Biblio
Allogeneic hematopoietic cell transplantation is effective for p47phox chronic granulomatous disease: a PIDTC study. J Allergy Clin Immunol. 2024.
Autoantibodies against type I IFNs in humans with alternative NF-κB pathway deficiency. Nature. 2023.
Biallelic mutations in DNA ligase 1 underlie a spectrum of immune deficiencies. J Clin Invest. 2018.
Consensus approach for the management of severe combined immune deficiency caused by adenosine deaminase deficiency. J Allergy Clin Immunol. 2018.
. Cutaneous barrier leakage and gut inflammation drive skin disease in Omenn Syndrome. J Allergy Clin Immunol. 2020.
The diagnosis of severe combined immunodeficiency: Implementation of the PIDTC 2022 Definitions. J Allergy Clin Immunol. 2022.
The diagnosis of severe combined immunodeficiency (SCID): The Primary Immune Deficiency Treatment Consortium (PIDTC) 2022 Definitions. J Allergy Clin Immunol. 2022.
Exonic knockout and knockin gene editing in hematopoietic stem and progenitor cells rescues RAG1 immunodeficiency. Sci Transl Med. 2024;16(733):eadh8162.
Expanding the clinical and immunological phenotypes of PAX1-deficient SCID and CID patients. Clin Immunol. 2023:109757.
Fatal autoimmunity in mice reconstituted with human hematopoietic stem cells encoding defective FOXP3. Blood. 2015.
Genetically Corrected RAG2-SCID Human Hematopoietic Stem Cells Restore V(D)J-Recombinase and Rescue Lymphoid Deficiency. Blood Adv. 2023.
Hematopoietic Stem Cell Transplantation for Activated PI3Kδ Syndrome: Who, When and How?. J Allergy Clin Immunol. 2018.
. Hematopoietic stem cell transplantation outcomes for 11 patients with dedicator of cytokinesis 8 deficiency. J Allergy Clin Immunol. 2016.
Human Autosomal Recessive DNA Polymerase Delta 3 Deficiency Presenting as Omenn Syndrome. J Clin Immunol. 2023;44(1):2.
Inherited DOCK2 Deficiency in Patients with Early-Onset Invasive Infections. N Engl J Med. 2015;372(25):2409-2422.
International retrospective study of allogeneic hematopoietic cell transplantation for activated PI3K-delta syndrome. J Allergy Clin Immunol. 2021.
Mulibrey nanism and immunological complications: a comprehensive case report and literature review. Front Immunol. 2023;14:1303251.
Primary Immune Deficiency Treatment Consortium (PIDTC) update. J Allergy Clin Immunol. 2016.
. Relevance of lymphocyte proliferation to PHA in severe combined immunodeficiency (SCID) and T cell lymphopenia. Clin Immunol. 2024:109942.
Targeted Pharmacologic Immunomodulation for Inborn Errors of Immunity. Br J Clin Pharmacol. 2020.
.