Biblio

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Journal Article

Gothe F, Spegarova JStremenova, Hatton CF, Griffin H, Sargent T, Cowley SA, James W, Roppelt A, Shcherbina A, Hauck F, et al. Aberrant inflammatory responses to type I interferon in STAT2 or IRF9 deficiency. J Allergy Clin Immunol. 2022.

Laberko A, Mukhinа A, Machneva E, Pashchenko O, Bykova T, Vahonina L, Bronin G, Skvortsova Y, Skorobogatova E, Kondratenko I, et al. Allogeneic Hematopoietic Stem Cell Transplantation Activity in Inborn Errors of Immunity in Russian Federation. J Clin Immunol. 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.

Donkó A, Sharapova SO, Kabat J, Ganesan S, Hauck F, Marois L, Abbott J, Moshous D, Williams KW, Campbell N, et al. Clinical and functional spectrum of RAC2-related immunodeficiency. Blood. 2024.

Le Coz C, Nguyen DN, Su C, Nolan BE, Albrecht AV, Xhani S, Sun D, Demaree B, Pillarisetti P, Khanna C, et al. Constrained chromatin accessibility in PU.1-mutated agammaglobulinemia patients. J Exp Med. 2021;218(7).

Shcherbina A, Larouche J, Fraczek P, Yang BA, Brown LA, Markworth JF, Chung CH, Khaliq M, de Silva K, Choi JJ, et al. Dissecting Murine Muscle Stem Cell Aging through Regeneration Using Integrative Genomic Analysis. Cell Rep. 2020;32(4):107964.

Ferrua F, Galimberti S, Courteille V, Slatter MAnne, Booth C, Moshous D, Neven B, Blanche S, Laberko A, Shcherbina A, et al. Hematopoietic stem cell transplantation for CD40 ligand deficiency: results from an EBMT/ESID-IEWP-SCETIDE-PIDTC Study. J Allergy Clin Immunol. 2019.

Laberko A, Burlakov V, Maier S, Abinun M, Skinner R, Kozlova A, Suri D, Lehmberg K, Müller I, Balashov D, et al. HSCT is effective in patients with PSTPIP1-associated myeloid-related proteinemia inflammatory (PAMI) syndrome. J Allergy Clin Immunol. 2020.

Fischer M, Olbrich P, Hadjadj J, Aumann V, Bakhtiar S, Barlogis V, von Bismarck P, Bloomfield MPhDMarké, Booth C, Buddingh EP, et al. JAK-inhibitor treatment for inborn errors of JAK/STAT signaling: An ESID and EBMT IEWP retrospective study. 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.

Laberko A, Sultanova E, Idarmacheva A, Skvortsova Y, Shelikhova L, Nechesnyuk A, Kobyzeva D, Shcherbina A, Maschan M, Maschan A, et al. Second allogeneic hematopoietic stem cell transplantation in patients with inborn errors of immunity. Bone Marrow Transplant. 2022.

Balashov D, Shcherbina A, Maschan M, Trakhtman P, Skvortsova Y, Shelikhova L, Laberko A, Livshits A, Novichkova G, Maschan A. Single-center experience of unrelated and haploidentical stem cell transplantation with TCR-alpha/beta and CD19 depletion in children with primary immunodeficiency syndromes. Biol Blood Marrow Transplant. 2015.

Vallée TC, Glasmacher JS, Buchner H, Arkwright PD, Behrends U, Bondarenko A, Browning MJ, Buchbinder DK, Cattoni A, Chernyshova L, et al. Wiskott-Aldrich Syndrome: A study on 577 patients defining the genotype as a predictive biomarker for disease severity. Blood. 2024.