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Omenn syndrome: inflammation in leaky severe combined immunodeficiency.
Villa A, Notarangelo LD, Roifman CM. Villa A, et al. J Allergy Clin Immunol. 2008 Dec;122(6):1082-6. doi: 10.1016/j.jaci.2008.09.037. Epub 2008 Nov 6. J Allergy Clin Immunol. 2008. PMID: 18992930 Review.
Unlike typical SCID, patients with OS have enlarged lymphoid tissue, severe erythroderma, increased IgE levels, and eosinophilia. The inflammation observed in these patients is believed to be triggered by clonally expanded T cells, which are predominantly of the T(H)2 type …
Unlike typical SCID, patients with OS have enlarged lymphoid tissue, severe erythroderma, increased IgE levels, and eosinophilia. The inflam …
Human DOCK2 Deficiency: Report of a Novel Mutation and Evidence for Neutrophil Dysfunction.
Moens L, Gouwy M, Bosch B, Pastukhov O, Nieto-Patlàn A, Siler U, Bucciol G, Mekahli D, Vermeulen F, Desmet L, Maebe S, Flipts H, Corveleyn A, Moshous D, Philippet P, Tangye SG, Boisson B, Casanova JL, Florkin B, Struyf S, Reichenbach J, Bustamante J, Notarangelo LD, Meyts I. Moens L, et al. J Clin Immunol. 2019 Apr;39(3):298-308. doi: 10.1007/s10875-019-00603-w. Epub 2019 Mar 5. J Clin Immunol. 2019. PMID: 30838481 Free PMC article.
The mutation results in alternative splicing and a complete loss of DOCK2 protein expression. The patients presented with leaky severe combined immunodeficiency or Omenn syndrome. The novel mutation affects EBV-B cell migration and results in NK cell d …
The mutation results in alternative splicing and a complete loss of DOCK2 protein expression. The patients presented with leaky se …