Mezinárodní publikace Imunodeficience 2009-2014
(Publikace členů imunodeficitní skupiny, vzhledem ke spolupráci se některé z publikací opakují)
Ústav imunologie, 2.LF UK a FN Motol, Praha
Šedivá A, Poloučková A, Podrazil M, Froňková E, Kalina T.Characterization of the B-cell compartment in a patient
with Schnitzler syndrome.Scand J Rheumatol. 2010, 40(2):158-60
Toplak N, Doležalová P, Constantin T, Šedivá A, Pašić S, Cižnar P, Wolska-Kuśnierz B, Harjaček M, Stefan M,
Ruperto N, Gattorno M, Avčin T; Eastern/Central European autoinflammatory collaborating group for the Paediatric
Rheumatology International Trials Organization (PRINTO) and Eurofever Project.Periodic fever syndromes in Eastern
and Central European countries: results of a pediatric multinational survey. Pediatr Rheumatol Online J. 2010 Dec
2;8:29.
Horváth R, Rožková D, Lašťovička J, Poloučková A, Sedláček P, Sedivá A, Spíšek R Expansion of T helper type 17
lymphocytes in patients with chronic granulomatous disease. Clin Exp Immunol. 2011, 166(1):26-33
Maródi L; J Project Study Group The creation and progress of the J Project in Eastern and Central Europe. Ann N Y
Acad Sci. 20111238:65-73
de Vries E; European Society for Immunodeficiencies (ESID) members.Patient-centred screening for primary
immunodeficiency, a multi-stage diagnostic protocol designed for non-immunologists: 2011 update. Clin Exp
Immunol. 2012,167(1):108-19
Patel K, Akhter J, Kobrynski L, Gathman B, Davis O, Sullivan KE; International DiGeorge Syndrome
Immunodeficiency Consortium Immunoglobulin deficiencies: the B-lymphocyte side of DiGeorge Syndrome.
Pediatr. 2012,161(5):950-3
J
Šedivá A., Horváth R., Maňásek V., Gregorová A., Plevová P., Horáčková M., Tesařová M., Toplak N., Debeljak M.,
Cluster of patients with Familial Mediterranean Fever and heterozygous carriers of mutations in MEFV gene in the
Czech Republic, Clinical Genetics 2013,
IF 4,247
Soltezs B., Tóth B., Shabashova N., Bondarenko A., Okada S., Cypowyj S., Abhyankar A., Csorba G., Taskó S.,
Sarkadi AK, Méhes L., Rozsíval P., Neumann D., Chernyshoova L., Tulassay Z., Puel A., Casanova JL., Šedivá A.,
Litzman J., Maródi L., New and reccurent gain-of-function STAT1 mutations in patients with chronic mucocutaneous
candidiasis from Eastern and Central Europe
Journal of Medical
Genetics, 2013, 50(9):567-78
Gathmann B, Mahlaoui N; CEREDIH, Gérard L, Oksenhendler E, Warnatz K, Schulze I, Kindle G, Kuijpers TW; Dutch
WID, van Beem RT, Guzman D, Workman S, Soler-Palacín P, De Gracia J, Witte T, Schmidt RE, Litzman J,
Hlavackova E, Thon V, Borte M, Borte S, Kumararatne D, Feighery C, Longhurst H, Helbert M, Szaflarska A, Šedivá
A, Belohradsky BH, Jones A, Baumann U, Meyts I, Kutukculer N, Wågström P, Galal NM, Roesler J, Farmaki E,
Zinovieva N, Ciznar P, Papadopoulou-Alataki E, Bienemann K, Velbri S, Panahloo Z, Grimbacher B; European
Society for Immunodeficiencies Registry Working Party. Clinical picture and treatment of 2212 patients with common
variable immunodeficiency. J Allergy Clin Immunol. 2014, 134(1):116-26
Kracker S, Curtis J, Ibrahim MA, Šedivá A, Salisbury J, Campr V, Debré M, Edgar JD, Imai K, Picard C, Casanova
JL, Fischer A, Nejentsev S, Durandy A. Occurrence of B-cell lymphomas in patients with activated phosphoinositide
3-kinase δ syndrome.
J Allergy Clin Immunol.
2014, 134(1):233-6
Klocperk A, Grecová J, Šišmová K, Kayserová J, Froňková E, Šedivá A. Helios Expression in T-regulatory Cells in
Patients with di George Syndrome. J Clin Immunol. 2014, 34(7):864-70
Šedivá A, Chapel H, Gardulf A; European Immunoglobulin Map Group (35 European Countries) for European Society
for Immunodeficiencies (ESID) Primary Immunodeficiencies Care in Development Working Party.Europe
immunoglobulin map. Clin Exp Immunol. 2014 Dec;178 Suppl 1:141-3.
Froňková E, Klocperk A, Svatoň M, Nováková M, Kotrová M, Kayserová J, Kalina T, Keslová P, Votava F,
Vinohradská H, Freiberger T, Mejstříková E, Trka J, Sedivá A.The TREC/KREC assay for the diagnosis and
monitoring of patients with DiGeorge syndrome. PLoS One. 2014 Dec 8;9(12):e114514
Klinika dětské hematoonkologie, 2.LFUK a FN v Motole
Similar recombination-activating gene (RAG) mutations result in similar immunobiological effects but in different
clinical phenotypes.
IJspeert H, Driessen GJ, Moorhouse MJ, Hartwig NG, Wolska-Kusnierz B, Kalwak K, Pituch-Noworolska A,
Kondratenko I, van Montfrans JM, Mejstrikova E, Lankester AC, Langerak AW, van Gent DC, Stubbs AP, van
Dongen JJ, van der Burg MJ Allergy Clin Immunol. 2014 Apr;133(4):1124-33.
Sequential decisions on FAS sequencing guided by biomarkers in patients with lymphoproliferation and autoimmune
cytopenia.
Rensing-Ehl A, Janda A, Lorenz MR, Gladstone BP, Fuchs I, Abinun M, Albert M, Butler K, Cant A, Cseh AM,
Ebinger M, Goldacker S, Hambleton S, Hebart H, Houet L, Kentouche K, Kühnle I, Lehmberg K, Mejstrikova E,
Niemeyer C, Minkov M, Neth O, Dückers G, Owens S, Rösler J, Schilling FH, Schuster V, Seidel MG, Smisek P,
Sukova M, Svec P, Wiesel T, Gathmann B, Schwarz K, Vach W, Ehl S, Speckmann C.
Haematologica. 2013 Dec;98(12):1948-55.
Skin lesions in a boy with X-linked lymphoproliferative disorder: comparison of 5 SH2D1A deletion cases.
Mejstríková E, Janda A, Hrusák O, Bucková H, Vlcková M, Hancárová M, Freiberger T, Ravcuková B, Vesely K,
Fajkusová L, Kopecková L, Sumerauer D, Kabícková E, Sedivá A, Stary J, Sedlácek Z.
Pediatrics. 2012 Feb;129(2):e523-8.
Characterization of lymphocyte subsets in patients with common variable immunodeficiency reveals subsets of naive
human B cells marked by CD24 expression.
Vlková M, Fronková E, Kanderová V, Janda A, Ruzicková S, Litzman J, Sedivá A, Kalina T.
J Immunol. 2010 Dec 1;185(11):6431-8.
Profiling of polychromatic flow cytometry data on B-cells reveals patients' clusters in common variable
immunodeficiency.
Kalina T, Stuchlý J, Janda A, Hrusák O, Růzicková S, Sedivá A, Litzman J, Vlková M.
Cytometry A. 2009 Nov;75(11):902-9.
Froňková E, Klocperk A, Svatoň M, Nováková M, Kotrová M, Kayserová J, Kalina T, Keslová P, Votava F,
Vinohradská H, Freiberger T, Mejstříková E, Trka J, Sedivá A.The TREC/KREC assay for the diagnosis and
monitoring of patients with DiGeorge syndrome. PLoS One. 2014 Dec 8;9(12):e114514
Ústav klinické imunolgie, FNusA, Brno
Litzman J, Stikarovska D, Pikulova Z, Pavlik T, Pesak S, Thon V, Kuklinek P, Lokaj J. Change in Referral
Diagnoses and Diagnostic Delay in Hypogammaglobulinaemic Patients during 28 Years in a Single Referral
Centre.Int Arch Allergy Immunol. 2010 Apr 1;153(1):95-101.(IF: 2.542)
Litzman J, Nechvatalova J, Xu J, Ticha O, Vlkova M, Hel Z. Chronic immune activation in common variable
immunodeficiency (CVID) is associated with elevated serum levels of soluble CD14 and CD25 but not
endotoxaemia Clin Exp Immunol. 2012 Dec;170(3):321-32.
Litzman J. Influence of FCRN expression on lung decline and intravenous immunoglobulin catabolism in common
variable immunodeficiency patients.
Clin Exp Immunol. 2014 Dec;178 Suppl 1:103-4
Locci M, Draghici E, Marangoni F, Bosticardo M, Catucci M, Aiuti A, Cancrini C, Marodi L, Espanol T, Bredius
RG, Thrasher AJ, Schulz A, Litzman J, Roncarolo MG, Casorati G, Dellabona P, Villa A.The Wiskott-Aldrich
syndrome protein is required for iNKT cell maturation and function. J Exp Med. 2009;206(4):735-42.
Kalina T, Stuchlý J, Janda A, Hrusák O, Růzicková S, Sedivá A, Litzman J, Vlková M. Profiling of polychromatic
flow cytometry data on B-cells reveals patients' clusters in common variable immunodeficiency. Cytometry A.
2009 Nov;75(11):902-9.
Woellner C, Gertz EM, Schäffer AA, Lagos M, Perro M, Glocker EO, Pietrogrande MC, Cossu F, Franco JL,
Matamoros N, Pietrucha B, Heropolitańska-Pliszka E, Yeganeh M, Moin M, Español T, Ehl S, Gennery AR,
Abinun M, Bręborowicz A, Niehues T, Kilic SS, Junker A, Turvey SE, Plebani A, Sánchez B, Garty BZ, Pignata C,
Cancrini C, Litzman J, Sanal O, Baumann U, Bacchetta R, Hsu AP, Davis JN, Hammarström L, Davies EG, Eren
E, Arkwright PD, Moilanen JS, Viemann D, Khan S, Maródi L, Cant AJ, Freeman AF, Puck JM, Holland SM,
Grimbacher B. Mutations in STAT3 and diagnostic guidelines for hyper-IgE syndrome. J Allergy Clin Immunol.
2010 Feb;125(2):424-432.
Freiberger T, Ravcuková B, Grodecká L, Kurecová B, Jarkovský J, Bartonková D, Thon V, Litzman J. No
association of FCRN promoter VNTR polymorphism with the rate of maternal-fetal IgG transfer. J Reprod
Immunol. 2010 Jun;85(2):193-7.
Freiberger T, Grodecká L, Ravčuková B, Kuřecová B, Postránecká V, Vlček J, Jarkovský J, Thon V, Litzman
J.Association of FcRn expression with lung abnormalities and IVIG catabolism in patients with common variable
immunodeficiency. Clin Immunol. 2010 Sep;136(3):419-425
Vlková M, Fronková E, Kanderová V, Janda A, Ruzicková S, Litzman J, Sedivá A, Kalina T. Characterization of
lymphocyte subsets in patients with common variable immunodeficiency reveals subsets of naive human B cells
marked by CD24 expression.J Immunol. 2010 Dec 1;185(11):6431-8.
Packwood K, Drewe E, Staples E, Webster D, Witte T, Litzman J, Egner W, Sargur R, Sewell W, LopezGranados E, Seneviratne SL, Powell RJ, Ferry BL, Chapel HM. NOD2 polymorphisms in clinical phenotypes of
common variable immunodeficiency disorders. Clin Exp Immunol. 2010 Sep;161(3):536-41
Chovancova Z, Vlkova M, Litzman J, Lokaj J, Thon V. Antibody forming cells and plasmablasts in peripheral
blood in CVID patients after vaccination. Vaccine 2011 May 31;29(24):4142-50.
Freiberger T, Grombiříková H, Ravčuková B, Jarkovský J, Kuklínek P, Kryštůfková O, Hanzlíková J, Daňková E,
Kopecký O, Zachová R, Lahodná M, Vašáková M, Grodecká L, Litzman J. No evidence for linkage between the
hereditary angiooedema clinical phenotype and the BDKR1, BDKR2, ACE or MBL2 gene. Scand J Immunol.
2011 Jul;74(1):100-6
Mudry P, Vavrina M, Mazanek P, Machalova M, Litzman J, Sterba J. Recurrent laryngeal papillomatosis:
successful treatment with human papillomavirus vaccination. Arch Dis Child. 2011 May;96(5):476-7.
Kreuzaler M, Rauch M, Salzer U, Birmelin J, Rizzi M, Grimbacher B, Plebani A, Lougaris V, Quinti I, Thon V,
Litzman J, Schlesier M, Warnatz K, Thiel J, Rolink AG, Eibel H. Soluble BAFF levels inversely correlate with
peripheral B cell numbers and the expression of BAFF receptors. J Immunol. 2012 Jan 1;188(1):497-503
Freiberger T, Ravčuková B, Grodecká L, Pikulová Z, Stikarovská D, Pešák S, Kuklínek P, Jarkovský J, Salzer U,
Litzman J. Sequence variants of the TNFRSF13B gene in Czech CVID and IgAD patients in the context of other
populations. Hum Immunol. 2012 Nov;73(11):1147-54:
Nechvatalova J, Pikulova Z, Stikarovska D, Pesak S, Vlkova M, Litzman J. B-lymphocyte subpopulations in
patients with selective IgA deficiency.J Clin Immunol. 2012 Jun;32(3):441-8
Wong GK, Goldacker S, Winterhalter C, Grimbacher B, Chapel H, Lucas M, Alecsandru D, McEwen D, Quinti I,
Martini H, Schmidt RE, Ernst D, Espanol T, Vidaller A, Carbone J, Fernandez-Cruz E, Lougaris V, Plebani A,
Kutukculer N, Gonzalez-Granado LI, Contreras R, Kiani-Alikhan S, Ibrahim MA, Litzman J, Jones A, Gaspar HB,
Hammarstrom L, Baumann U, Warnatz K, Huissoon AP; Clinical Working Party of the European Society for
Immunodeficiencies (ESID). Outcomes of splenectomy in patients with common variable immunodeficiency
(CVID): a survey of 45 patients. Clin Exp Immunol. 2013 Apr;172(1):63-72.
Soltész B, Tóth B, Shabashova N, Bondarenko A, Okada S, Cypowyj S, Abhyankar A, Csorba G, Taskó S,
Sarkadi AK, Méhes L, Rozsíval P, Neumann D, Chernyshova L, Tulassay Z, Puel A, Casanova JL, Sediva
A, Litzman J, Maródi L. New and recurrent gain-of-function STAT1 mutations in patients with chronic
mucocutaneous candidiasis from Eastern and Central Europe. J Med Genet. 2013 Sep;50(9):567-78
Kralickova P, Mala E, Vokurkova D, Krcmova I, Pliskova L, Stepanova V, Bartos V, Koblizek V, Tacheci I, Bures
J, Brozik J, Litzman J. Cytomegalovirus Disease in Patients with Common Variable Immunodeficiency: Three
Case Reports.Int Arch Allergy Immunol. 2013 Nov 16;163(1):69-74.
Gathmann B, Mahlaoui N; for CEREDIH, Gérard L, Oksenhendler E, Warnatz K, Schulze I, Kindle G, Kuijpers
TW; Dutch WID, van Beem RT, Guzman D, Workman S, Soler-Palacín P, De Gracia J, Witte T, Schmidt
RE, Litzman J, Hlavackova E, Thon V, Borte M, Borte S, Kumararatne D, Feighery C, Longhurst H, Helbert M,
Szaflarska A, Sediva A, Belohradsky BH, Jones A, Baumann U, Meyts I, Kutukculer N, Wågström P, Galal NM,
Roesler J, Farmaki E, Zinovieva N, Ciznar P, Papadopoulou-Alataki E, Bienemann K, Velbri S, Panahloo Z,
Grimbacher B; for the European Society for Immunodeficiencies Registry Working Party. Clinical picture and
treatment of 2212 patients with common variable immunodeficiency. J Allergy Clin Immunol. 2014 Jul;134(1):116126.
Marciano BE, Huang CY, Joshi G, Rezaei N, Carvalho BC, Allwood Z, Ikinciogullari A, Reda SM, Gennery
A, Thon V, Espinosa-Rosales F, Al-Herz W, Porras O, Shcherbina A, Szaflarska A, Kiliç Ş, Franco JL, Gómez
Raccio AC, Roxo P Jr, Esteves I, Galal N, Grumach AS, Al-Tamemi S, Yildiran A, Orellana JC, Yamada M, Morio
T, Liberatore D, Ohtsuka Y, Lau YL, Nishikomori R, Torres-Lozano C, Mazzucchelli JT, Vilela MM, Tavares FS,
Cunha L, Pinto JA, Espinosa-Padilla SE, Hernandez-Nieto L, Elfeky RA, Ariga T, Toshio H, Dogu F, Cipe F,
Formankova R, Nuñez-Nuñez ME, Bezrodnik L, Marques JG, Pereira MI, Listello V, Slatter MA, Nademi Z,
Kowalczyk D, Fleisher TA, Davies G, Neven B, Rosenzweig SD. BCG vaccination in patients with severe
combined immunodeficiency: complications, risks, and vaccination policies. J Allergy Clin Immunol. 2014
Apr;133(4):1134-41
Hel Z, Huijbregts RP, Xu J, Nechvatalova J, Vlkova M, Litzman J. Altered serum cytokine signature in common
variable immunodeficiency. J Clin Immunol. 2014 Nov;34(8):971-8.
Turley AJ, Gathmann B, Bangs C, Bradbury M, Seneviratne S, Gonzalez-Granado LI, Hackett S, Kutukculer N,
Alachkar H, Hambleton S, Ritterbusch H, Kralickova P, Marodi L, Seidel MG, Dueckers G, Roesler J, Huissoon A,
Baxendale H, Litzman J, Arkwright PD. Spectrum and management of complement immunodeficiencies
(excluding hereditary angioedema) across europe. J Clin Immunol. 2015 Feb;35(2):199-205
Wolf HM, Thon V, Litzman J, Eibl MM. Detection of impaired IgG antibody formation facilitates the decision on
early immunoglobulin replacement in hypogammaglobulinemic patients. Front Immunol. 2015 Feb 2;6:32.
Metzger ML, Michelfelder I, Goldacker S, Melkaoui K, Litzman J, Guzman D, Grimbacher B, Salzer U. Low ficolin2 levels in common variable immunodeficiency patients with bronchiectasis. Clin Exp Immunol. 2015
Feb;179(2):256-64.