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Items: 11

1.

Flow Cytometric Determination of Actin Polymerization in Peripheral Blood Leukocytes Effectively Discriminate Patients With Homozygous Mutation in ARPC1B From Asymptomatic Carriers and Normal Controls.

Kopitar AN, Markelj G, Oražem M, Blazina Š, Avčin T, Ihan A, Debeljak M.

Front Immunol. 2019 Jul 16;10:1632. doi: 10.3389/fimmu.2019.01632. eCollection 2019.

2.

Rezidivierende fulminante Myokarditis mit wiederholtem Einsatz der ECMO bei einem Kind.

Vercek G, Markelj G, Mlakar G, Primec ZR, Bertok S, Writzl K, Stefanija MA, Bajic S, Vesel S, Ihan A, Stritar A, Pokorn M, Kovac J, Debeljak M, Vidmar I, Avcin T, Grosek S.

Klin Padiatr. 2019 Mar;231(2):80-86. doi: 10.1055/a-0831-2593. Epub 2019 Mar 14. German.

PMID:
30870874
3.

Functional Complement Analysis Can Predict Genetic Testing Results and Long-Term Outcome in Patients With Complement Deficiencies.

Blazina Š, Debeljak M, Košnik M, Simčič S, Stopinšek S, Markelj G, Toplak N, Kopač P, Zakotnik B, Pokorn M, Avčin T.

Front Immunol. 2018 Mar 21;9:500. doi: 10.3389/fimmu.2018.00500. eCollection 2018.

4.

Autoimmune and Inflammatory Manifestations in 247 Patients with Primary Immunodeficiency-a Report from the Slovenian National Registry.

Blazina Š, Markelj G, Jeverica AK, Toplak N, Bratanič N, Jazbec J, Kopač P, Debeljak M, Ihan A, Avčin T.

J Clin Immunol. 2016 Nov;36(8):764-773. Epub 2016 Aug 31.

PMID:
27582173
5.

Clinical spectrum and features of activated phosphoinositide 3-kinase δ syndrome: A large patient cohort study.

Coulter TI, Chandra A, Bacon CM, Babar J, Curtis J, Screaton N, Goodlad JR, Farmer G, Steele CL, Leahy TR, Doffinger R, Baxendale H, Bernatoniene J, Edgar JD, Longhurst HJ, Ehl S, Speckmann C, Grimbacher B, Sediva A, Milota T, Faust SN, Williams AP, Hayman G, Kucuk ZY, Hague R, French P, Brooker R, Forsyth P, Herriot R, Cancrini C, Palma P, Ariganello P, Conlon N, Feighery C, Gavin PJ, Jones A, Imai K, Ibrahim MA, Markelj G, Abinun M, Rieux-Laucat F, Latour S, Pellier I, Fischer A, Touzot F, Casanova JL, Durandy A, Burns SO, Savic S, Kumararatne DS, Moshous D, Kracker S, Vanhaesebroeck B, Okkenhaug K, Picard C, Nejentsev S, Condliffe AM, Cant AJ.

J Allergy Clin Immunol. 2017 Feb;139(2):597-606.e4. doi: 10.1016/j.jaci.2016.06.021. Epub 2016 Jul 16.

6.

Management of Juvenile Idiopathic Arthritis: A Clinical Guide.

Blazina Š, Markelj G, Avramovič MZ, Toplak N, Avčin T.

Paediatr Drugs. 2016 Dec;18(6):397-412. Review.

PMID:
27484749
7.

Deficiency in Mucosa-associated Lymphoid Tissue Lymphoma Translocation 1: A Novel Cause of IPEX-Like Syndrome.

Charbit-Henrion F, Jeverica AK, Bègue B, Markelj G, Parlato M, Avčin SL, Callebaut I, Bras M, Parisot M, Jazbec J, Homan M, Ihan A, Rieux-Laucat F, Stolzenberg MC, Ruemmele FM, Avčin T, Cerf-Bensussan N; GENIUS Group.

J Pediatr Gastroenterol Nutr. 2017 Mar;64(3):378-384. doi: 10.1097/MPG.0000000000001262.

PMID:
27253662
8.

Phosphoinositide 3-kinase δ gene mutation predisposes to respiratory infection and airway damage.

Angulo I, Vadas O, Garçon F, Banham-Hall E, Plagnol V, Leahy TR, Baxendale H, Coulter T, Curtis J, Wu C, Blake-Palmer K, Perisic O, Smyth D, Maes M, Fiddler C, Juss J, Cilliers D, Markelj G, Chandra A, Farmer G, Kielkowska A, Clark J, Kracker S, Debré M, Picard C, Pellier I, Jabado N, Morris JA, Barcenas-Morales G, Fischer A, Stephens L, Hawkins P, Barrett JC, Abinun M, Clatworthy M, Durandy A, Doffinger R, Chilvers ER, Cant AJ, Kumararatne D, Okkenhaug K, Williams RL, Condliffe A, Nejentsev S.

Science. 2013 Nov 15;342(6160):866-71. doi: 10.1126/science.1243292. Epub 2013 Oct 17.

9.

Two episodes of systemic capillary leak syndrome in an 8-year-old boy, following influenza A virus infection.

Perme T, Pokorn M, Markelj G, Avčin T, Battelino T, Uršič T, Vidmar I, Grosek Š.

Pediatr Infect Dis J. 2014 Feb;33(2):222-4. doi: 10.1097/INF.0000000000000029.

PMID:
23995592
10.

Clinical and immunological manifestations of patients with atypical severe combined immunodeficiency.

Felgentreff K, Perez-Becker R, Speckmann C, Schwarz K, Kalwak K, Markelj G, Avcin T, Qasim W, Davies EG, Niehues T, Ehl S.

Clin Immunol. 2011 Oct;141(1):73-82. doi: 10.1016/j.clim.2011.05.007. Epub 2011 May 30. Review.

PMID:
21664875
11.

Estimation of antiphospholipid antibodies in a prospective longitudinal study of children with migraine.

Avcin T, Markelj G, Niksic V, Rener-Primec Z, Cucnik S, Zupancic M, Rozman B, Neubauer D.

Cephalalgia. 2004 Oct;24(10):831-7.

PMID:
15377313

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