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Items: 1 to 50 of 84

1.

Intravenous Artesunate for Imported Severe Malaria in Children Treated in Four Tertiary Care Centers in Germany: A Retrospective Study.

Bélard S, Brand J, Schulze-Sturm U, Janda A, von Both U, Tacoli C, Alberer M, Kempf C, Stegemann MS, Krüger R, Varnholt V, Blohm M, Reiter K, Zoller T, Suttorp N, Mall M, von Bernuth H, Gratopp A, Hübner J, Hufnagel M, Kobbe R, Kurth F.

Pediatr Infect Dis J. 2019 Nov;38(11):e295-e300. doi: 10.1097/INF.0000000000002417.

PMID:
31626041
2.

Severe infections of Panton-Valentine leukocidin positive Staphylococcus aureus in children.

Hoppe PA, Holzhauer S, Lala B, Bührer C, Gratopp A, Hanitsch LG, Humme D, Kieslich M, Kallinich T, Lau S, Leistner R, Niebank M, Pokrywka A, Ringe H, Schaper AS, Schröder JT, Schwarz C, Staab D, Stegemann MS, Thee S, Varnholt V, von Bernuth H, Weber-Carstens S, Wendt A, Krüger R.

Medicine (Baltimore). 2019 Sep;98(38):e17185. doi: 10.1097/MD.0000000000017185.

3.

The German National Registry of Primary Immunodeficiencies (2012-2017).

El-Helou SM, Biegner AK, Bode S, Ehl SR, Heeg M, Maccari ME, Ritterbusch H, Speckmann C, Rusch S, Scheible R, Warnatz K, Atschekzei F, Beider R, Ernst D, Gerschmann S, Jablonka A, Mielke G, Schmidt RE, Schürmann G, Sogkas G, Baumann UH, Klemann C, Viemann D, von Bernuth H, Krüger R, Hanitsch LG, Scheibenbogen CM, Wittke K, Albert MH, Eichinger A, Hauck F, Klein C, Rack-Hoch A, Sollinger FM, Avila A, Borte M, Borte S, Fasshauer M, Hauenherm A, Kellner N, Müller AH, Ülzen A, Bader P, Bakhtiar S, Lee JY, Heß U, Schubert R, Wölke S, Zielen S, Ghosh S, Laws HJ, Neubert J, Oommen PT, Hönig M, Schulz A, Steinmann S, Schwarz K, Dückers G, Lamers B, Langemeyer V, Niehues T, Shai S, Graf D, Müglich C, Schmalzing MT, Schwaneck EC, Tony HP, Dirks J, Haase G, Liese JG, Morbach H, Foell D, Hellige A, Wittkowski H, Masjosthusmann K, Mohr M, Geberzahn L, Hedrich CM, Müller C, Rösen-Wolff A, Roesler J, Zimmermann A, Behrends U, Rieber N, Schauer U, Handgretinger R, Holzer U, Henes J, Kanz L, Boesecke C, Rockstroh JK, Schwarze-Zander C, Wasmuth JC, Dilloo D, Hülsmann B, Schönberger S, Schreiber S, Zeuner R, Ankermann T, von Bismarck P, Huppertz HI, Kaiser-Labusch P, Greil J, Jakoby D, Kulozik AE, Metzler M, Naumann-Bartsch N, Sobik B, Graf N, Heine S, Kobbe R, Lehmberg K, Müller I, Herrmann F, Horneff G, Klein A, Peitz J, Schmidt N, Bielack S, Groß-Wieltsch U, Classen CF, Klasen J, Deutz P, Kamitz D, Lassay L, Tenbrock K, Wagner N, Bernbeck B, Brummel B, Lara-Villacanas E, Münstermann E, Schneider DT, Tietsch N, Westkemper M, Weiß M, Kramm C, Kühnle I, Kullmann S, Girschick H, Specker C, Vinnemeier-Laubenthal E, Haenicke H, Schulz C, Schweigerer L, Müller TG, Stiefel M, Belohradsky BH, Soetedjo V, Kindle G, Grimbacher B.

Front Immunol. 2019 Jul 19;10:1272. doi: 10.3389/fimmu.2019.01272. eCollection 2019.

4.

Impaired polysaccharide responsiveness without agammaglobulinemia in three patients with hypomorphic mutations in Bruton Tyrosine Kinase - no detection by newborn screening for primary immunodeficiences.

Krüger R, Baumann U, Borte S, Kölsch U, Lorenz MR, Keller B, Harder I, Warnatz K, Ehl S, Schwarz K, Wahn V, von Bernuth H.

Scand J Immunol. 2019 Aug 4:e12811. doi: 10.1111/sji.12811. [Epub ahead of print]

PMID:
31378960
5.

Screening and treatment for tuberculosis in a cohort of unaccompanied minor refugees in Berlin, Germany.

Thee S, Krüger R, von Bernuth H, Meisel C, Kölsch U, Kirchberger V, Feiterna-Sperling C.

PLoS One. 2019 May 21;14(5):e0216234. doi: 10.1371/journal.pone.0216234. eCollection 2019.

6.

Post-exposure prophylaxis for measles with immunoglobulins revised recommendations of the standing committee on vaccination in Germany.

Matysiak-Klose D, Santibanez S, Schwerdtfeger C, Koch J, von Bernuth H, Hengel H, Littmann M, Terhardt M, Wicker S, Mankertz A, Heininger U.

Vaccine. 2018 Dec 18;36(52):7916-7922. doi: 10.1016/j.vaccine.2018.10.070. Epub 2018 Nov 23. Review.

PMID:
30478003
7.

Periorbital infections and conjunctivitis due to Panton-Valentine Leukocidin (PVL) positive Staphylococcus aureus in children.

Hoppe PA, Hanitsch LG, Leistner R, Niebank M, Bührer C, von Bernuth H, Krüger R.

BMC Infect Dis. 2018 Aug 6;18(1):371. doi: 10.1186/s12879-018-3281-8.

8.

Incomplete penetrance for isolated congenital asplenia in humans with mutations in translated and untranslated RPSA exons.

Bolze A, Boisson B, Bosch B, Antipenko A, Bouaziz M, Sackstein P, Chaker-Margot M, Barlogis V, Briggs T, Colino E, Elmore AC, Fischer A, Genel F, Hewlett A, Jedidi M, Kelecic J, Krüger R, Ku CL, Kumararatne D, Lefevre-Utile A, Loughlin S, Mahlaoui N, Markus S, Garcia JM, Nizon M, Oleastro M, Pac M, Picard C, Pollard AJ, Rodriguez-Gallego C, Thomas C, Von Bernuth H, Worth A, Meyts I, Risolino M, Selleri L, Puel A, Klinge S, Abel L, Casanova JL.

Proc Natl Acad Sci U S A. 2018 Aug 21;115(34):E8007-E8016. doi: 10.1073/pnas.1805437115. Epub 2018 Aug 2.

9.

Scabies, Periorbital Cellulitis and Recurrent Skin Abscesses due to Panton-Valentine Leukocidin-Positive Staphylococcus aureus Mimic Hyper IgE Syndrome in an Infant.

Krüger R, Hanitsch LG, Leistner R, Schneider-Burrus S, Hoppe PA, Steinberg S, Hauck F, von Bernuth H.

Pediatr Infect Dis J. 2017 Dec;36(12):e347-e348. doi: 10.1097/INF.0000000000001788.

PMID:
28938255
10.

Antibiotic Prophylaxis, Immunoglobulin Substitution and Supportive Measures Prevent Infections in MECP2 Duplication Syndrome.

Bauer M, Krüger R, Kölsch U, Unterwalder N, Meisel C, Wahn V, von Bernuth H.

Pediatr Infect Dis J. 2018 May;37(5):466-468. doi: 10.1097/INF.0000000000001799.

PMID:
28938254
11.

Targeted Gene Panel Sequencing for Early-onset Inflammatory Bowel Disease and Chronic Diarrhea.

Petersen BS, August D, Abt R, Alddafari M, Atarod L, Baris S, Bhavsar H, Brinkert F, Buchta M, Bulashevska A, Chee R, Cordeiro AI, Dara N, Dückers G, Elmarsafy A, Frede N, Galal N, Gerner P, Glocker EO, Goldacker S, Hammermann J, Hasselblatt P, Havlicekova Z, Hübscher K, Jesenak M, Karaca NE, Karakoc-Aydiner E, Kharaghani MM, Kilic SS, Kiykim A, Klein C, Klemann C, Kobbe R, Kotlarz D, Laass MW, Leahy TR, Mesdaghi M, Mitton S, Neves JF, Öztürk B, Pereira LF, Rohr J, Restrepo JLR, Ruzaike G, Saleh N, Seneviratne S, Senol E, Speckmann C, Tegtmeyer D, Thankam P, van der Werff Ten Bosch J, von Bernuth H, Zeissig S, Zeissig Y, Franke A, Grimbacher B.

Inflamm Bowel Dis. 2017 Dec;23(12):2109-2120. doi: 10.1097/MIB.0000000000001235.

PMID:
28930861
12.

Life-threatening systemic rotavirus infection after vaccination in severe combined immunodeficiency (SCID).

Rosenfeld L, Mas Marques A, Niendorf S, Hofmann J, Gratopp A, Kühl JS, Schulte JH, von Bernuth H, Voigt S.

Pediatr Allergy Immunol. 2017 Dec;28(8):841-843. doi: 10.1111/pai.12771. Epub 2017 Oct 9. No abstract available.

PMID:
28815852
13.

Inborn errors in RNA polymerase III underlie severe varicella zoster virus infections.

Ogunjimi B, Zhang SY, Sørensen KB, Skipper KA, Carter-Timofte M, Kerner G, Luecke S, Prabakaran T, Cai Y, Meester J, Bartholomeus E, Bolar NA, Vandeweyer G, Claes C, Sillis Y, Lorenzo L, Fiorenza RA, Boucherit S, Dielman C, Heynderickx S, Elias G, Kurotova A, Auwera AV, Verstraete L, Lagae L, Verhelst H, Jansen A, Ramet J, Suls A, Smits E, Ceulemans B, Van Laer L, Plat Wilson G, Kreth J, Picard C, Von Bernuth H, Fluss J, Chabrier S, Abel L, Mortier G, Fribourg S, Mikkelsen JG, Casanova JL, Paludan SR, Mogensen TH.

J Clin Invest. 2017 Sep 1;127(9):3543-3556. doi: 10.1172/JCI92280. Epub 2017 Aug 7.

14.

Fatal case of ataxia-telangiectasia complicated by severe epistaxis due to nasal telangiectasia in a 12-year-old boy.

Krüger R, Zappe SM, Stölzel K, von Bernuth H, Wahn V, Knopke S.

Pediatr Allergy Immunol. 2017 Nov;28(7):711-712. doi: 10.1111/pai.12766. Epub 2017 Sep 8. No abstract available.

PMID:
28782291
15.

IgG subclass deficiencies in children: Facts and fiction.

Wahn V, von Bernuth H.

Pediatr Allergy Immunol. 2017 Sep;28(6):521-524. doi: 10.1111/pai.12757. Epub 2017 Aug 7. Review.

PMID:
28686792
16.

Persistent Skin Pouches Following Subcutaneous Immunoglobulin Infusions in a Girl with Immunodeficiency, Bullous Skin Lesions and Melanosis Oculi.

Krüger R, Feiterna-Sperling C, Blume-Peytavi U, Lala B, von Bernuth H, Wahn V.

J Clin Immunol. 2017 Aug;37(6):505-507. doi: 10.1007/s10875-017-0411-9. Epub 2017 Jun 17. No abstract available.

PMID:
28624913
17.

Postexposure prophylaxis with intravenous immunoglobulin G prevents infants from getting measles.

Lejeune A, Martin L, Santibanez S, Thee S, Gratopp A, Späth P, Mankertz A, Kallinich T, von Bernuth H.

Acta Paediatr. 2017 Jan;106(1):174-177. doi: 10.1111/apa.13634. No abstract available.

PMID:
27748542
18.

Hemolysis after Oral Artemisinin Combination Therapy for Uncomplicated Plasmodium falciparum Malaria.

Kurth F, Lingscheid T, Steiner F, Stegemann MS, Bélard S, Menner N, Pongratz P, Kim J, von Bernuth H, Mayer B, Damm G, Seehofer D, Salama A, Suttorp N, Zoller T.

Emerg Infect Dis. 2016 Aug;22(8):1381-6. doi: 10.3201/eid2208.151905.

19.

Correlation of Secretory Activity of Neutrophils With Genotype in Patients With Familial Mediterranean Fever.

Gohar F, Orak B, Kallinich T, Jeske M, Lieber M, von Bernuth H, Giese A, Weissbarth-Riedel E, Haas JP, Dressler F, Holzinger D, Lohse P, Neudorf U, Lainka E, Hinze C, Masjosthusmann K, Kessel C, Weinhage T, Foell D, Wittkowski H.

Arthritis Rheumatol. 2016 Dec;68(12):3010-3022. doi: 10.1002/art.39784.

20.

Fulminant Endophthalmitis in a Child Caused by Neisseria meningitidis Serogroup C Detected by Specific DNA.

Kallinich T, von Bernuth H, Kuhns M, Elias J, Bertelmann E, Pleyer U.

J Pediatric Infect Dis Soc. 2016 Jun;5(2):e13-6. doi: 10.1093/jpids/piw012. Epub 2016 Mar 21.

PMID:
27000867
21.

Mutations in AP3D1 associated with immunodeficiency and seizures define a new type of Hermansky-Pudlak syndrome.

Ammann S, Schulz A, Krägeloh-Mann I, Dieckmann NM, Niethammer K, Fuchs S, Eckl KM, Plank R, Werner R, Altmüller J, Thiele H, Nürnberg P, Bank J, Strauss A, von Bernuth H, Zur Stadt U, Grieve S, Griffiths GM, Lehmberg K, Hennies HC, Ehl S.

Blood. 2016 Feb 25;127(8):997-1006. doi: 10.1182/blood-2015-09-671636. Epub 2016 Jan 7.

PMID:
26744459
22.

Key findings to expedite the diagnosis of hyper-IgE syndromes in infants and young children.

Hagl B, Heinz V, Schlesinger A, Spielberger BD, Sawalle-Belohradsky J, Senn-Rauh M, Magg T, Boos AC, Hönig M, Schwarz K, Dückers G, von Bernuth H, Pache C, Karitnig-Weiss C, Belohradsky BH, Frank J, Niehues T, Wahn V, Albert MH, Wollenberg A, Jansson AF, Renner ED.

Pediatr Allergy Immunol. 2016 Mar;27(2):177-84. doi: 10.1111/pai.12512. Epub 2016 Jan 26.

PMID:
26592211
23.

Neutrophil oxidative burst activates ATM to regulate cytokine production and apoptosis.

Harbort CJ, Soeiro-Pereira PV, von Bernuth H, Kaindl AM, Costa-Carvalho BT, Condino-Neto A, Reichenbach J, Roesler J, Zychlinsky A, Amulic B.

Blood. 2015 Dec 24;126(26):2842-51. doi: 10.1182/blood-2015-05-645424. Epub 2015 Oct 21.

24.

Daily subcutaneous administration of human C1 inhibitor in a child with hereditary angioedema type 1.

Krüger R, Dahlinger N, Magerl M, von Bernuth H, Wahn V.

Pediatr Allergy Immunol. 2016 Mar;27(2):223-4. doi: 10.1111/pai.12495. Epub 2015 Nov 27. No abstract available.

PMID:
26467663
25.

Diagnostic and Treatment Options for Severe IBD in Female X-CGD Carriers with Non-random X-inactivation.

Hauck F, Koletzko S, Walz C, von Bernuth H, Klenk A, Schmid I, Belohradsky BH, Klein C, Bufler P, Albert MH.

J Crohns Colitis. 2016 Jan;10(1):112-5. doi: 10.1093/ecco-jcc/jjv186. Epub 2015 Oct 13.

PMID:
26464403
26.

Septic arthritis or juvenile idiopathic arthritis--the case of a 2 year old boy.

Kallinich T, Kölsch U, Lieber M, Unterwalder N, Spors B, Lorenz M, Schwarz K, Meisel C, von Bernuth H.

Pediatr Allergy Immunol. 2015 Jun;26(4):389-91. doi: 10.1111/pai.12373. Epub 2015 Apr 24. No abstract available.

PMID:
25865658
27.

Outcomes of mismatched and unrelated donor hematopoietic stem cell transplantation in Fanconi anemia conditioned with chemotherapy only.

Chao MM, Kuehl JS, Strauss G, Hanenberg H, Schindler D, Neitzel H, Niemeyer C, Baumann I, von Bernuth H, Rascon J, Nagy M, Zimmermann M, Kratz CP, Ebell W.

Ann Hematol. 2015 Aug;94(8):1311-8. doi: 10.1007/s00277-015-2370-7. Epub 2015 Apr 12.

PMID:
25862235
28.

Neutrophils: Between host defence, immune modulation, and tissue injury.

Kruger P, Saffarzadeh M, Weber AN, Rieber N, Radsak M, von Bernuth H, Benarafa C, Roos D, Skokowa J, Hartl D.

PLoS Pathog. 2015 Mar 12;11(3):e1004651. doi: 10.1371/journal.ppat.1004651. eCollection 2015 Mar. Review.

29.

Infectious and immunologic phenotype of MECP2 duplication syndrome.

Bauer M, Kölsch U, Krüger R, Unterwalder N, Hameister K, Kaiser FM, Vignoli A, Rossi R, Botella MP, Budisteanu M, Rosello M, Orellana C, Tejada MI, Papuc SM, Patat O, Julia S, Touraine R, Gomes T, Wenner K, Xu X, Afenjar A, Toutain A, Philip N, Jezela-Stanek A, Gortner L, Martinez F, Echenne B, Wahn V, Meisel C, Wieczorek D, El-Chehadeh S, Van Esch H, von Bernuth H.

J Clin Immunol. 2015 Feb;35(2):168-81. doi: 10.1007/s10875-015-0129-5. Epub 2015 Feb 27.

PMID:
25721700
30.

A narrow repertoire of transcriptional modules responsive to pyogenic bacteria is impaired in patients carrying loss-of-function mutations in MYD88 or IRAK4.

Alsina L, Israelsson E, Altman MC, Dang KK, Ghandil P, Israel L, von Bernuth H, Baldwin N, Qin H, Jin Z, Banchereau R, Anguiano E, Ionan A, Abel L, Puel A, Picard C, Pascual V, Casanova JL, Chaussabel D.

Nat Immunol. 2014 Dec;15(12):1134-42. doi: 10.1038/ni.3028. Epub 2014 Oct 26.

31.

Combined immunodeficiency develops with age in Immunodeficiency-centromeric instability-facial anomalies syndrome 2 (ICF2).

von Bernuth H, Ravindran E, Du H, Fröhler S, Strehl K, Krämer N, Issa-Jahns L, Amulic B, Ninnemann O, Xiao MS, Eirich K, Kölsch U, Hauptmann K, John R, Schindler D, Wahn V, Chen W, Kaindl AM.

Orphanet J Rare Dis. 2014 Oct 21;9:116. doi: 10.1186/s13023-014-0116-6.

32.

Persistent pure red cell aplasia in dicygotic twins with persistent congenital parvovirus B19 infection-remission following high dose intravenous immunoglobulin.

Lejeune A, Cremer M, von Bernuth H, Edelmann A, Modrow S, Bührer C.

Eur J Pediatr. 2014 Dec;173(12):1723-6. doi: 10.1007/s00431-014-2420-5. Epub 2014 Oct 2.

PMID:
25269997
33.

Classification of common variable immunodeficiencies using flow cytometry and a memory B-cell functionality assay.

Rösel AL, Scheibenbogen C, Schliesser U, Sollwedel A, Hoffmeister B, Hanitsch L, von Bernuth H, Krüger R, Warnatz K, Volk HD, Thomas S.

J Allergy Clin Immunol. 2015 Jan;135(1):198-208. doi: 10.1016/j.jaci.2014.06.022. Epub 2014 Aug 10.

PMID:
25112698
34.

Liver abscess complicated by diaphragm perforation and pleural empyema leads to the discovery of interleukin-1 receptor-associated kinase 4 deficiency.

Schöndorf D, von Bernuth H, Simon A, Schneider G, Kölsch U, Schwarz K, Meier CM, Groe-Onnebrink J, Gortner L, Rohrer TR.

Pediatr Infect Dis J. 2014 Jul;33(7):767-9. doi: 10.1097/INF.0000000000000277.

PMID:
24717963
35.

Diagnostic approach to microcephaly in childhood: a two-center study and review of the literature.

von der Hagen M, Pivarcsi M, Liebe J, von Bernuth H, Didonato N, Hennermann JB, Bührer C, Wieczorek D, Kaindl AM.

Dev Med Child Neurol. 2014 Aug;56(8):732-41. doi: 10.1111/dmcn.12425. Epub 2014 Mar 12. Review.

36.

Systemic treatment with isotretinoin suppresses itraconazole blood level in chronic granulomatous disease.

von Bernuth H, Wahn V.

Pediatr Allergy Immunol. 2014 Jun;25(4):405-7. doi: 10.1111/pai.12181. Epub 2014 Jan 3. No abstract available.

PMID:
24383787
37.

X-linked inhibitor of apoptosis (XIAP) deficiency: the spectrum of presenting manifestations beyond hemophagocytic lymphohistiocytosis.

Speckmann C, Lehmberg K, Albert MH, Damgaard RB, Fritsch M, Gyrd-Hansen M, Rensing-Ehl A, Vraetz T, Grimbacher B, Salzer U, Fuchs I, Ufheil H, Belohradsky BH, Hassan A, Cale CM, Elawad M, Strahm B, Schibli S, Lauten M, Kohl M, Meerpohl JJ, Rodeck B, Kolb R, Eberl W, Soerensen J, von Bernuth H, Lorenz M, Schwarz K, Zur Stadt U, Ehl S.

Clin Immunol. 2013 Oct;149(1):133-41. doi: 10.1016/j.clim.2013.07.004. Epub 2013 Jul 31.

PMID:
23973892
38.

Even in pneumococcal sepsis CD62L shedding on granulocytes proves to be a reliable functional test for the diagnosis of interleukin-1 receptor-associated kinase-4 deficiency.

Andres O, Strehl K, Kölsch U, Kunzmann S, Lebrun AH, Stroh T, Schwarz K, Morbach H, von Bernuth H, Liese J.

Pediatr Infect Dis J. 2013 Sep;32(9):1017-9. doi: 10.1097/INF.0b013e318292bf8c. Erratum in: Pediatr Infect Dis J. 2013 Nov;32(11):1302. Liefse, Johannes [corrected to Liese, Johannes].

PMID:
23538514
39.

Experimental and natural infections in MyD88- and IRAK-4-deficient mice and humans.

von Bernuth H, Picard C, Puel A, Casanova JL.

Eur J Immunol. 2012 Dec;42(12):3126-35. doi: 10.1002/eji.201242683. Review.

40.

[Interdisciplinary AWMF guideline for the diagnostics of primary immunodeficiency].

Farmand S, Baumann U, von Bernuth H, Borte M, Foerster-Waldl E, Franke K, Habermehl P, Kapaun P, Klock G, Liese J, Marks R, Müller R, Nebe T, Niehues T, Schuster V, Warnatz K, Witte T, Ehl S, Schulze I; Association of the Scientific Medical Societies in Germany (AWMF).

Klin Padiatr. 2011 Nov;223(6):378-85. doi: 10.1055/s-0031-1287835. Epub 2011 Nov 3. German.

PMID:
22052638
41.

Hyperbilirubinemia and rapid fatal hepatic failure in severe combined immunodeficiency caused by adenosine deaminase deficiency (ADA-SCID).

Kühl JS, Schwarz K, Münch A, Schmugge M, Pekrun A, Meisel C, Wahn V, Ebell W, von Bernuth H.

Klin Padiatr. 2011 Mar;223(2):85-9. doi: 10.1055/s-0030-1269916. Epub 2011 Jan 26.

PMID:
21271505
42.

Clinical features and outcome of patients with IRAK-4 and MyD88 deficiency.

Picard C, von Bernuth H, Ghandil P, Chrabieh M, Levy O, Arkwright PD, McDonald D, Geha RS, Takada H, Krause JC, Creech CB, Ku CL, Ehl S, Maródi L, Al-Muhsen S, Al-Hajjar S, Al-Ghonaium A, Day-Good NK, Holland SM, Gallin JI, Chapel H, Speert DP, Rodriguez-Gallego C, Colino E, Garty BZ, Roifman C, Hara T, Yoshikawa H, Nonoyama S, Domachowske J, Issekutz AC, Tang M, Smart J, Zitnik SE, Hoarau C, Kumararatne DS, Thrasher AJ, Davies EG, Bethune C, Sirvent N, de Ricaud D, Camcioglu Y, Vasconcelos J, Guedes M, Vitor AB, Rodrigo C, Almazán F, Méndez M, Aróstegui JI, Alsina L, Fortuny C, Reichenbach J, Verbsky JW, Bossuyt X, Doffinger R, Abel L, Puel A, Casanova JL.

Medicine (Baltimore). 2010 Nov;89(6):403-25. doi: 10.1097/MD.0b013e3181fd8ec3.

43.

Delayed onset of (severe) combined immunodeficiency (S)CID (T-B+NK+): complete IL-7 receptor deficiency in a 22 months old girl.

Rossberg S, Schwarz K, Meisel C, Holzhauer S, Kühl J, Ebell W, Wahn V, von Bernuth H.

Klin Padiatr. 2009 Nov-Dec;221(6):339-43. doi: 10.1055/s-0029-1239537. Epub 2009 Nov 4.

PMID:
19890784
44.

IRAK-4- and MyD88-dependent pathways are essential for the removal of developing autoreactive B cells in humans.

Isnardi I, Ng YS, Srdanovic I, Motaghedi R, Rudchenko S, von Bernuth H, Zhang SY, Puel A, Jouanguy E, Picard C, Garty BZ, Camcioglu Y, Doffinger R, Kumararatne D, Davies G, Gallin JI, Haraguchi S, Day NK, Casanova JL, Meffre E.

Immunity. 2008 Nov 14;29(5):746-57. doi: 10.1016/j.immuni.2008.09.015.

45.

Pyogenic bacterial infections in humans with MyD88 deficiency.

von Bernuth H, Picard C, Jin Z, Pankla R, Xiao H, Ku CL, Chrabieh M, Mustapha IB, Ghandil P, Camcioglu Y, Vasconcelos J, Sirvent N, Guedes M, Vitor AB, Herrero-Mata MJ, Aróstegui JI, Rodrigo C, Alsina L, Ruiz-Ortiz E, Juan M, Fortuny C, Yagüe J, Antón J, Pascal M, Chang HH, Janniere L, Rose Y, Garty BZ, Chapel H, Issekutz A, Maródi L, Rodriguez-Gallego C, Banchereau J, Abel L, Li X, Chaussabel D, Puel A, Casanova JL.

Science. 2008 Aug 1;321(5889):691-6. doi: 10.1126/science.1158298.

46.

Mutations in STAT3 and IL12RB1 impair the development of human IL-17-producing T cells.

de Beaucoudrey L, Puel A, Filipe-Santos O, Cobat A, Ghandil P, Chrabieh M, Feinberg J, von Bernuth H, Samarina A, Jannière L, Fieschi C, Stéphan JL, Boileau C, Lyonnet S, Jondeau G, Cormier-Daire V, Le Merrer M, Hoarau C, Lebranchu Y, Lortholary O, Chandesris MO, Tron F, Gambineri E, Bianchi L, Rodriguez-Gallego C, Zitnik SE, Vasconcelos J, Guedes M, Vitor AB, Marodi L, Chapel H, Reid B, Roifman C, Nadal D, Reichenbach J, Caragol I, Garty BZ, Dogu F, Camcioglu Y, Gülle S, Sanal O, Fischer A, Abel L, Stockinger B, Picard C, Casanova JL.

J Exp Med. 2008 Jul 7;205(7):1543-50. doi: 10.1084/jem.20080321.

47.

From infectious diseases to primary immunodeficiencies.

Bustamante J, Zhang SY, von Bernuth H, Abel L, Casanova JL.

Immunol Allergy Clin North Am. 2008 May;28(2):235-58, vii. doi: 10.1016/j.iac.2008.01.009. Review.

PMID:
18424331
48.

Staphylococcal pericarditis, and liver and paratracheal abscesses as presentations in two new cases of interleukin-1 receptor associated kinase 4 deficiency.

Comeau JL, Lin TJ, Macken MB, Li B, Ku CL, von Bernuth H, Casanova JL, Issekutz AC.

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PMID:
18174872
49.

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PMID:
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50.

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PMID:
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