood 114:2344-53. 2009..Deletion of the putative beta(1) Kindlin-3 binding site also retained VLA-4 adhesiveness. Thus, our study provides the first evidence that Kindlin-3 is more critical to LFA-1 than to VLA-4-adhesive functions in human lymphocytes...
- Genetic etiologies of leukocyte adhesion defectsAmos Etzioni
Meyer s Children Hospital, Rappaport Faculty of Medicine, Technion, Haifa, Israel
Curr Opin Immunol 21:481-6. 2009..Just recently mutations in Kindlin 3, a newly recognized component, which binds the cytoplasmic tail of integrin, and is important in integrin activation, the second phase of the adhesion cascade, were found...
- The hyper IgM syndrome--an evolving storyAmos Etzioni
Department of Pediatrics, Meyer Children s Hospital, B Rappaport Faculty of Medicine, Technion, Haifa, Israel 31096
Pediatr Res 56:519-25. 2004..Thus, the molecular definition of these rare primary immune deficiency disorders has shed light on the complex events leading to the production of high-affinity, antigen-specific antibodies of different isotypes...
- Fatal varicella associated with selective natural killer cell deficiencyAmos Etzioni
Meyer Children s Hospital, Department of Immunology, B Rappaport Medical School, Technion, Haifa, Israel
J Pediatr 146:423-5. 2005..No natural killer (NK) cells were detected, and NK activity was markedly decreased. The interleukin (IL)15/IL15R signaling pathway was intact. This case emphasizes the role of NK cells in controlling herpes viral infection...
- Immunodeficiency: nobody is immuneAmos Etzioni
Meyer Children s Hospital, Rambam Medical Center, Haifa, Israel
Isr Med Assoc J 7:756-7. 2005
- Leukocyte adhesion deficiency (LAD) type II/carbohydrate deficient glycoprotein (CDG) IIc founder effect and genotype/phenotype correlationAmos Etzioni
Department of Pediatrics and Immunology, Rambam Med Ctr, B Rapapport School of Medicine, Technion, Haifa, Israel
Am J Med Genet 110:131-5. 2002..Genotype/phenotype correlation studies show that the two different mutations are distinguished by differences in response to fucose supplementation and in the clinical phenotypes...
- Novel aspects of hypogammaglobulinemic statesAmos Etzioni
Department of Pediatrics, Rambam Medical Center, Department of Immunology, Rappaport Faculty of Medicine, Technion Israel Institute of Technology, Haifa, Israel
Isr Med Assoc J 4:294-7. 2002
- Novel aspects of phagocytic cell disordersA Etzioni
Department of Pediatrics, Rambam Medical Centre and B Rappaport School of Medicine, Technion, Haifa, Israel
Curr Opin Allergy Clin Immunol 1:535-40. 2001..Novel therapeutic modalities to treat phagocyte abnormalities, which are currently under clinical trials, are also discussed...
- Ataxia-telangiectasia in twins presenting as autosomal recessive hyper-immunoglobulin M syndromeAmos Etzioni
Department of Pediatrics, Meyer Children s Hospital, Haifa, Israel
Isr Med Assoc J 9:406-7. 2007
- Leukocyte adhesion deficiencies: molecular basis, clinical findings, and therapeutic optionsAmos Etzioni
Meyer Children Hospital, the Rappaport School of Medicine, Technion, Haifa, Israel
Adv Exp Med Biol 601:51-60. 2007..Although the primary defect is still unknown, it is clear that all hematopoietic integrin activation processes are defective, which lead to severe infection as observed in LAD I and to marked increase tendency for bleeding problems...
- Leukocyte adhesion deficiency II-from A to almost ZA Etzioni
Department of Pediatrics, Rambam Medical Center, B Rappaport School of Medicine, Technion, Haifa, Israel
Immunol Rev 178:138-47. 2000..It seems that the primary defect is somewhat different and, therefore, fucose administration was effective in the Turkish child, but did not show any beneficial results in the patients of Arabic origin...
- Defects in the leukocyte adhesion cascadeAmos Etzioni
Meyer Children Hospital, Rappaport School of Medicine, Technion, Haifa, Israel
Clin Rev Allergy Immunol 38:54-60. 2010..The various genetic defects leading to all adhesion molecules syndrome will be discussed...
- Immune deficiency and autoimmunityAmos Etzioni
Meyer Children s Hospital, Haifa and the B Rappaport Faculty of Medicine, Technion, Haifa, 36019, Israel
Autoimmun Rev 2:364-9. 2003..Treatment with intravenous gammagluobuilin may ameliorate the autoimmune disorder and bone marrow transplantation can cure both conditions...
- A novel genetic leukocyte adhesion deficiency in subsecond triggering of integrin avidity by endothelial chemokines results in impaired leukocyte arrest on vascular endothelium under shear flowRonen Alon
Department of Immunology, The Weizmann Institute of Science Rehovot, Israel
Blood 101:4437-45. 2003..This syndrome is the first example of a human integrin-activation deficiency associated with defective GPCR stimulation of integrin avidity at subsecond contacts, a key step in leukocyte arrest on vascular endothelium under shear flow...
- The influence of oral insulin on the development of autoimmune diabetes in NOD mice fed a hypoallergenic dietN Shehadeh
Pediatric Diabetes Unit, Rambam Medical Center, Haifa, Israel
Diabetes Nutr Metab 17:1-5. 2004..However, it has been reported that autoimmune diabetes can be induced by oral administration of an auto-antigen (insulin), and great caution is therefore warranted when applying the oral tolerance approach to prevent Type 1 diabetes...
- Importance of insulin content in infant diet: suggestion for a new infant formulaN Shehadeh
Department of Pediatrics, Rambam Medical Center, Haifa, Israel
Acta Paediatr 90:93-5. 2001..32 +/- 5.98 microU/ml mean +/- SD) and that insulin is hardly detectable in infant formulas. We propose the addition of human insulin to infant formula to match its composition more closely to human milk...
- Influence of oral insulin supplementation on carbohydrate, lipid and protein metabolism in weaned Balb/c miceNaim Shehadeh
Juvenile Diabetes Unit, Rambam Medical Center and the B Rapapport Faculty of Medicine, Technion lsrael Institute of Technology, Haifa, Israel
J Pediatr Endocrinol Metab 16:431-7. 2003..corrected] Insulin is substantially present in human milk. Suckling animal models have demonstrated local trophic effects of insulin on the gut mucosa, but the effects of oral insulin in the post-weaning period are controversial...
- Safe and efficacious allogeneic bone marrow transplantation for nonmalignant disorders using partial T cell depletion and no posttransplantation graft-versus-host-disease prophylaxisRonit Elhasid
Department of Pediatric Hemato Oncology, Meyer Children Hospital, Haifa, Israel
Biol Blood Marrow Transplant 13:329-38. 2007....
- Familial severe congenital neutropenia associated with infantile osteoporosis: a new entityR Elhasid
Division of Pediatric Hemato Oncology, Meyer Children s Hospital, Haifa, Israel
Am J Hematol 72:34-7. 2003..A possible role for a new recognized cytokine system involved in bone remodeling, the osteoprotegerin/receptor activator of nuclear factor-kappa B ligand, is suggested...
- Adhesion molecule deficiencies and their clinical significanceA Etzioni
Department of Pediatrics, Rambam Medical Center, Bruce Rappaport Faculty of Medicine, Technion Israel Institute of Technology, Haifa
Cell Adhes Commun 2:257-60. 1994..Studies of these two rare conditions emphasized the important in vivo roles of adhesion molecules in host defense mechanism...
- Repeated BCG vaccination is more effective than a single dose in preventing diabetes in non-obese diabetic (NOD) miceN Shehadeh
Juvenile Diabetes Unit, Rambam Medical Center, Haifa, Israel
Isr J Med Sci 33:711-5. 1997..Our report demonstrates that repeated BCG vaccination is safe and more effective than a single dose in preventing type I diabetes in NOD mice. This data should be considered in planning new human trials with BCG...
- Compound heterozygosity for abetalipoproteinaemia and familial hypobetalipoproteinaemiaS Keidar
Lipid Research Centre, Rambam Medical Centre, Haifa, Israel
J Med Genet 27:133-4. 1990..This is the first report of abetalipoproteinaemia resulting from compound heterozygosity for abetalipoproteinaemia and familial hypobetalipoproteinaemia...
- Chronic granulomatous disease in Israel: clinical, functional and molecular studies of 38 patientsBaruch Wolach
Department of Pediatrics, Meir Medical Center, Kfar Saba, Israel
Clin Immunol 129:103-14. 2008..Given that bone-marrow transplantation was successful in five of seven patients, it is recommended to perform it as early as possible before tissue damage is irreversible...
- A LAD-III syndrome is associated with defective expression of the Rap-1 activator CalDAG-GEFI in lymphocytes, neutrophils, and plateletsRonit Pasvolsky
Department of Immunology, The Weizmann Institute of Science, Rehovot 76100, Israel
J Exp Med 204:1571-82. 2007..Chemokine-triggered VLA-4 adhesiveness in T lymphocytes was partially defective as well. These studies identify CalDAG-GEFI as a critical regulator of inside-out integrin activation in human T lymphocytes, neutrophils, and platelets...
- LAD-III, a leukocyte adhesion deficiency syndrome associated with defective Rap1 activation and impaired stabilization of integrin bondsTatsuo Kinashi
Department of Immunology, The Weizmann Institute of Science, Rehovot, 76100, Israel
Blood 103:1033-6. 2004..This is a first report of an inherited Rap1 activation defect associated with a pathologic disorder in leukocyte integrin function, we herein term it "LAD-III."..
- LAD-III, a novel group of leukocyte integrin activation deficienciesRonen Alon
Department of Immunology, The Weizmann Institute of Science, 76100 Rehovot, Israel
Trends Immunol 24:561-6. 2003..Here, the mechanisms by which GPCRs might regulate leukocyte and platelet integrins are outlined with respect to this new family of LAD cases. We propose to term this the LAD-III family...
- Intravenous immunoglobulin in immunodeficiency states: state of the artElias Toubi
Department of Immunology, Rappaport Medical School, Technion, Haifa, Israel
Clin Rev Allergy Immunol 29:167-72. 2005..The route of immunoglobulin G replacement (intravenously vs subcutaneously) was reported to be of similar benefit. However, guidelines for usage and choice of route should be established and might be of help...
- The role of Toll-like receptor signaling in human immunodeficienciesHanna Suhir
Meyer s Children Hospital, the Rappaport School of Medicine, Technion, Haifa, Israel
Clin Rev Allergy Immunol 38:11-9. 2010..Furthermore, we highlight the published data associating TLR polymorphism with an altered susceptibility to infectious diseases...
- Autoimmunity in severe combined immunodeficiency (SCID)Ronit Elhasid
Blood 100:2677-8; author reply 2678-9. 2002
- The incidence of primary immunodeficiency syndromes in IsraelHana Golan
Sheba Medical Center, Tel Hashomer, Israel
Isr Med Assoc J 4:868-71. 2002
- LAD III versus LAD I variantAmos Etzioni
Blood 110:4129; author reply 4129-30. 2007
- Kindlin-3: a new gene involved in the pathogenesis of LAD-IIIAdi Mory
Blood 112:2591. 2008
- Differential terminal fucosylation of N-linked glycans versus protein O-fucosylation in leukocyte adhesion deficiency type II (CDG IIc)Laura Sturla
Giannina Gaslini Institute, 16147 Genova, Italy
J Biol Chem 278:26727-33. 2003....
- Autoimmunity in severe combined immunodeficiency (SCID): lessons from patients and experimental modelsJoshua D Milner
Laboratory of Immunology, National Institute of Allergy and Infectious Diseases, NIAID, NIH, Bethesda, MD, USA
J Clin Immunol 28:S29-33. 2008..It is thus of no surprise when both central and peripheral tolerance are impaired that autoimmunity can be observed in SCID...
- Interleukin-7 receptor alpha (IL-7Ralpha) deficiency: cellular and molecular bases. Analysis of clinical, immunological, and molecular features in 16 novel patientsSilvia Giliani
Angelo Nocivelli Institute of Molecular Medicine, Department of Pediatrics, University of Brescia, Italy
Immunol Rev 203:110-26. 2005..We also report on the clinical and immunological features of 16 novel patients with IL-7Ralpha deficiency and discuss the results of hematopoietic stem cell transplantation...
- Immune deficiencies: introductionAmos Etzioni
Isr Med Assoc J 4:50. 2002
- Mutation analysis and clinical implications of von Willebrand factor-cleaving protease deficiencyKarin Assink
Department of Pediatric Nephrology, University Medical Centre Nijmegen, Nijmegen, The Netherlands
Kidney Int 63:1995-9. 2003..Deficiency of a recently identified novel metalloprotease, the von Willebrand factor (vWF)-cleaving protease, originating from mutations in the ADAMTS13 gene plays a major role in the development of TTP...