Biblio

Author Title [ Type(Desc)] Year
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Journal Article
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.
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.
Volk T, Pannicke U, Reisli I, Bulashevska A, Ritter J, Björkman A, Schäffer AA, Fliegauf M, Sayar EH, Salzer U, et al. DCLRE1C (ARTEMIS) mutations causing phenotypes ranging from atypical severe combined immunodeficiency to mere antibody deficiency. Hum Mol Genet. 2015.
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.
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.
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.
Frede N, Rojas-Restrepo J, de Oteyza ACaballero, Buchta M, Hübscher K, Gámez-Díaz L, Proietti M, Saghafi S, Chavoshzadeh Z, Soler-Palacín P, et al. Genetic Analysis of a Cohort of 275 Patients with Hyper-IgE Syndromes and/or Chronic Mucocutaneous Candidiasis. J Clin Immunol. 2021.
Caballero-Oteyza A, Crisponi L, Peng XP, Yauy K, Volpi S, Giardino S, Freeman AF, Grimbacher B, Proietti M. GenIA, the Genetic Immunology Advisor database for Inborn Errors of Immunity. J Allergy Clin Immunol. 2023.
Tesch VKatharina, Abolhassani H, Shadur B, Zobel J, Mareika Y, Sharapova S, Karakoc-Aydiner E, Rivière JG, Garcia-Prat M, Moes N, et al. Long-term outcome of LRBA deficiency in 76 patients after various treatment modalities as evaluated by the immune deficiency and dysregulation activity (IDDA) score. J Allergy Clin Immunol. 2019.
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.
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.
Uhlig HH, Booth C, Cho J, Dubinsky M, Griffiths AM, Grimbacher B, Hambleton S, Huang Y, Jones K, Kammermeier J, et al. Precision medicine in monogenic inflammatory bowel disease: proposed mIBD REPORT standards. Nat Rev Gastroenterol Hepatol. 2023.
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.