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Novel SAMD9 Mutation in a Patient With Immunodeficiency, Neutropenia, Impaired Anti-CMV Response, and Severe Gastrointestinal Involvement.
Formankova R, Kanderova V, Rackova M, Svaton M, Brdicka T, Riha P, Keslova P, Mejstrikova E, Zaliova M, Freiberger T, Grombirikova H, Zemanova Z, Vlkova M, Fencl F, Copova I, Bronsky J, Jabandziev P, Sedlacek P, Soukalova J, Zapletal O, Stary J, Trka J, Kalina T, Skvarova Kramarzova K, Hlavackova E, Litzman J, Fronkova E. Formankova R, et al. Among authors: litzman j. Front Immunol. 2019 Sep 18;10:2194. doi: 10.3389/fimmu.2019.02194. eCollection 2019. Front Immunol. 2019. PMID: 31620126 Free PMC article.
Agammaglobulinaemia in a girl with a mosaic of ring 18 chromosome.
Litzman J, Brysová V, Gaillyová R, Thon V, Pijácková A, Michalová K, Zemanová Z, Lokaj J. Litzman J, et al. J Paediatr Child Health. 1998 Feb;34(1):92-4. doi: 10.1046/j.1440-1754.1998.00162.x. J Paediatr Child Health. 1998. PMID: 9568951
Mannose-binding lectin gene polymorphic variants predispose to the development of bronchopulmonary complications but have no influence on other clinical and laboratory symptoms or signs of common variable immunodeficiency.
Litzman J, Freiberger T, Grimbacher B, Gathmann B, Salzer U, Pavlík T, Vlcek J, Postránecká V, Trávnícková Z, Thon V. Litzman J, et al. Clin Exp Immunol. 2008 Sep;153(3):324-30. doi: 10.1111/j.1365-2249.2008.03700.x. Epub 2008 Jul 11. Clin Exp Immunol. 2008. PMID: 18637104 Free PMC article.
143 results