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Defective actin accumulation impairs human natural killer cell function in patients with dedicator of cytokinesis 8 deficiency.
Mizesko MC, Banerjee PP, Monaco-Shawver L, Mace EM, Bernal WE, Sawalle-Belohradsky J, Belohradsky BH, Heinz V, Freeman AF, Sullivan KE, Holland SM, Torgerson TR, Al-Herz W, Chou J, Hanson IC, Albert MH, Geha RS, Renner ED, Orange JS. Mizesko MC, et al. Among authors: albert mh. J Allergy Clin Immunol. 2013 Mar;131(3):840-8. doi: 10.1016/j.jaci.2012.12.1568. Epub 2013 Feb 4. J Allergy Clin Immunol. 2013. PMID: 23380217 Free PMC article.
The genotype of the original Wiskott phenotype.
Binder V, Albert MH, Kabus M, Bertone M, Meindl A, Belohradsky BH. Binder V, et al. Among authors: albert mh. N Engl J Med. 2006 Oct 26;355(17):1790-3. doi: 10.1056/NEJMoa062520. N Engl J Med. 2006. PMID: 17065640 Free article.
Improving cellular therapy for primary immune deficiency diseases: recognition, diagnosis, and management.
Griffith LM, Cowan MJ, Notarangelo LD, Puck JM, Buckley RH, Candotti F, Conley ME, Fleisher TA, Gaspar HB, Kohn DB, Ochs HD, O'Reilly RJ, Rizzo JD, Roifman CM, Small TN, Shearer WT; Workshop Participants. Griffith LM, et al. J Allergy Clin Immunol. 2009 Dec;124(6):1152-60.e12. doi: 10.1016/j.jaci.2009.10.022. J Allergy Clin Immunol. 2009. PMID: 20004776 Free PMC article.
ORAI1 deficiency and lack of store-operated Ca2+ entry cause immunodeficiency, myopathy, and ectodermal dysplasia.
McCarl CA, Picard C, Khalil S, Kawasaki T, Röther J, Papolos A, Kutok J, Hivroz C, Ledeist F, Plogmann K, Ehl S, Notheis G, Albert MH, Belohradsky BH, Kirschner J, Rao A, Fischer A, Feske S. McCarl CA, et al. Among authors: albert mh. J Allergy Clin Immunol. 2009 Dec;124(6):1311-1318.e7. doi: 10.1016/j.jaci.2009.10.007. J Allergy Clin Immunol. 2009. PMID: 20004786 Free PMC article.
Therapeutic strategy in p47-phox deficient chronic granulomatous disease presenting as inflammatory bowel disease.
Freudenberg F, Wintergerst U, Roesen-Wolff A, Albert MH, Prell C, Strahm B, Koletzko S, Ehl S, Roos D, Tommasini A, Ventura A, Belohradsky BH, Seger R, Roesler J, Güngör T. Freudenberg F, et al. Among authors: albert mh. J Allergy Clin Immunol. 2010 Apr;125(4):943-946.e1. doi: 10.1016/j.jaci.2010.01.035. J Allergy Clin Immunol. 2010. PMID: 20371400 No abstract available.
Clinical and immunological correction of DOCK8 deficiency by allogeneic hematopoietic stem cell transplantation following a reduced toxicity conditioning regimen.
Boztug H, Karitnig-Weiß C, Ausserer B, Renner ED, Albert MH, Sawalle-Belohradsky J, Belohradsky BH, Mann G, Horcher E, Rümmele-Waibel A, Geyeregger R, Lakatos K, Peters C, Lawitschka A, Matthes-Martin S. Boztug H, et al. Among authors: albert mh. Pediatr Hematol Oncol. 2012 Oct;29(7):585-94. doi: 10.3109/08880018.2012.714844. Epub 2012 Aug 16. Pediatr Hematol Oncol. 2012. PMID: 22897717
A novel gain-of-function IKBA mutation underlies ectodermal dysplasia with immunodeficiency and polyendocrinopathy.
Schimke LF, Rieber N, Rylaarsdam S, Cabral-Marques O, Hubbard N, Puel A, Kallmann L, Sombke SA, Notheis G, Schwarz HP, Kammer B, Hökfelt T, Repp R, Picard C, Casanova JL, Belohradsky BH, Albert MH, Ochs HD, Renner ED, Torgerson TR. Schimke LF, et al. Among authors: albert mh. J Clin Immunol. 2013 Aug;33(6):1088-99. doi: 10.1007/s10875-013-9906-1. Epub 2013 May 25. J Clin Immunol. 2013. PMID: 23708964
145 results