Biblio

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Journal Article
Egg D, Rump ICaroline, Mitsuiki N, Rojas-Restrepo J, Maccari M-E, Schwab C, Gabrysch A, Warnatz K, Goldacker S, Patiño V, et al. Therapeutic options for CTLA-4 Insufficiency. J Allergy Clin Immunol. 2021.
Groß M, Speckmann C, May A, Gajardo-Carrasco T, Wustrau K, Maier SLena, Panning M, Huzly D, Agaimy A, Bryceson YT, et al. Rubella vaccine-induced granulomas are a novel phenotype with incomplete penetrance of genetic defects in cytotoxicity. J Allergy Clin Immunol. 2021.
Wehr C, Gennery AR, Lindemans C, Schulz A, Hoenig M, Marks R, Recher M, Gruhn B, Holbro A, Heijnen I, et al. Multicenter experience in hematopoietic stem cell transplantation for serious complications of common variable immunodeficiency. J Allergy Clin Immunol. 2015.
Leiding JW, Vogel TP, Santarlas VGJ, Mhaskar R, Smith MR, Carisey A, Vargas-Hernández A, Silva-Carmona M, Heeg M, Rensing-Ehl A, et al. Monogenic Early-Onset Lymphoproliferation and Autoimmunity: The Natural History of STAT3 GOF Syndrome. J Allergy Clin Immunol. 2022.
Nishimura A, Uppuluri R, Raj R, Swaminathan VVellaicham, Cheng Y, Abu-Arja RF, Fu B, Laberko A, Albert MH, Hauck F, et al. An International Survey of Allogeneic Hematopoietic Cell Transplantation for X-Linked Agammaglobulinemia. J Clin Immunol. 2023.
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.
Zeiser R, Warnatz K, Rosshart S, Tanriver Y. GVHD, IBD and primary immunodeficiencies: The gut as a target of immunopathology resulting from impaired immunity. Eur J Immunol. 2022.
Cossarizza A, Chang H-D, Radbruch A, Abrignani S, Addo R, Akdis M, Andrä I, Andreata F, Annunziato F, Arranz E, et al. Guidelines for the use of flow cytometry and cell sorting in immunological studies (third edition). Eur J Immunol. 2021;51(12):2708-3145.
Staus P, Rusch S, El-Helou S, Müller G, Krausz M, Geisen U, Caballero-Oteyza A, Krüger R, Bakhtiar S, Lee-Kirsch MAe, et al. The GAIN Registry - a New Prospective Study for Patients with Multi-organ Autoimmunity and Autoinflammation. J Clin Immunol. 2023.
Stepensky P, Keller B, Abuzaitoun O, Shaag A, Yaacov B, Unger S, Seidl M, Rizzi M, Weintraub M, Elpeleg O, et al. Extending the clinical and immunological phenotype of human Interleukin-21 receptor deficiency. Haematologica. 2014.
von Spee-Mayer C, Koemm V, Wehr C, Goldacker S, Kindle G, Bulashevska A, Proietti M, Grimbacher B, Ehl S, Warnatz K. Evaluating laboratory criteria for combined immunodeficiency in adult patients diagnosed with common variable immunodeficiency. Clin Immunol. 2019.
Jägle S, Heeg M, Grün S, Rensing-Ehl A, Maccari MElena, Klemann C, Jones N, Lehmberg K, Bettoni C, Warnatz K, et al. Distinct molecular response patterns of activating STAT3 mutations associate with penetrance of lymphoproliferation and autoimmunity. Clin Immunol. 2019:108316.
Haimel M, Pazmandi J, Heredia RJiménez, Dmytrus J, Bal SKöstel, Zoghi S, van Daele P, Briggs TA, Wouters C, Bader-Meunier B, et al. Curation and Expansion of Human Phenotype Ontology for Defined Groups of Inborn Errors of Immunity. J Allergy Clin Immunol. 2021.
Lorenzini T, Fliegauf M, Klammer N, Frede N, Proietti M, Bulashevska A, Camacho-Ordonez N, Varjosalo M, Kinnunen M, de Vries E, et al. Characterization of the clinical and immunological phenotype and management of 157 individuals with 56 distinct heterozygous NFKB1 mutations. J Allergy Clin Immunol. 2020.
van Laar JM, Farge D, Sont JK, Naraghi K, Marjanovic Z, Larghero J, Schuerwegh AJ, Marijt EWA, Vonk MC, Schattenberg AV, et al. Autologous Hematopoietic Stem Cell Transplantation vs Intravenous Pulse Cyclophosphamide in Diffuse Cutaneous Systemic Sclerosis: A Randomized Clinical Trial. JAMA. 2014;311(24):2490-2498.
van de Ven AAJM, Warnatz K. The autoimmune conundrum in common variable immunodeficiency disorders. Curr Opin Allergy Clin Immunol. 2015.
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.