Biblio

Author Title [ Type(Desc)] Year
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Journal Article
Grunebaum E, Arnold DE, Logan B, Parikh S, Marsh RA, Griffith LM, Mallhi K, Chellapandian D, Lim SSi, Deal CL, et al. Allogeneic hematopoietic cell transplantation is effective for p47phox chronic granulomatous disease: a PIDTC study. J Allergy Clin Immunol. 2024.
Le Voyer T, Parent AV, Liu X, Cederholm A, Gervais A, Rosain J, Nguyen T, Lorenzo MPerez, Rackaityte E, Rinchai D, et al. Autoantibodies against type I IFNs in humans with alternative NF-κB pathway deficiency. Nature. 2023.
Maffucci P, Chavez J, Jurkiw TJ, O'Brien PJ, Abbott JK, Reynolds PR, Worth A, Notarangelo LD, Felgentreff K, Cortes P, et al. Biallelic mutations in DNA ligase 1 underlie a spectrum of immune deficiencies. J Clin Invest. 2018.
Zhou Y, Shalhoub RN, Rogers SN, Yu S, Gu M, Fabre MAlice, Quiros PM, Diangson A, Deng W, Anand S, et al. Clonal Hematopoiesis Is Not Significantly Associated with Covid-19 Disease Severity. Blood. 2022.
Kohn DB, Hershfield MS, Puck JM, Aiuti A, Blincoe A, H Gaspar B, Notarangelo LD, Grunebaum E. Consensus approach for the management of severe combined immune deficiency caused by adenosine deaminase deficiency. J Allergy Clin Immunol. 2018.
Rigoni R, Fontana E, Dobbs K, Marrella V, Taverniti V, Maina V, Facoetti A, D'Amico G, Al-Herz W, Cruz-Munoz MErnesto, et al. Cutaneous barrier leakage and gut inflammation drive skin disease in Omenn Syndrome. J Allergy Clin Immunol. 2020.
Dvorak CC, Haddad E, Heimall J, Dunn E, Cowan MJ, Pai S-Y, Kapoor N, Satter LForbes, Buckley RH, O'Reilly RJ, et al. The diagnosis of severe combined immunodeficiency: Implementation of the PIDTC 2022 Definitions. J Allergy Clin Immunol. 2022.
Dvorak CC, Haddad E, Heimall J, Dunn E, Buckley RH, Kohn DB, Cowan MJ, Pai S-Y, Griffith LM, Cuvelier GDE, et al. The diagnosis of severe combined immunodeficiency (SCID): The Primary Immune Deficiency Treatment Consortium (PIDTC) 2022 Definitions. J Allergy Clin Immunol. 2022.
Björkman A, Du L, Felgentreff K, Rosner C, Kamdar RPankaj, Kokaraki G, Matsumoto Y, E Davies G, van der Burg M, Notarangelo LD, et al. DNA-PKcs Is Involved in Ig Class Switch Recombination in Human B Cells. J Immunol. 2015.
Castiello MCarmina, Brandas C, Ferrari S, Porcellini S, Sacchetti N, Canarutto D, Draghici E, Merelli I, Barcella M, Pelosi G, et al. Exonic knockout and knockin gene editing in hematopoietic stem and progenitor cells rescues RAG1 immunodeficiency. Sci Transl Med. 2024;16(733):eadh8162.
Yakici N, Kreins AY, Catak MCihangir, Babayeva R, Erman B, Kenney H, Gungor HEke, Cea PA, Kawai T, Bosticardo M, et al. Expanding the clinical and immunological phenotypes of PAX1-deficient SCID and CID patients. Clin Immunol. 2023:109757.
Goettel JA, Biswas S, Lexmond WS, Yeste A, Passerini L, Patel B, Yang S, Sun J, Ouahed J, Shouval DS, et al. Fatal autoimmunity in mice reconstituted with human hematopoietic stem cells encoding defective FOXP3. Blood. 2015.
Pavel-Dinu M, Gardner CL, Nakauchi Y, Kawai T, Delmonte OM, Palterer B, Bosticardo M, Pala F, Viel S, Malech HL, et al. Genetically Corrected RAG2-SCID Human Hematopoietic Stem Cells Restore V(D)J-Recombinase and Rescue Lymphoid Deficiency. Blood Adv. 2023.
Notarangelo LD. Hematopoietic Stem Cell Transplantation for Activated PI3Kδ Syndrome: Who, When and How?. J Allergy Clin Immunol. 2018.
Al-Herz W, Chu JI, van der Spek J, Raghupathy R, Massaad MJ, Keles S, Biggs CM, Cockerton L, Chou J, Dbaibo G, et al. Hematopoietic stem cell transplantation outcomes for 11 patients with dedicator of cytokinesis 8 deficiency. J Allergy Clin Immunol. 2016.
Riestra MRodrigo, Pillay BA, Willemsen M, Kienapfel V, Ehlers L, Delafontaine S, Pinton A, Wouters M, Hombrouck A, Sauer K, et al. Human Autosomal Recessive DNA Polymerase Delta 3 Deficiency Presenting as Omenn Syndrome. J Clin Immunol. 2023;44(1):2.
Schuetz C, Gerke J, Ege MJohannes, Walter JEszter, Kusters M, Worth AJJ, Kanakry JA, Dimitrova D, Wolska-Kusnierz B, Chen K, et al. Hypomorphic RAG deficiency: impact of disease burden on survival and thymic recovery argues for early diagnosis and HSCT. Blood. 2022.
Dobbs K, Conde CDomínguez, Zhang S-Y, Parolini S, Audry M, Chou J, Haapaniemi E, Keles S, Bilic I, Okada S, et al. Inherited DOCK2 Deficiency in Patients with Early-Onset Invasive Infections. N Engl J Med. 2015;372(25):2409-2422.
Dimitrova D, Nademi Z, Maccari MElena, Ehl S, Uzel G, Tomoda T, Okano T, Imai K, Carpenter B, Ip W, et al. International retrospective study of allogeneic hematopoietic cell transplantation for activated PI3K-delta syndrome. J Allergy Clin Immunol. 2021.
Gazzin A, Pala F, Bosticardo M, Niemela J, Stoddard J, Biasin E, Quarello P, Carli D, Ferroni F, Delmonte OM, et al. Mulibrey nanism and immunological complications: a comprehensive case report and literature review. Front Immunol. 2023;14:1303251.
Labrosse R, Chu J, Armant M, Everett JK, Pellin D, Kareddy N, Frelinger AL, Henderson LA, O'Connell AE, Biswas A, et al. Outcomes of Hematopoietic Stem Cell Gene Therapy for Wiskott-Aldrich Syndrome. Blood. 2023.
Griffith LM, Cowan MJ, Notarangelo LD, Kohn DB, Puck JM, Shearer WT, Burroughs LM, Torgerson TR, Decaluwe H, Haddad E. Primary Immune Deficiency Treatment Consortium (PIDTC) update. J Allergy Clin Immunol. 2016.
Abraham RS, Basu A, Heimall JR, Dunn E, Yip A, Kapadia M, Kapoor N, Satter LForbes, Buckley R, O'Reilly R, et al. Relevance of lymphocyte proliferation to PHA in severe combined immunodeficiency (SCID) and T cell lymphopenia. Clin Immunol. 2024:109942.
Sacco KA, Stack M, Notarangelo LD. Targeted Pharmacologic Immunomodulation for Inborn Errors of Immunity. Br J Clin Pharmacol. 2020.