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The diagnosis of severe combined immunodeficiency (SCID): The Primary Immune Deficiency Treatment Consortium (PIDTC) 2022 Definitions

Journal of allergy and clinical immunology, 2023-02, Vol.151 (2), p.539-546

2023

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Immune Thrombocytopenia in Children: Consensus and Controversies

Indian journal of pediatrics, 2020-02, Vol.87 (2), p.150-157

2020

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Mechanistic understanding of the combined immunodeficiency in complete human CARD11 deficiency

Journal of allergy and clinical immunology, 2021-12, Vol.148 (6), p.1559-1574.e13

2021

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Primary Immunodeficiencies and Hematologic Malignancies: A Diagnostic Approach

Frontiers in immunology, 2022-03, Vol.13, p.852937-852937

2022

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Survey of Infection Control Precautions for Patients with Severe Combined Immune Deficiency

Journal of clinical immunology, 2019-11, Vol.39 (8), p.753-761

2019

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Subcutaneous panniculitis-like T-cell lymphoma in two unrelated individuals with BENTA disease

Clinical immunology (Orlando, Fla.), 2023-10, Vol.255, p.109732-109732, Article 109732

2023

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Case Report: Biallelic Loss of Function ATM due to Pathogenic Synonymous and Novel Deep Intronic Variant c.1803-270T > G Identified by Genome Sequencing in a Child With Ataxia-Telangiectasia

Frontiers in genetics, 2022-01, Vol.13, p.815210

2022

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Considering immunologic and genetic evaluation for HLH in neuroinflammation: A case of Griscelli syndrome type 2 with neurological symptoms and a lack of albinism

Pediatric blood & cancer, 2020-08, Vol.67 (8), p.e28312-n/a

2020

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Hydroxyurea for lifelong transfusion-dependent β-thalassemia: A meta-analysis

Pediatric hematology and oncology, 2017-11, Vol.34 (8), p.435-448

2017

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Hydroxyurea for nontransfusion-dependent β-thalassemia: A systematic review and meta-analysis

Hematology/oncology and stem cell therapy, 2017-09, Vol.10 (3), p.116-125

2017

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Immune function in childhood cancer survivors: a Children's Oncology Group review

The lancet child & adolescent health, 2021-04, Vol.5 (4), p.284-294

2021

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Long-Term Immune Reconstitution in ADA-Deficient Patients Treated With Elapegademase: A Real-World Experience

The journal of allergy and clinical immunology in practice (Cambridge, MA), 2023-06, Vol.11 (6), p.1725-1733

2023

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One-pot DTECT enables rapid and efficient capture of genetic signatures for precision genome editing and clinical diagnostics

Cell reports methods, 2024-02, Vol.4 (2), p.100698-100698, Article 100698

2024

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Secondary Reporting of G6PD Deficiency on Newborn Screening

International journal of neonatal screening, 2023-03, Vol.9 (2), p.18

2023

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Combined Autoimmune Cytopenias Presenting in Childhood

Pediatric blood & cancer, 2016-02, Vol.63 (2), p.292-298

2016

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Case report: Blotchy skin in a puffy neonate: is there a new association?

Frontiers in pediatrics, 2023-09, Vol.11

2023

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One-pot DTECT enables rapid and efficient capture of genetic signatures for precision genome editing and clinical diagnostics

Cell reports methods, 2024-02, Vol.4 (2), p.100698, Article 100698

2024

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Postpartum HLA-Matched Bone Marrow Donation from Mother to Neonate for Reticular Dysgenesis

Journal of clinical immunology, 2017, Vol.37 (1), p.29-31

2017

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Immunologic Aspects of DiGeorge Syndrome

Neoreviews (Elk Grove Village, Ill.), 2005-10, Vol.6 (10), p.e471-e478

2005

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Hydroxyurea For Non-Transfusion Dependent β-Thalassemia: A Systematic Review and Meta-Analysis

Hematology/oncology and stem cell therapy, 2017

2017

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Granulomatous lymphocytic interstitial lung disease in infancy

Canadian respiratory journal, 2014-01, Vol.21 (1), p.20-22

2014

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Fludarabine, Campath, and Low-Dose Cyclophosphamide (FCClow) with or without TBI Conditioning Results in Excellent Transplant Outcomes in Children with Severe Aplastic Anemia

Biology of blood and marrow transplantation, 2020-10, Vol.26 (10), p.1900-1905

2020

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A new genetic subgroup of chronic granulomatous disease with autosomal recessive mutations in p40phox and selective defects in neutrophil NADPH oxidase activity

Blood, 2009-10, Vol.114 (15), p.3309-3315

2009

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The diagnosis of severe combined immunodeficiency (SCID): The Primary Immune Deficiency Treatment Consortium (PIDTC) 2022 Definitions

Immune Thrombocytopenia in Children: Consensus and Controversies

Mechanistic understanding of the combined immunodeficiency in complete human CARD11 deficiency

Primary Immunodeficiencies and Hematologic Malignancies: A Diagnostic Approach

Survey of Infection Control Precautions for Patients with Severe Combined Immune Deficiency

Subcutaneous panniculitis-like T-cell lymphoma in two unrelated individuals with BENTA disease

Case Report: Biallelic Loss of Function ATM due to Pathogenic Synonymous and Novel Deep Intronic Variant c.1803-270T > G Identified by Genome Sequencing in a Child With Ataxia-Telangiectasia

Considering immunologic and genetic evaluation for HLH in neuroinflammation: A case of Griscelli syndrome type 2 with neurological symptoms and a lack of albinism

Hydroxyurea for lifelong transfusion-dependent β-thalassemia: A meta-analysis

Hydroxyurea for nontransfusion-dependent β-thalassemia: A systematic review and meta-analysis

Immune function in childhood cancer survivors: a Children's Oncology Group review

Long-Term Immune Reconstitution in ADA-Deficient Patients Treated With Elapegademase: A Real-World Experience

One-pot DTECT enables rapid and efficient capture of genetic signatures for precision genome editing and clinical diagnostics

Secondary Reporting of G6PD Deficiency on Newborn Screening

Combined Autoimmune Cytopenias Presenting in Childhood

Case report: Blotchy skin in a puffy neonate: is there a new association?

One-pot DTECT enables rapid and efficient capture of genetic signatures for precision genome editing and clinical diagnostics

Postpartum HLA-Matched Bone Marrow Donation from Mother to Neonate for Reticular Dysgenesis

Immunologic Aspects of DiGeorge Syndrome

Hydroxyurea For Non-Transfusion Dependent β-Thalassemia: A Systematic Review and Meta-Analysis

Granulomatous lymphocytic interstitial lung disease in infancy

Fludarabine, Campath, and Low-Dose Cyclophosphamide (FCClow) with or without TBI Conditioning Results in Excellent Transplant Outcomes in Children with Severe Aplastic Anemia

A new genetic subgroup of chronic granulomatous disease with autosomal recessive mutations in p40phox and selective defects in neutrophil NADPH oxidase activity

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