Biblio

Author Title Type [ Year(Desc)]
Filters: Author is Geha, Raif S  [Clear All Filters]
2015
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.
2016
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.
2019
Lougaris V, Chou J, Beano A, Wallace JG, Baronio M, Gazzurelli L, Lorenzini T, Moratto D, Tabellini G, Parolini S, et al. A monoallelic activating mutation in RAC2 resulting in a combined immunodeficiency. J Allergy Clin Immunol. 2019.
2020
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.
Whangbo JS, Chou J, Al-Dhekri H, Harris M, Geha RS, Pai S-Y, Al-Herz W. Hematopoietic stem cell transplantation is a curative therapy for transferrin receptor 1 (TFRC) deficiency. J Allergy Clin Immunol Pract. 2020.
Wildermann C, Alosaimi M, Liebenehm S, Jacobsen E, Barth TFE, Möller P, Debatin K-M, Schulz A, Sirin M, Abosoudah IF, et al. Successful hematopoietic stem cell transplantation in a 4-1BB deficient patient with EBV-induced lymphoproliferation. Clin Immunol. 2020:108639.
2022
Jamee M, Azizi G, Baris S, Karakoc-Aydiner E, Ozen A, Kilic SS, Kose H, Chavoshzadeh Z, Mahdaviani SAlireza, Momen T, et al. Clinical, immunological, molecular and therapeutic findings in monogenic immune dysregulation diseases: Middle East and North Africa registry. Clin Immunol. 2022:109131.
Janssen E, Alosaimi MF, Alazami AM, Alsuliman A, Alaiya A, Al-Saud B, Al-Mousa H, Al-Zaid TJassim, Smith E, Platt CD, et al. A homozygous truncating mutation of FGL2 is associated with immune dysregulation. J Allergy Clin Immunol. 2022.