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Efficacy of the Janus kinase 1/2 inhibitor ruxolitinib in the treatment of vasculopathy associated with TMEM173 -activating mutations in 3 children

Journal of allergy and clinical immunology, 2016-12, Vol.138 (6), p.1752-1755

2016

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The BLNK adaptor protein has a nonredundant role in human B-cell differentiation

Journal of allergy and clinical immunology, 2014-07, Vol.134 (1), p.145-154.e3

2014

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CD45RA depletion in HLA-mismatched allogeneic hematopoietic stem cell transplantation for primary combined immunodeficiency: A preliminary study

Journal of allergy and clinical immunology, 2015-05, Vol.135 (5), p.1303-1309.e3

2015

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Refractory wound healing and cytopenias treated with a sodium-glucose cotransporter-2 inhibitor in a patient with glucose-6-phosphatase catalytic subunit 3 deficiency

JAAD Case Reports, 2024-07, Vol.49, p.22-24

2024

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Very Early-Onset Inflammatory Manifestations of X-Linked Chronic Granulomatous Disease

Frontiers in immunology, 2017-09, Vol.8, p.1167-1167

2017

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Temporal and Spatial Compartmentalization of Drug-Resistant Cytomegalovirus (CMV) in a Child with CMV Meningoencephalitis: Implications for Sampling in Molecular Diagnosis

Journal of Clinical Microbiology, 2013-12, Vol.51 (12), p.4266-4269

2013

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Circulating endothelial cells as markers of endothelial dysfunction during hematopoietic stem cell transplantation for pediatric primary immunodeficiency

Journal of allergy and clinical immunology, 2014-11, Vol.134 (5), p.1203-1206

2014

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145 Assessing MEFV variant pathogenicity by ASC- Specks Flow Detection

Clinical immunology (Orlando, Fla.), 2024-05, Vol.262, p.110087, Article 110087

2024

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NOX2 deficiency enhances priming and activation of the NLRP3 inflammasome

Journal of allergy and clinical immunology, 2023-10

2023

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Monoclonal Antibodies for COVID-19 in X-linked Agammaglobulinemia: a Case Series

Journal of clinical immunology, 2023-08, Vol.43 (6), p.1067-1071

2023

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A novel variant in caspase recruitment domain family member 11 highlights the variability of clinical manifestations and management in a three generation family

The journal of allergy and clinical immunology in practice (Cambridge, MA), 2023-10, Vol.11 (10), p.3265-3268

2023

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Rituximab-induced hypogammaglobulinemia and infection risk in pediatric patients

Journal of allergy and clinical immunology, 2021-08, Vol.148 (2), p.523-532.e8

2021

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A novel variant in CARD11 highlights the variability of clinical manifestations and management in a three-generation family

The journal of allergy and clinical immunology in practice (Cambridge, MA), 2023-06

2023

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Faster T-cell development following gene therapy compared with haploidentical HSCT in the treatment of SCID-X1

Blood, 2015-06, Vol.125 (23), p.3563-3569

2015

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PLCG2 associated immune dysregulation (PLAID) comprises broad and distinct clinical presentations related to functional classes of genetic variants

Journal of allergy and clinical immunology, 2024-01, Vol.153 (1), p.230-242

2024

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Prevalence and Clinical Impact of Norovirus Fecal Shedding in Children with Inherited Immune Deficiencies

The Journal of infectious diseases, 2012-10, Vol.206 (8), p.1269-1274

2012

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Clinical and functional spectrum of RAC2-related immunodeficiency

Blood, 2024-04, Vol.143 (15), p.1476

2024

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Recurrent Respiratory Infections Revealing CD8α Deficiency

Journal of clinical immunology, 2015-11, Vol.35 (8), p.692-695

2015

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Chronic granulomatous disease presenting at age 52 with fulminant mulch pneumonitis

The journal of allergy and clinical immunology. Global, 2022-11, Vol.1 (4), p.322-324

2022

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Rotavirus vaccine virus shedding, viremia and clearance in infants with severe combined immune deficiency

The Pediatric infectious disease journal, 2015-03, Vol.34 (3), p.326-328

2015

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Recurrent Respiratory Infections Revealing CD8[alpha] Deficiency

Journal of clinical immunology, 2015-11, Vol.35 (8), p.692

2015

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Reiterated Therapeutic Drug Monitoring (TDM) Dosing to Significantly Improve the Control of Exposure to IV Busulfan in Infants and Older Children Undergoing Hematopoietic Stem-Cell Transplantation (HSCT)

Blood, 2015-12, Vol.126 (23), p.4326-4326

2015

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Circulating Endothelial Cells As a Reliable Marker Of Endothelial Damage In Children Undergoing Hematopoietic Stem Cell Transplantation

Blood, 2013-11, Vol.122 (21), p.2049-2049

2013

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T-Cell Depleted Haematopoietic Stem Cells (HSC) Transplantation with Add Back of CD45RA Negative DLI: About 2 Cases

Blood, 2012-11, Vol.120 (21), p.4350-4350

2012

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Efficacy of the Janus kinase 1/2 inhibitor ruxolitinib in the treatment of vasculopathy associated with TMEM173 -activating mutations in 3 children

The BLNK adaptor protein has a nonredundant role in human B-cell differentiation

CD45RA depletion in HLA-mismatched allogeneic hematopoietic stem cell transplantation for primary combined immunodeficiency: A preliminary study

Refractory wound healing and cytopenias treated with a sodium-glucose cotransporter-2 inhibitor in a patient with glucose-6-phosphatase catalytic subunit 3 deficiency

Very Early-Onset Inflammatory Manifestations of X-Linked Chronic Granulomatous Disease

Temporal and Spatial Compartmentalization of Drug-Resistant Cytomegalovirus (CMV) in a Child with CMV Meningoencephalitis: Implications for Sampling in Molecular Diagnosis

Circulating endothelial cells as markers of endothelial dysfunction during hematopoietic stem cell transplantation for pediatric primary immunodeficiency

145 Assessing MEFV variant pathogenicity by ASC- Specks Flow Detection

NOX2 deficiency enhances priming and activation of the NLRP3 inflammasome

Monoclonal Antibodies for COVID-19 in X-linked Agammaglobulinemia: a Case Series

A novel variant in caspase recruitment domain family member 11 highlights the variability of clinical manifestations and management in a three generation family

Rituximab-induced hypogammaglobulinemia and infection risk in pediatric patients

A novel variant in CARD11 highlights the variability of clinical manifestations and management in a three-generation family

Faster T-cell development following gene therapy compared with haploidentical HSCT in the treatment of SCID-X1

PLCG2 associated immune dysregulation (PLAID) comprises broad and distinct clinical presentations related to functional classes of genetic variants

Prevalence and Clinical Impact of Norovirus Fecal Shedding in Children with Inherited Immune Deficiencies

Clinical and functional spectrum of RAC2-related immunodeficiency

Recurrent Respiratory Infections Revealing CD8α Deficiency

Chronic granulomatous disease presenting at age 52 with fulminant mulch pneumonitis

Rotavirus vaccine virus shedding, viremia and clearance in infants with severe combined immune deficiency

Recurrent Respiratory Infections Revealing CD8[alpha] Deficiency

Reiterated Therapeutic Drug Monitoring (TDM) Dosing to Significantly Improve the Control of Exposure to IV Busulfan in Infants and Older Children Undergoing Hematopoietic Stem-Cell Transplantation (HSCT)

Circulating Endothelial Cells As a Reliable Marker Of Endothelial Damage In Children Undergoing Hematopoietic Stem Cell Transplantation

Anti CMV and/or Anti Adenovirus IFN-g-Positive CD4+ CD8+ T Lymphocytes for Treatment of Viral Infections After Allogeneic HSC Transplantation: First Results

T-Cell Depleted Haematopoietic Stem Cells (HSC) Transplantation with Add Back of CD45RA Negative DLI: About 2 Cases

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