Lista de obras -

"The Girl who Grew Horns": Temporal Swelling as an Atypical Presenting Symptom of Epstein-Barr Virus Infection

artículo científico publicado en 2016

A Congenital Neutrophil Defect Syndrome Associated with Mutations inVPS45 ⬇️

artículo científico publicado el 5 de junio de 2013

A Large Cohort of RAG1/2-Deficient SCID Patients-Clinical, Immunological, and Prognostic Analysis

scientific article published on 14 December 2019

A Novel Mutation in a Critical Region for the Methyl Donor Binding in DNMT3B Causes Immunodeficiency, Centromeric Instability, and Facial Anomalies Syndrome (ICF).

artículo científico publicado en 2016

A call to include severe combined immunodeficiency in newborn screening program

artículo científico publicado en 2014

Abstracts from the 10th C1-inhibitor deficiency workshop.

artículo científico publicado en 2017

Acute encephalopathy preceding Shigella infection

artículo científico publicado en 2001

Alterations in T and B Cell Receptor Repertoires Patterns in Patients With IL10 Signaling Defects and History of Infantile-Onset IBD

artículo científico publicado en 2020

Altered T cell receptor beta repertoire patterns in pediatric ulcerative colitis

artículo científico publicado en 2019

An RTEL1 Mutation Links to Infantile-Onset Ulcerative Colitis and Severe Immunodeficiency

artículo científico publicado en 2020

Analysis of Chronic Granulomatous Disease in the Kavkazi Population in Israel Reveals Phenotypic Heterogeneity in Patients with the Same NCF1 mutation (c.579G>A).

artículo científico publicado en 2018

Atypical immune phenotype in severe combined immunodeficiency patients with novel mutations in IL2RG and JAK3

artículo científico publicado en 2020

Author Correction: Human FCHO1 deficiency reveals role for clathrin-mediated endocytosis in development and function of T cells

scientific article published on 20 April 2020

Bacille Calmette-Guerin (BCG) complications in children with severe combined immunodeficiency (SCID)

artículo científico publicado en 2019

CD137 deficiency causes immune dysregulation with predisposition to lymphomagenesis

scientific article published on 01 October 2019

Can T-cell and B-cell excision circles predict development of inhibitors in pediatric hemophilia A?

artículo científico publicado en 2022

Celiac disease: extraintestinal manifestations, associated diseases, and complications

artículo científico publicado en 2002

Cellular and humoral aberrations in a kindred with IL-1 receptor–associated kinase 4 deficiency

scientific article published on 04 June 2007

Changes in Routine Pediatric Practice in Light of COVID-19

artículo científico publicado en 2020

Characterization of T and B cell repertoire diversity in patients with RAG deficiency

artículo científico

Characterization of ζ-associated protein, 70 kd (ZAP70)–deficient human lymphocytes ⬇️

artículo científico publicado el 1 de diciembre de 2010

Characterizing T cells in SCID patients presenting with reactive or residual T lymphocytes.

artículo científico publicado en 2012

Chronic granulomatous disease: Clinical, functional, molecular, and genetic studies. The Israeli experience with 84 patients

artículo científico publicado en 2016

Clinical characteristics of children with 2009 pandemic H1N1 influenza virus infections

artículo científico publicado en 2011

Co-appearance of OPV and BCG vaccine-derived complications in two infants with severe combined immunodeficiency

artículo científico publicado en 2018

Co-existence of clonal expanded autologous and transplacental-acquired maternal T cells in recombination activating gene-deficient severe combined immunodeficiency

artículo científico publicado en 2014

Combined Gastric and Pancreatic Tissue Inside a Meckel's Diverticulum

artículo científico publicado en 2018

Combined immunodeficiency in a patient with mosaic monosomy 21.

artículo científico publicado en 2016

Congenital neutropenia with variable clinical presentation in novel mutation of the SRP54 gene

scientific article published on 11 April 2020

Correction to: Novel Mutations in RASGRP1 Are Associated with Immunodeficiency, Immune Dysregulation, and EBV-Induced Lymphoma

artículo científico publicado en 2018

Correlation between 'ACKR1/DARC null' polymorphism and benign neutropenia in Yemenite Jews

artículo científico publicado en 2015

Corrigendum: Natural Killer Cells from Patients with Recombinase-Activating Gene and Non-Homologous End Joining Gene Defects Comprise a Higher Frequency of CD56bright NKG2A+++ Cells, and Yet Display Increased Degranulation and Higher Perforin Conten

artículo científico publicado en 2017

Cysteine and hydrophobic residues in CDR3 serve as distinct T-cell self-reactivity indices

scientific article published on 30 April 2019

Cytomegalovirus retinitis in HIV-negative patients: a practical management approach

artículo científico publicado en 2014

Deficiency of caspase recruitment domain family, member 11 (CARD11), causes profound combined immunodeficiency in human subjects

artículo científico publicado en 2013

Defining combined immunodeficiency ⬇️

artículo científico publicado el 2 de junio de 2012

Disruption of Thrombocyte and T Lymphocyte Development by a Mutation in ARPC1B.

artículo científico publicado en 2017

Disturbed B and T cell homeostasis and neogenesis in patients with ataxia telangiectasia.

artículo científico publicado en 2014

Elevated IgM levels as a marker for a unique phenotype in patients with Ataxia telangiectasia.

artículo científico publicado en 2018

Enhanced Collagen Deposition in the Duodenum of Patients with Hyaline Fibromatosis Syndrome and Protein Losing Enteropathy

artículo científico publicado en 2020

Enhanced expression of the nuclear envelope LAP2 transcriptional repressors in normal and malignant activated lymphocytes

artículo científico publicado en 2007

Epidemiologic, socioeconomic, and clinical factors associated with severity of respiratory syncytial virus infection in previously healthy infants

artículo científico publicado en 2006

Eruption of urticaria and angioedema induced by binging and purging in an anorexia nervosa patient

artículo científico publicado en 2016

Evaluation and management of pediatric patients with anaphylactoid reactions to deferoxamine mesylate

artículo científico publicado en 2007

Evaluation of immediate allergic reactions to cephalosporins in non-penicillin-allergic patients

artículo científico publicado en 2009

Exogenous interleukin-2 can rescue in-vitro T cell activation and proliferation in patients with a novel CARMIL2 mutation

artículo científico publicado en 2020

Fatal lung fibrosis associated with immunodeficiency and gonadal dysgenesis in 46XX sisters—A new syndrome

scientific article published on 01 January 2008

Fetuin-A deficiency is associated with infantile cortical hyperostosis (Caffey disease)

scientific article published on 09 July 2019

First Year of Israeli Newborn Screening for Severe Combined Immunodeficiency-Clinical Achievements and Insights

artículo científico publicado en 2017

First generation cephalosporins as therapy for uncomplicated pyelonephritis in children. A retrospective analysis.

artículo científico publicado en 2000

First report of a persistent oropharyngeal infection of type 2 vaccine-derived poliovirus (iVDPV2) in a primary immune deficient (PID) patient after eradication of wild type 2 poliovirus

scientific article published on 03 April 2019

Foscarnet-related Hypercalcemia During CMV Treatment in an Infant With SCID: A Case Report and Review of Literature

artículo científico publicado en 2016

G23D: Online tool for mapping and visualization of genomic variants on 3D protein structures

artículo científico publicado en 2016

Gastrointestinal Hemorrhage: A Manifestation of the Telomere Biology Disorders

scientific article published on 21 September 2020

Genetic and Structural Analysis of a SKIV2L Mutation Causing Tricho-hepato-enteric Syndrome

artículo científico publicado en 2018

Genetic predisposition to infectious pathogens: a review of less familiar variants

artículo científico publicado en 2003

Growth characteristics and endocrine abnormalities in 22q11.2 deletion syndrome

artículo científico publicado en 2017

HOW TO APPROACH A PATIENT WITH SUSPECTED IMMUNODEFICIENCY

artículo científico publicado en 2016

Helper T cell immunity in humans with inherited CD4 deficiency

artículo científico publicado en 2024

Hematologically important mutations: leukocyte adhesion deficiency (first update).

artículo científico publicado en 2011

Herpes simplex encephalitis in a patient with a distinctive form of inherited IFNAR1 deficiency

scientific article published on 22 September 2020

High-dose methylprednisolone is effective in the management of acute graft-versus-host disease in severe combined immune deficiency

artículo científico publicado en 2008

Highlighting the problematic reliance on CD18 for diagnosing leukocyte adhesion deficiency type 1.

artículo científico

Histone deacetylase inhibitors--a new tool to treat cancer

artículo científico publicado en 2004

Hospital versus home treatment of respiratory exacerbations in cystic fibrosis

artículo científico publicado en 2011

Human FCHO1 deficiency reveals role for clathrin-mediated endocytosis in development and function of T cells

artículo científico publicado en 2020

Hypoparathyroidism and central diabetes insipidus: in search of the link.

artículo científico publicado en 2014

Immune and TRG repertoire signature of the thymus in Down syndrome patients

scientific article published on 31 March 2020

Immune reconstitution after HSCT in SCID-a cohort of conditioned and unconditioned patients

scientific article published on 01 June 2019

Immunological effects of nilotinib prophylaxis after allogeneic stem cell transplantation in patients with advanced chronic myeloid leukemia or philadelphia chromosome-positive acute lymphoblastic leukemia

artículo científico publicado en 2016

Impact of Conditioning on Outcome of Hematopoietic Stem Cell Transplantation for Wiskott-Aldrich Syndrome ⬇️

artículo científico publicado el 1 de agosto de 2013

Inherited SLP76 deficiency in humans causes severe combined immunodeficiency, neutrophil and platelet defects

artículo científico publicado en 2021

Insight into normal thymic activity by assessment of peripheral blood samples.

artículo científico publicado en 2015

Interleukin-10 receptor signaling in innate immune cells regulates mucosal immune tolerance and anti-inflammatory macrophage function

artículo científico publicado en 2014

Intestinal Inflammation and Dysregulated Immunity in Patients With Inherited Caspase-8 Deficiency

scientific article published on 26 September 2018

Kikuchi Fujimoto disease: a rare presentation in a child and an updated review of the literature

scientific article published on 01 January 2002

LAP2zeta binds BAF and suppresses LAP2beta-mediated transcriptional repression.

artículo científico publicado en 2008

Late diagnosis of Chronic Granulomatous Disease

artículo científico publicado en 2020

Leptin and C-reactive protein levels correlate during minor infection in children

artículo científico publicado en 2007

Leukocyte Adhesion Deficiency -A Multicenter National Experience

artículo científico publicado en 2019

Liver Disease in Pediatric Patients With Ataxia Telangiectasia: A Novel Report

artículo científico publicado en 2015

Long-term nutritional and gastrointestinal aspects in patients with ataxia telangiectasia

artículo científico publicado en 2017

MHC II deficient infant identified by newborn screening program for SCID

artículo científico publicado en 2018

Matrix metalloproteinases 2 and 9 are markers of inflammation but not of the degree of fibrosis in chronic hepatitis C

artículo científico publicado en 2005

Maturation of the immune system in the fetus and the implications for congenital CMV

scientific article published on 16 March 2019

Microarray-based gene expression profiling of hematologic malignancies: basic concepts and clinical applications

artículo científico publicado en 2004

Molecular assessment of thymic capacities in patients with Schimke immuno-osseous dysplasia

artículo científico publicado en 2009

Molecular assessment of thymus capabilities in the evaluation of T-cell immunodeficiency.

artículo científico publicado en 2010

Monogenic Inflammatory Bowel Disease: It's Never Too Late to Make a Diagnosis

scientific article published on 04 September 2020

Mutation analysis should be performed to rule out gammac deficiency in children with functional severe combined immune deficiency despite apparently normal immunologic tests

artículo científico publicado en 2005

Mutations in STN1 cause Coats plus syndrome and are associated with genomic and telomere defects.

scientific article published on 18 July 2016

Natural Killer Cells from Patients with Recombinase-Activating Gene and Non-Homologous End Joining Gene Defects Comprise a Higher Frequency of CD56bright NKG2A+++ Cells, and Yet Display Increased Degranulation and Higher Perforin Content

artículo científico publicado en 2017

Neurologic Presentation in Children with Ataxia-Telangiectasia: Is Small Head Circumference a Hallmark of the Disease? ⬇️

artículo científico publicado el 22 de marzo de 2011

Neutrophil Functions in Immunodeficiency Due to DOCK8 Deficiency

artículo científico publicado en 2019

Newborn screening for severe T and B cell immunodeficiency in Israel: a pilot study

artículo científico publicado en 2013

Novel MALT1 Mutation Linked to Immunodeficiency, Immune Dysregulation, and an Abnormal T Cell Receptor Repertoire

scientific article published on 29 April 2019

Novel Mutations in RASGRP1 are Associated with Immunodeficiency, Immune Dysregulation, and EBV-Induced Lymphoma

artículo científico publicado en 2018

Novel SMARCAL1 bi-allelic mutations associated with a chromosomal breakage phenotype in a severe SIOD patient

artículo científico publicado en 2013

Novel mutations in RAG1/2 and ADA genes in Israeli patients presenting with T-B- SCID or Omenn syndrome ⬇️

artículo científico publicado el 7 de mayo de 2011

Nuclear envelopathies--raising the nuclear veil

artículo científico publicado en 2005

Patients with Primary Immunodeficiencies Are a Reservoir of Poliovirus and a Risk to Polio Eradication

artículo científico publicado en 2017

Phase 1/2 study of nilotinib prophylaxis after allogeneic stem cell transplantation in patients with advanced chronic myeloid leukemia or Philadelphia chromosome-positive acute lymphoblastic leukemia.

artículo científico publicado en 2014

Polyethylene glycol-modified adenosine deaminase improved lung disease but not liver disease in partial adenosine deaminase deficiency

artículo científico publicado en 2009

Post-childhood Presentation and Diagnosis of DiGeorge Syndrome

artículo científico publicado en 2015

Procalcitonin correlates with C-reactive protein as an acute-phase reactant in pediatric patients

artículo científico publicado en 2000

Proteome Analysis of Human Neutrophil Granulocytes From Patients With Monogenic Disease Using Data-independent Acquisition

artículo científico publicado en 2019

Pseudotumor cerebri after allogeneic bone marrow transplant associated with cyclosporine a use for graft-versus-host disease prophylaxis

artículo científico publicado en 2007

Purine nucleoside phosphorylase deficiency presenting as severe combined immune deficiency ⬇️

artículo científico publicado el 1 de mayo de 2013

Quantification of specific T and B cells immunological markers in children with chronic and transient ITP.

artículo científico publicado en 2017

Reduced Function and Diversity of T Cell Repertoire and Distinct Clinical Course in Patients With IL7RA Mutation

artículo científico publicado en 2019

Reduced central tolerance in Omenn syndrome leads to immature self-reactive oligoclonal T cells

artículo científico publicado en 2009

Reply

artículo científico publicado en 2019

Reversible airway obstruction in children with ataxia telangiectasia

scientific article published on 01 March 2010

Selective clinical and immune response of the oligoclonal autoreactive T cells in Omenn patients after cyclosporin A treatment ⬇️

artículo científico publicado el 1 de febrero de 2012

Severe Prolonged Hypothyroidism: Clinical, Anatomical, Physiological, and Metabolic Features

artículo científico publicado en 2015

Severe congenital neutropenia with neurological impairment due to a homozygous VPS45 p.E238K mutation: A case report suggesting a genotype-phenotype correlation

artículo científico publicado en 2015

Severe eosinophilia in children: a diagnostic dilemma.

artículo científico publicado en 2013

Sometimes double negative is positive ⬇️

artículo científico publicado el 1 de enero de 2013

Specific self-antigen-driven immune response in pericardial effusion as an isolated GVHD manifestation

artículo científico publicado en 2009

Survival of the fetus: fetal B and T cell receptor repertoire development

artículo científico publicado en 2017

T and B cell clonal expansion in Ras-associated lymphoproliferative disease (RALD) as revealed by next-generation sequencing.

artículo científico publicado en 2017

T+ NK+ IL-2 Receptor γ Chain Mutation: a Challenging Diagnosis of Atypical Severe Combined Immunodeficiency

artículo científico publicado en 2018

T- and B-cell defects in a novel purine nucleoside phosphorylase mutation

scientific article published on 10 May 2012

T-cell compartment in synovial fluid of pediatric patients with JIA correlates with disease phenotype

artículo científico publicado en 2011

T-cell defects in patients with germline mutations account for combined immunodeficiency

artículo científico publicado en 2018

T-cell receptor excision circles in primary immunodeficiencies and other T-cell immune disorders

artículo científico

Testicular failure in a patient with G6PC3 deficiency

artículo científico publicado en 2014

The Clinician Scientist, a Distinct and Disappearing Entity

artículo científico publicado en 2019

The Kinetics of Early T and B Cell Immune Recovery after Bone Marrow Transplantation in RAG-2-Deficient SCID Patients ⬇️

artículo científico publicado el 25 de enero de 2012

The clinical and laboratory spectrum of dedicator of cytokinesis 8 immunodeficiency syndrome in patients with a unique mutation

artículo científico publicado en 2017

The effect of gentamicin-induced readthrough on a novel premature termination codon of CD18 leukocyte adhesion deficiency patients

artículo científico publicado en 2010

The effects of DOCK8 deficiency on human neutrophil functions

scholarly article by Amarilla B. Mandola et al published February 2018 in The Journal of Allergy and Clinical Immunology

The nuclear-envelope protein and transcriptional repressor LAP2beta interacts with HDAC3 at the nuclear periphery, and induces histone H4 deacetylation

artículo científico publicado en 2005

The role of hematopoietic stem cell transplantation in SP110 associated veno‐occlusive disease with immunodeficiency syndrome ⬇️

artículo científico publicado el 1 de marzo de 2013

Thymic and bone marrow output in individuals with 22q11.2 deletion syndrome

artículo científico publicado en 2015

Thymic function in MHC class II–deficient patients ⬇️

artículo científico publicado el 8 de diciembre de 2012

Thymic functions and gene expression profile distinct double-negative cells from single positive cells in the autoimmune lymphoproliferative syndrome ⬇️

artículo científico publicado el 18 de enero de 2012

Thymic involution, a co-morbidity factor in amyotrophic lateral sclerosis

artículo científico publicado en 2010

Thymus Activity, Vitamin D, and Respiratory Infections in Adolescent Swimmers

artículo científico publicado en 2015

Timely and spatially regulated maturation of B and T cell repertoire during human fetal development

artículo científico publicado en 2015

Uncommon presentation of some common pediatric diseases.

artículo científico publicado en 2003

Underperformed and Underreported Testing for Persistent Oropharyngeal Poliovirus Infections in Primary Immune Deficient Patients-Risk for Reemergence of Polioviruses

artículo científico publicado en 2020

Unusual phenotype in patients with a hypomorphic mutation in the DCLRE1C gene: IgG hypergammaglobulinemia with IgA and IgE deficiency

artículo científico publicado en 2020

Vitamin D deficiency and insufficiency in Orthodox and non-Orthodox Jewish mothers in Israel.

artículo científico publicado en 2001

Whole exome sequencing (WES) approach for diagnosing primary immunodeficiencies (PIDs) in a highly consanguineous community

scientific article published on 03 March 2020

Whole exome sequencing in childhood-onset lupus frequently detects single gene etiologies

artículo científico publicado en 2019

[CURRENT KNOWLEDGE ON COVID-19 IN CHILDREN - CAUTIOUS OPTIMISM]

artículo científico

[New aspects of celiac disease]

artículo científico publicado en 2002

Lista de obras de

"The Girl who Grew Horns": Temporal Swelling as an Atypical Presenting Symptom of Epstein-Barr Virus Infection

A Congenital Neutrophil Defect Syndrome Associated with Mutations inVPS45 ⬇️

A Large Cohort of RAG1/2-Deficient SCID Patients-Clinical, Immunological, and Prognostic Analysis

A Novel Mutation in a Critical Region for the Methyl Donor Binding in DNMT3B Causes Immunodeficiency, Centromeric Instability, and Facial Anomalies Syndrome (ICF).

A call to include severe combined immunodeficiency in newborn screening program

Abstracts from the 10th C1-inhibitor deficiency workshop.

Acute encephalopathy preceding Shigella infection

Alterations in T and B Cell Receptor Repertoires Patterns in Patients With IL10 Signaling Defects and History of Infantile-Onset IBD

Altered T cell receptor beta repertoire patterns in pediatric ulcerative colitis

An RTEL1 Mutation Links to Infantile-Onset Ulcerative Colitis and Severe Immunodeficiency

Analysis of Chronic Granulomatous Disease in the Kavkazi Population in Israel Reveals Phenotypic Heterogeneity in Patients with the Same NCF1 mutation (c.579G>A).

Atypical immune phenotype in severe combined immunodeficiency patients with novel mutations in IL2RG and JAK3

Author Correction: Human FCHO1 deficiency reveals role for clathrin-mediated endocytosis in development and function of T cells

Bacille Calmette-Guerin (BCG) complications in children with severe combined immunodeficiency (SCID)

CD137 deficiency causes immune dysregulation with predisposition to lymphomagenesis

Can T-cell and B-cell excision circles predict development of inhibitors in pediatric hemophilia A?

Celiac disease: extraintestinal manifestations, associated diseases, and complications

Cellular and humoral aberrations in a kindred with IL-1 receptor–associated kinase 4 deficiency

Changes in Routine Pediatric Practice in Light of COVID-19

Characterization of T and B cell repertoire diversity in patients with RAG deficiency

Characterization of ζ-associated protein, 70 kd (ZAP70)–deficient human lymphocytes ⬇️

Characterizing T cells in SCID patients presenting with reactive or residual T lymphocytes.

Chronic granulomatous disease: Clinical, functional, molecular, and genetic studies. The Israeli experience with 84 patients

Clinical characteristics of children with 2009 pandemic H1N1 influenza virus infections

Co-appearance of OPV and BCG vaccine-derived complications in two infants with severe combined immunodeficiency

Co-existence of clonal expanded autologous and transplacental-acquired maternal T cells in recombination activating gene-deficient severe combined immunodeficiency

Combined Gastric and Pancreatic Tissue Inside a Meckel's Diverticulum

Combined immunodeficiency in a patient with mosaic monosomy 21.

Congenital neutropenia with variable clinical presentation in novel mutation of the SRP54 gene

Correction to: Novel Mutations in RASGRP1 Are Associated with Immunodeficiency, Immune Dysregulation, and EBV-Induced Lymphoma

Correlation between 'ACKR1/DARC null' polymorphism and benign neutropenia in Yemenite Jews

Corrigendum: Natural Killer Cells from Patients with Recombinase-Activating Gene and Non-Homologous End Joining Gene Defects Comprise a Higher Frequency of CD56bright NKG2A+++ Cells, and Yet Display Increased Degranulation and Higher Perforin Conten

Cysteine and hydrophobic residues in CDR3 serve as distinct T-cell self-reactivity indices

Cytomegalovirus retinitis in HIV-negative patients: a practical management approach

Deficiency of caspase recruitment domain family, member 11 (CARD11), causes profound combined immunodeficiency in human subjects

Defining combined immunodeficiency ⬇️

Disruption of Thrombocyte and T Lymphocyte Development by a Mutation in ARPC1B.

Disturbed B and T cell homeostasis and neogenesis in patients with ataxia telangiectasia.

Elevated IgM levels as a marker for a unique phenotype in patients with Ataxia telangiectasia.

Enhanced Collagen Deposition in the Duodenum of Patients with Hyaline Fibromatosis Syndrome and Protein Losing Enteropathy

Enhanced expression of the nuclear envelope LAP2 transcriptional repressors in normal and malignant activated lymphocytes

Epidemiologic, socioeconomic, and clinical factors associated with severity of respiratory syncytial virus infection in previously healthy infants

Eruption of urticaria and angioedema induced by binging and purging in an anorexia nervosa patient

Evaluation and management of pediatric patients with anaphylactoid reactions to deferoxamine mesylate

Evaluation of immediate allergic reactions to cephalosporins in non-penicillin-allergic patients

Exogenous interleukin-2 can rescue in-vitro T cell activation and proliferation in patients with a novel CARMIL2 mutation

Fatal lung fibrosis associated with immunodeficiency and gonadal dysgenesis in 46XX sisters—A new syndrome

Fetuin-A deficiency is associated with infantile cortical hyperostosis (Caffey disease)

First Year of Israeli Newborn Screening for Severe Combined Immunodeficiency-Clinical Achievements and Insights

First generation cephalosporins as therapy for uncomplicated pyelonephritis in children. A retrospective analysis.

First report of a persistent oropharyngeal infection of type 2 vaccine-derived poliovirus (iVDPV2) in a primary immune deficient (PID) patient after eradication of wild type 2 poliovirus

Foscarnet-related Hypercalcemia During CMV Treatment in an Infant With SCID: A Case Report and Review of Literature

G23D: Online tool for mapping and visualization of genomic variants on 3D protein structures

Gastrointestinal Hemorrhage: A Manifestation of the Telomere Biology Disorders

Genetic and Structural Analysis of a SKIV2L Mutation Causing Tricho-hepato-enteric Syndrome

Genetic predisposition to infectious pathogens: a review of less familiar variants

Growth characteristics and endocrine abnormalities in 22q11.2 deletion syndrome

HOW TO APPROACH A PATIENT WITH SUSPECTED IMMUNODEFICIENCY

Helper T cell immunity in humans with inherited CD4 deficiency

Hematologically important mutations: leukocyte adhesion deficiency (first update).

Herpes simplex encephalitis in a patient with a distinctive form of inherited IFNAR1 deficiency

High-dose methylprednisolone is effective in the management of acute graft-versus-host disease in severe combined immune deficiency

Highlighting the problematic reliance on CD18 for diagnosing leukocyte adhesion deficiency type 1.

Histone deacetylase inhibitors--a new tool to treat cancer

Hospital versus home treatment of respiratory exacerbations in cystic fibrosis

Human FCHO1 deficiency reveals role for clathrin-mediated endocytosis in development and function of T cells

Hypoparathyroidism and central diabetes insipidus: in search of the link.

Immune and TRG repertoire signature of the thymus in Down syndrome patients

Immune reconstitution after HSCT in SCID-a cohort of conditioned and unconditioned patients

Immunological effects of nilotinib prophylaxis after allogeneic stem cell transplantation in patients with advanced chronic myeloid leukemia or philadelphia chromosome-positive acute lymphoblastic leukemia

Impact of Conditioning on Outcome of Hematopoietic Stem Cell Transplantation for Wiskott-Aldrich Syndrome ⬇️

Inherited SLP76 deficiency in humans causes severe combined immunodeficiency, neutrophil and platelet defects

Insight into normal thymic activity by assessment of peripheral blood samples.

Interleukin-10 receptor signaling in innate immune cells regulates mucosal immune tolerance and anti-inflammatory macrophage function

Intestinal Inflammation and Dysregulated Immunity in Patients With Inherited Caspase-8 Deficiency

Kikuchi Fujimoto disease: a rare presentation in a child and an updated review of the literature

LAP2zeta binds BAF and suppresses LAP2beta-mediated transcriptional repression.

Late diagnosis of Chronic Granulomatous Disease

Leptin and C-reactive protein levels correlate during minor infection in children