Maria Chitty-Lopez

Autologous Ex Vivo Lentiviral Gene Therapy for Pediatric Patients with Severe Leukocyte Adhesion Deficiency-I Provides Sustained Efficacy with a Favorable Safety Profile

Claire Booth, Julián Sevilla, Elena Almarza, Caroline Y. Kuo et autres

Background Severe leukocyte adhesion deficiency-I (LAD-I) results from biallelic deleterious ITGB2 variants leading to deficient/defective CD18 leukocyte expression and impaired endothelial adhesion and extravasation. Children with <2% of normal CD18 neutrophil expression experience recurrent, life-threatening bacterial and fungal infections, and extensive mortality. …

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International clinical consensus on leukocyte adhesion deficiency-I: Modified Delphi analysis

Jennifer R. Heimall, Luis Ignacio Gonzalez-Granado, Claire Booth, Winnie Ip et autres

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Lentiviral Gene Therapy for Severe Leukocyte Adhesion Deficiency Type 1

Claire Booth, Julián Sevilla, Elena Almarza, Caroline Y. Kuo et autres

(Abstracted from N Engl J Med 2025;392:1698-1709) Leukocyte adhesion deficiency type I (LAD-I) is an autosomal recessive immune disorder marked by recurrent, life-threatening infections, with 25% to 39% mortality before age 2 years without curative therapy. Common symptoms include umbilical-cord complications, poorly …

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Lentiviral Gene Therapy for Severe Leukocyte Adhesion Deficiency Type 1

Claire Booth, Julián Sevilla, Elena Almarza, Caroline Y. Kuo et autres

Background The β 2 common integrin subunit CD18 is essential for leukocyte–endothelial adhesion and extravasation to inflamed or infected tissue. Damaging variants in ITGB2 , which encodes CD18, cause leukocyte adhesion deficiency type I (LAD-I), an inborn error of immunity that leads …

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Understanding the Burdens of Illness and Treatment in Severe Leukocyte Adhesion Deficiency Type I (LAD-I): Results from a Multi-Case Study with Caregivers

Meaghan O’Connor, Michael P. Keith, Kristi Jackson, Maria Chitty-Lopez et autres

Background Leukocyte adhesion deficiency type I (LAD-I) is a rare inborn error of immunity affecting approximately 1 in 1 million individuals worldwide. Severe LAD-I is characterized by frequent life-threatening infections and significant pediatric mortality. Although this can have devastating effects on children …

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CO62 Allogeneic Stem Cell Transplantation Rates and Outcomes in Severe Leukocyte Adhesion Deficiency Type I (LAD-I): A Systematic Literature Review

Joana Matos, Maria Chitty-Lopez, Suzanne Dawn Turner, Michael Bailey et autres

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International Clinical Consensus on Leukocyte Adhesion Deficiency-I: A Modified Delphi Analysis

Jennifer R. Heimall, Luis Ignacio González‐Granado, Claire Booth, Patrice Carter et autres

Background Leukocyte adhesion deficiency (LAD-I) is a rare autosomal recessive inborn error of immunity (IEI) caused by mutation of ITGB2, encoding for CD18, which is essential for leukocyte endothelial adhesion and migration to tissues. LAD-I is predominantly characterized by severe infections, inflammation …

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Allogeneic Hematopoietic Stem Cell Transplantation (allo-HSCT) Outcomes in Leukocyte Adhesion Deficiency Type -I

Claire Booth, Patrick J. Gilbert, Luuk Gras, Hawazen Saleh Alsaedi et autres

Background: Leukocyte adhesion deficiency type I (LAD-I) is a rare autosomal recessive inborn error of immunity caused by loss of function mutations in ITGB2, which encodes for the β2 common integrin subunit CD18, impairing leukocyte adhesion to inflamed endothelium and migration to …

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RP-L301, a Lentiviral-Mediated Gene Therapy for Pyruvate Kinase Deficiency (PKD): A Phase 2 Clinical Trial Design

Ami J. Shah, José Luis López Lorenzo, Rachael F. Grace, Eduard Johannes van Beers et autres

Introduction: Red cell pyruvate kinase deficiency (PKD) is a rare, autosomal recessive, non-spherocytic hemolytic anemia caused by mutations in the pyruvate kinase liver and red blood cell (PKLR) gene, resulting in a glycolytic defect, causing increased red cell destruction, hyperbilirubinemia, splenomegaly, and …

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Granulocyte Transfusions in Patients with Chronic Granulomatous Disease Undergoing Hematopoietic Cell Transplantation or Gene Therapy

Danielle E. Arnold, Deepak Chellapandian, Suhag H Parikh, Kanwaldeep K. Mallhi et autres

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Case Report: Unmanipulated Matched Sibling Donor Hematopoietic Cell Transplantation In TBX1 Congenital Athymia: A Lifesaving Therapeutic Approach When Facing a Systemic Viral Infection

Maria Chitty-Lopez, Carla M. Duff, Gretchen Vaughn, Jessica R. Trotter et autres

Congenital athymia can present with severe T cell lymphopenia (TCL) in the newborn period, which can be detected by decreased T cell receptor excision circles (TRECs) on newborn screening (NBS). The most common thymic stromal defect causing selective TCL is 22q11.2 deletion …

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Above the Regular Tide: Primary Immune Regulatory Disorders (PIRD) Diagnosis and Treatment Considerations

Maria Chitty-Lopez, Donya Imanirad, Jennifer W. Leiding

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