PGM3 insufficiency: a glycosylation disorder causing a notable T cell defect
Yang L, Zerbato B, Pessina A, Brambilla L, Andreani V, Frey-Jakobs S, Fliegauf M, Barbouche MR, Zhang Q, Chiaradonna F, Proietti M, Du X, Grimbacher B.
Front Immunol. 2024 Dec 24;15:1500381.
Impact Factor: 5.700

Telomere biology disorders may manifest as common variable immunodeficiency (CVID)
Rolles B, Caballero-Oteyza A, Proietti M, Goldacker S, Warnatz K, Camacho-Ordonez N, Prader S, Schmid JP, Vieri M, Isfort S, Meyer R, Kirschner M, Brümmendorf TH, Beier F, Grimbacher B.
Clin Immunol. 2023 Dec;257:109837.
Impact Factor: 8.600

Future Directions in the Diagnosis and Treatment of APDS and IEI: a Survey of German IEI Centers
Vanselow S, Hanitsch L, Hauck F, Körholz J, Maccari ME, Meinhardt A, Sogkas G, Schuetz C, Grimbacher B.
Front Immunol. 2023 Oct 5;14:1279652.
Impact Factor: 7.300

Next generation sequencing (NGS)-based approach to diagnosing Algerian patients with suspected inborn errors of immunity (IEIs)
Peng XP, Al-Ddafari MS, Caballero-Oteyza A, El Mezouar C, Mrovecova P, Dib SE, Massen Z, Smahi MC, Faiza A, Hassaïne RT, Lefranc G, Aribi M, Grimbacher B.
Clin Immunol. 2023 Sep 9;256:109758. Online ahead of print.
Impact Factor: 8.600

The GAIN Registry – a New Prospective Study for Patients with Multi-organ Autoimmunity and Autoinflammation
Staus P, Rusch S, El-Helou S, Müller G, Krausz M, Geisen U, Caballero-Oteyza A, Krüger R, Bakhtiar S, Lee-Kirsch MA, Fasshauer M, Baumann U, Hoyer BF, Farela Neves J, Borte M, Carrabba M, Hauck F, Ehl S, Bader P, von Bernuth H, Atschekzei F, Seppänen MRJ, Warnatz K, Nieters A, Kindle G, Grimbacher B.
J Clin Immunol. 2023 Aug;43(6):1289-1301.
Impact Factor: 8.137

Sequencing the B Cell Receptor Repertoires of Antibody-Deficient Individuals With and Without Infection Susceptibility
Lim YW, Ramirez NJ, Asensio MA, Chiang Y, Müller G, Mrovecova P, Mitsuiki N, Krausz M, Camacho-Ordonez N, Warnatz K, Adler AS, Grimbacher B.
J Clin Immunol. 2023 Jul;43(5):940-950.
Impact Factor: 8.137

Do common infections trigger disease-onset or -severity in CTLA-4 insufficiency?
Krausz M, Mitsuiki N, Falcone V, Komp J, Posadas-Cantera S, Lorenz HM, Litzman J, Wolff D, Kanariou M, Heinkele A, Speckmann C, Häcker G, Hengel H, Gámez-Díaz L, Grimbacher B.
Front Immunol. 2022 Nov 2;13:1011646.
Impact Factor: 7.300

The ABACHAI clinical trial protocol: Safety and efficacy of abatacept (s.c.) in patients with CTLA-4 insufficiency or LRBA deficiency: A non controlled phase 2 clinical trial
Krausz M, Uhlmann A, Rump IC, Ihorst G, Goldacker S, Sogkas G, Posadas-Cantera S, Schmidt R, Feißt M, Alsina L, Dybedal I, Recher M, Warnatz K, Grimbacher B.
Contemp Clin Trials Commun. 2022 Sep 24;30:101008.
Impact Factor: 1.653

Detrimental NFKB1 missense variants affecting the Rel-homology domain of p105/p50
Fliegauf M, Kinnunen M, Posadas-Cantera S, Camacho-Ordonez N, Abolhassani H, Alsina L, Atschekzei F, Bogaert DJ, Burns SO, Church JA, Dückers G, Freeman AF, Hammarström L, Hanitsch LG, Kerre T, Kobbe R, Sharapova SO, Siepermann K, Speckmann C, Steiner S, Verma N, Walter JE, Westermann-Clark E, Goldacker S, Warnatz K, Varjosalo M, Grimbacher B.
Front Immunol. 2022 Aug 29;13:965326.
Impact Factor: 7.300

Multi-omics analysis of naïve B cells of patients harboring the C104R mutation in TACI
Ramirez N, Posadas-Cantera S, Langer N, de Oteyza ACG, Proietti M, Keller B, Zhao F, Gernedl V, Pecoraro M, Eibel H, Warnatz K, Ballestar E, Geiger R, Bossen C, Grimbacher B.
Front Immunol. 2022 Aug 16;13:938240.
Impact Factor: 7.300

Establishing the Molecular Diagnoses in a Cohort of 291 Patients With Predominantly Antibody Deficiency by Targeted Next-Generation Sequencing: Experience From a Monocentric Study
Rojas-Restrepo J, Caballero-Oteyza A, Huebscher K, Haberstroh H, Fliegauf M, Keller B, Kobbe R, Warnatz K, Ehl S, Proietti M, Grimbacher B.
Front Immunol. 2021 Dec 17;12:786516.
Impact Factor: 6.429

Bowel Histology of CVID Patients Reveals Distinct Patterns of Mucosal Inflammation
van Schewick CM, Lowe DM, Burns SO, Workman S, Symes A, Guzman D, Moreira F, Watkins J, Clark I, Grimbacher B.
J Clin Immunol. 2021 Oct 1. Online ahead of print.
Impact Factor: 6.780

Genetic Analysis of a Cohort of 275 Patients with Hyper-IgE Syndromes and/or Chronic Mucocutaneous Candidiasis
Frede N, Rojas-Restrepo J, Caballero Garcia de Oteyza A, Buchta M, Hübscher K, Gámez-Díaz L, Proietti M, Saghafi S, Chavoshzadeh Z, Soler-Palacin P, Galal N, Adeli M, Aldave-Becerra JC, Al-Ddafari MS, Ardenyz Ö, Atkinson TP, Kut FB, Çelmeli F, Rees H, Kilic SS, Kirovski I, Klein C, Kobbe R, Korganow AS, Lilic D, Lunt P, Makwana N, Metin A, Özgür TT, Karakas AA, Seneviratne S, Sherkat R, Sousa AB, Unal E, Patiroglu T, Wahn V, von Bernuth H, Whiteford M, Doffinger R, Jouhadi Z, Grimbacher B.
J Clin Immunol. 2021 Nov;41(8):1804-1838.
Impact Factor: 6.780

Therapeutic options for CTLA-4 insufficiency
Egg D, Rump IC, Mitsuiki N, Rojas-Restrepo J, Maccari ME, Schwab C, Gabrysch A, Warnatz K, Goldacker S, Patiño V, Wolff D, Okada S, Hayakawa S, Shikama Y, Kanda K, Imai K, Sotomatsu M, Kuwashima M, Kamiya T, Morio T, Matsumoto K, Mori T, Yoshimoto Y, Dybedal I, Kanariou M, Kucuk ZY, Chapdelaine H, Petruzelkova L, Lorenz HM, Sullivan KE, Heimall J, Moutschen M, Litzman J, Recher M, Albert MH, Hauck F, Seneviratne S, Pachlopnik Schmid J, Kolios A, Unglik G, Klemann C, Snapper S, Giulino-Roth L, Svaton M, Platt CD, Hambleton S, Neth O, Gosse G, Reinsch S, Holzinger D, Kim YJ, Bakhtiar S, Atschekzei F, Schmidt R, Sogkas G, Chandrakasan S, Rae W, Derfalvi B, Marquart HV, Ozen A, Kiykim A, Karakoc-Aydiner E, Králíčková P, de Bree G, Kiritsi D, Seidel MG, Kobbe R, Dantzer J, Alsina L, Armangue T, Lougaris V, Agyeman P, Nyström S, Buchbinder D, Arkwright PD, Grimbacher B.
J Allergy Clin Immunol. 2021 Jun 7:S0091-6749(21)00891-5.
Impact Factor: 10.793

A Pathogenic Missense Variant in NFKB1 Causes Common Variable Immunodeficiency Due to Detrimental Protein Damage
Fliegauf M, Krüger R, Steiner S, Hanitsch LG, Büchel S, Wahn V, von Bernuth H, Grimbacher B.
Front Immunol. 2021 Apr 27;12:621503. doi: 10.3389/fimmu.2021.621503.
Impact Factor: 6.429

Altered Microbiota, Impaired Quality of Life, Malabsorption, Infection, and Inflammation in CVID Patients With Diarrhoea
van Schewick CM, Nöltner C, Abel S, Burns SO, Workman S, Symes A, Guzman D, Proietti M, Bulashevska A, Moreira F, Soetedjo V, Lowe DM, Grimbacher B.
Front Immunol. 2020 Jul 31;11:1654.
Impact Factor: 6.429

Characterization of the clinical and immunological phenotype and management of 157 individuals with 56 distinct heterozygous NFKB1 mutations
Lorenzini T, Fliegauf M, Klammer N, Frede N, Proietti M, Bulashevska A, Camacho-Ordonez N, Varjosalo M, Kinnunen M, de Vries E, van der Meer JWM, Ameratunga R, Roifman CM, Schejter YD, Kobbe R, Hautala T, Atschekzei F, Schmidt RE, Schröder C, Stepensky P, Shadur B, Pedroza LA, van der Flier M, Martínez-Gallo M, Gonzalez-Granado LI, Allende LM, Shcherbina A, Kuzmenko N, Zakharova V, Neves JF, Svec P, Fischer U, Ip W, Bartsch O, Barış S, Klein C, Geha R, Chou J, Alosaimi M, Weintraub L, Boztug K, Hirschmugl T, Dos Santos Vilela MM, Holzinger D, Seidl M, Lougaris V, Plebani A, Alsina L, Piquer-Gibert M, Deyà-Martínez A, Slade CA, Aghamohammadi A, Abolhassani H, Hammarström L, Kuismin O, Helminen M, Allen HL, Thaventhiran JE, Freeman AF, Cook M, Bakhtiar S, Christiansen M, Cunningham-Rundles C, Patel NC, Rae W, Niehues T, Brauer N, Syrjänen J, Seppänen MRJ, Burns SO, Tuijnenburg P, Kuijpers TW; NIHR-BioResource – Rare Diseases Consortium, Warnatz K, Grimbacher B.
J Allergy Clin Immunol. 2020 Apr 9.
Impact Factor: 10.793

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
Impact Factor: 5.511

Assessing the Functional Relevance of Variants in the IKAROS Family Zinc Finger Protein 1(IKZF1) in a Cohort of Patients With Primary Immunodeficiency
Eskandarian Z, Fliegauf M, Bulashevska A, Proietti M, Hague R, Smulski CR, Schubert D, Warnatz K, Grimbacher B.
Front Immunol. 2019 Apr 16
Impact Factor: 5.511

Clinical and Immunological Phenotype of Patients With Primary Immunodeficiency Due to Damaging Mutations in NFKB2
Klemann C, Camacho-Ordonez N, Yang L, Eskandarian Z, Rojas-Restrepo JL, Frede N, Bulashevska A, Heeg M, Al-Ddafari MS, Premm J, Seidl M, Ammann S, Sherkat R, Radhakrishnan N, Warnatz K, Unger S, Kobbe R, Hüfner A, Leahy TR, Ip W, Burns SO, Fliegauf M, Grimbacher B.
Front Immunol. 2019 Mar 19
Impact Factor: 5.511

Increased Risk for Malignancies in 131 Affected CTLA4 Mutation Carriers
Egg D, Schwab C, Gabrysch A, Arkwright PD, Cheesman E, Giulino-Roth L, Neth O, Snapper S, Okada S, Moutschen M, Delvenne P, Pecher AC, Wolff D, Kim YJ, Seneviratne S, Kim KM, Kang JM, Ojaimi S, McLean C, Warnatz K, Seidl M, Grimbacher B.
Front Immunol. 2018 Sep 10
Impact Factor: 5.511

Is It Safe to Switch From Intravenous Immunoglobulin to Subcutaneous Immunoglobulin in Patients With Common Variable Immunodeficiency and Autoimmune Thrombocytopenia?
Scheuerlein P, Pietsch L, Camacho-Ordonez N, Reiser V, Patel S, Burns SO, Warnatz K, Grimbacher B.
Front Immunol. 2018 Jul 19;9:1656.
Impact Factor: 5.511

ZNF341 controls STAT3 expression and thereby immunocompetence
Frey-Jakobs S, Hartberger JM, Fliegauf M, Bossen C, Wehmeyer ML, Neubauer JC, Bulashevska A, Proietti M, Fröbel P, Nöltner C, Yang L, Rojas-Restrepo J, Langer N, Winzer S, Engelhardt KR, Glocker C, Pfeifer D, Klein A, Schäffer AA, Lagovsky I, Lachover-Roth I, Béziat V, Puel A, Casanova JL, Fleckenstein B, Weidinger S, Kilic SS, Garty BZ, Etzioni A, Grimbacher B.
Sci Immunol. 2018 Jun 15;3(24).
Impact Factor: 10.551

Rapid Flow Cytometry-Based Test for the Diagnosis of Lipopolysaccharide Responsive Beige-Like Anchor (LRBA) Deficiency
Gámez-Díaz L, Sigmund EC, Reiser V, Vach W, Jung S, Grimbacher B.
Front Immunol. 2018 Apr 23;9:720.
Impact factor: 6.429

Phenotype, penetrance, and treatment of 133 cytotoxic T-lymphocyte antigen 4-insufficient subjects
Schwab C, Gabrysch A, Olbrich P, Patiño V, Warnatz K, Wolff D, Hoshino A, Kobayashi M, Imai K, Takagi M, Dybedal I, Haddock JA, Sansom DM, Lucena JM, Seidl M, Schmitt-Graeff A, Reiser V, Emmerich F, Frede N, Bulashevska A, Salzer U, Schubert D, Hayakawa S, Okada S, Kanariou M, Kucuk ZY, Chapdelaine H, Petruzelkova L, Sumnik Z, Sediva A, Slatter M, Arkwright PD, Cant A, Lorenz HM, Giese T, Lougaris V, Plebani A, Price C, Sullivan KE, Moutschen M, Litzman J, Freiberger T, van de Veerdonk FL, Recher M, Albert MH, Hauck F, Seneviratne S, Pachlopnik Schmid J, Kolios A, Unglik G, Klemann C, Speckmann C, Ehl S, Leichtner A, Blumberg R, Franke A, Snapper S, Zeissig S, Cunningham-Rundles C, Giulino-Roth L, Elemento O, Dückers G, Niehues T, Fronkova E, Kanderová V, Platt CD, Chou J, Chatila TA, Geha R, McDermott E, Bunn S, Kurzai M, Schulz A, Alsina L, Casals F, Deyà-Martinez A, Hambleton S, Kanegane H, Taskén K, Neth O, Grimbacher B.
J Allergy Clin Immunol. 2018 May 4.
Impact Factor: 13.081

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.
Impact Factor: 4.525

14 Years after Discovery: Clinical Follow-up on 15 Patients with Inducible Co-Stimulator Deficiency
Schepp J, Chou J, Skrabl-Baumgartner A, Arkwright PD, Engelhardt KR, Hambleton S, Morio T, Röther E, Warnatz K, Geha R, Grimbacher B.
Front Immunol. 2017 Aug 16;8:964.
Impact Factor: 6.429

Plasma cell deficiency in human subjects with heterozygous mutations in Sec61 translocon alpha 1 subunit (SEC61A1)
Schubert D, Klein MC, Hassdenteufel S, Caballero-Oteyza A, Yang L, Proietti M, Bulashevska A, Kemming J, Kühn J, Winzer S, Rusch S, Fliegauf M, Schäffer AA, Pfeffer S, Geiger R, Cavalié A, Cao H, Yang F, Li Y, Rizzi M, Eibel H, Kobbe R, Marks AL, Peppers BP, Hostoffer RW, Puck JM, Zimmermann R, Grimbacher B.
J Allergy Clin Immunol. 2017 Aug 4
Impact Factor: 13.081

Autoantibodies against BAFF, APRIL or IL21 – an alternative pathogenesis for antibody-deficiencies?
Pott MC, Frede N, Wanders J, Hammarström L, Glocker EO, Glocker C, Tahami F, Grimbacher B.
BMC Immunol. 2017 Jun 26;18(1):34.
Impact Factor: 2.485

Screening of 181 Patients With Antibody Deficiency for Deficiency of Adenosine Deaminase 2 Sheds New Light on the Disease in Adulthood
Schepp J, Proietti M, Frede N, Buchta M, Hübscher K, Rojas Restrepo J, Goldacker S, Warnatz K, Pachlopnik Schmid J, Duppenthaler A, Lougaris V, Uriarte I, Kelly S, Hershfield M, Grimbacher B.
Arthritis Rheumatol. 2017 Aug;69(8):1689-1700. Epub 2017 Jul 5.
Impact Factor: 6.918

Deficiency of Adenosine Deaminase 2 Causes Antibody Deficiency
Schepp J, Bulashevska A, Mannhardt-Laakmann W, Cao H, Yang F, Seidl M, Kelly S, Hershfield M, Grimbacher B.
J Clin Immunol. 2016 Apr;36(3):179-86. Epub 2016 Feb 27.
Impact factor: 3.184

The extended phenotype of LPS-responsive beige-like anchor protein (LRBA) deficiency
Gámez-Díaz L, August D, Stepensky P, Revel-Vilk S, Seidel MG, Noriko M, Morio T, Worth AJ, Blessing J, Van de Veerdonk F, Feuchtinger T, Kanariou M, Schmitt-Graeff A, Jung S, Seneviratne S, Burns S, Belohradsky BH, Rezaei N, Bakhtiar S, Speckmann C, Jordan M, Grimbacher B.
J Allergy Clin Immunol. 2016 Jan;137(1):223-230.
Impact Factor: 11.476

Successful Granulocyte Colony Stimulating Factor Treatment of Relapsing Candida albicans Meningoencephalitis Caused by CARD9 Deficiency
Celmeli F, Oztoprak N, Turkkahraman D, Seyman D, Mutlu E, Frede N, Köksoy S, Grimbacher B.
Pediatr Infect Dis J. 2016 Apr;35(4):428-31.
Impact Factor: 2.723

The Extended Clinical Phenotype of 26 Patients with Chronic Mucocutaneous Candidiasis due to Gain-of-Function Mutations in STAT1
Depner M, Fuchs S, Raabe J, Frede N, Glocker C, Doffinger R, Gkrania-Klotsas E, Kumararatne D, Atkinson TP, Schroeder HW Jr, Niehues T, Dückers G, Stray-Pedersen A, Baumann U, Schmidt R, Franco JL, Orrego J, Ben-Shoshan M, McCusker C, Jacob CM, Carneiro-Sampaio M, Devlin LA, Edgar JD, Henderson P, Russell RK, Skytte AB, Seneviratne SL, Wanders J, Stauss H, Meyts I, Moens L, Jesenak M, Kobbe R, Borte S, Borte M, Wright DA, Hagin D, Torgerson TR, Grimbacher B.
J Clin Immunol. 2016 Jan;36(1):73-84. Epub 2015 Nov 25.
Impact Factor: 2.654

DCLRE1C (ARTEMIS) mutations causing phenotypes ranging from atypical severe combined immunodeficiency to mere antibody deficiency
Volk T, Pannicke U, Reisli I, Bulashevska A, Ritter J, Björkman A, Schäffer AA, Fliegauf M, Sayar EH, Salzer U, Fisch P, Pfeifer D, Di Virgilio M, Cao H, Yang F, Zimmermann K, Keles S, Caliskaner Z, Güner Ş, Schindler D, Hammarström L, Rizzi M, Hummel M, Pan-Hammarström Q, Schwarz K, Grimbacher B.
Hum Mol Genet. 2015 Dec 20;24(25):7361-72. Epub 2015 Oct 16.
Impact Factor: 6.677

Activating PI3Kδ mutations in a cohort of 669 patients with primary immunodeficiency
Elgizouli M, Lowe DM, Speckmann C, Schubert D, Hülsdünker J, Eskandarian Z, Dudek A, Schmitt-Graeff A, Wanders J, Jørgensen SF, Fevang B, Salzer U, Nieters A, Burns S, Grimbacher B.
Clin Exp Immunol. 2016 Feb;183(2):221-9. Epub 2015 Nov 9.
Impact Factor: 3.278

Haploinsufficiency of the NF-κB1 Subunit p50 in Common Variable Immunodeficiency
Fliegauf M, Bryant VL, Frede N, Slade C, Woon ST, Lehnert K, Winzer S, Bulashevska A, Scerri T, Leung E, Jordan A, Keller B, de Vries E, Cao H, Yang F, Schäffer AA, Warnatz K, Browett P, Douglass J, Ameratunga RV, van der Meer JW, Grimbacher B.
Am J Hum Genet. 2015 Sep 3;97(3):389-403. Epub 2015 Aug 13.
Impact Factor: 10.987

Symptomatic Males and Female Carriers in a Large Caucasian Kindred with XIAP Deficiency
Dziadzio M, Ammann S, Canning C, Boyle F, Hassan A, Cale C, Elawad M, Fiil BK, Gyrd-Hansen M, Salzer U, Speckmann C, Grimbacher B.
J Clin Immunol. 2015 Jul;35(5):439-44.
Impact Factor: 2.654

The extended clinical phenotype of 64 patients with dedicator of cytokinesis 8 deficiency
Engelhardt KR, Gertz ME, Keles S, Schäffer AA, Sigmund EC, Glocker C, Saghafi S, Pourpak Z, Ceja R, Sassi A, Graham LE, Massaad MJ, Mellouli F, Ben-Mustapha I, Khemiri M, Kilic SS, Etzioni A, Freeman AF, Thiel J, Schulze I, Al-Herz W, Metin A, Sanal Ö, Tezcan I, Yeganeh M, Niehues T, Dueckers G, Weinspach S, Patiroglu T, Unal E, Dasouki M, Yilmaz M, Genel F, Aytekin C, Kutukculer N, Somer A, Kilic M, Reisli I, Camcioglu Y, Gennery AR, Cant AJ, Jones A, Gaspar BH, Arkwright PD, Pietrogrande MC, Baz Z, Al-Tamemi S, Lougaris V, Lefranc G, Megarbane A, Boutros J, Galal N, Bejaoui M, Barbouche MR, Geha RS, Chatila TA, Grimbacher B.
J Allergy Clin Immunol. 2015 Aug;136(2):402-12.
Impact factor: 11.248

Autosomal dominant immune dysregulation syndrome in humans with CTLA4 mutations
Schubert D, Bode C, Kenefeck R, Hou TZ, Wing JB, Kennedy A, Bulashevska A, Petersen BS, Schäffer AA, Grüning BA, Unger S, Frede N, Baumann U, Witte T, Schmidt RE, Dueckers G, Niehues T, Seneviratne S, Kanariou M, Speckmann C, Ehl S, Rensing-Ehl A, Warnatz K, Rakhmanov M, Thimme R, Hasselblatt P, Emmerich F, Cathomen T, Backofen R, Fisch P, Seidl M, May A, Schmitt-Graeff A, Ikemizu S, Salzer U, Franke A, Sakaguchi S, Walker LS*, Sansom DM*, Grimbacher B*.
*contributed equally
Nat Med. 2014 Dec;20(12):1410-6.
Impact Factor: 28.054

Ten-year follow-up of a DOCK8-deficient child with features of systemic lupus erythematosus
Jouhadi Z, Khadir K, Ailal F, Bouayad K, Nadifi S, Engelhardt KR, Grimbacher B.
Pediatrics. 2014 Nov;134(5):e1458-63.
Impact Factor: 5.297

Hypomorphic homozygous mutations in phosphoglucomutase 3 impair immunity and increase serum IgE levels
Sassi A, Lazaroski S, Wu G, Haslam SM, Fliegauf M, Mellouli F, Patiroglu T, Unal E, Ozdemir MA, Jouhadi Z, Khadir K, Ben-Khemis L, Ben-Ali M, Ben-Mustapha I, Borchani L, Pfeifer D, Jakob T, Khemiri M, Asplund AC, Gustafsson MO, Lundin KE, Falk-Sörqvist E, Moens LN, Gungor HE, Engelhardt KR, Dziadzio M, Stauss H, Fleckenstein B, Meier R, Prayitno K, Maul-Pavicic A, Schaffer S, Rakhmanov M, Henneke P, Kraus H, Eibel H, Kölsch U, Nadifi S, Nilsson M, Bejaoui M, Schäffer AA, Smith CI, Dell A, Barbouche MR, Grimbacher B.
J Allergy Clin Immunol. 2014 Apr 1.
Impact Factor: 12.047

Clinical picture and treatment of 2212 patients with common variable immunodeficiency
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.
J Allergy Clin Immunol. 2014 Feb 27.
Impact Factor: 12.047

Evidence for non-neutralizing autoantibodies against IL-10 signalling components in patients with inflammatory bowel disease
Frede N, Glocker EO, Wanders J, Engelhardt KR, Kreisel W, Ruemmele FM, Grimbacher B.
BMC Immunol. 2014 Feb 28;15(1):10.
Impact Factor: 2.610

Activity, severity and impact of respiratory disease in primary antibody deficiency syndromes
Hurst JR, Workman S, Garcha DS, Seneviratne SL, Haddock JA, Grimbacher B.
J Clin Immunol. 2014 Jan;34(1):68-75.
Impact Factor: 3.382

Deep dermatophytosis and inherited CARD9 deficiency
Lanternier F, Pathan S, Vincent QB, Liu L, Cypowyj S, Prando C, Migaud M, Taibi L, Ammar-Khodja A, Boudghene Stambouli O, Guellil B, Jacobs F, Goffard JC, Schepers K, del Marmol V, Boussofara L, Denguezli M, Larif M, Bachelez H, Michel L, Lefranc G, Hay R, Jouvion G, Chretien F, Fraitag S, Bougnoux ME, Boudia M, Abel L, Lortholary O, Casanova JL*, Picard C*, Grimbacher B*, Puel A.*
*contributed equally
N Engl J Med. 2013 Oct 31;369(18):1704-14.
Impact Factor: 51.658

The United Kingdom Primary Immune Deficiency (UKPID) Registry: report of the first 4 years’ activity 2008-2012
Edgar JD, Buckland M, Guzman D, Conlon NP, Knerr V, Bangs C, Reiser V, Panahloo Z, Workman S, Slatter M, Gennery AR, Davies EG, Allwood Z, Arkwright PD, Helbert M, Longhurst HJ, Grigoriadou S, Devlin LA, Huissoon A, Krishna MT, Hackett S, Kumararatne DS, Condliffe AM, Baxendale H, Henderson K, Bethune C, Symons C, Wood P, Ford K, Patel S, Jain R, Jolles S, El-Shanawany T, Alachkar H, Herwadkar A, Sargur R, Shrimpton A, Hayman G, Abuzakouk M, Spickett G, Darroch CJ, Paulus S, Marshall SE, McDermott EM, Heath PT, Herriot R, Noorani S, Turner M, Khan S, Grimbacher B.
Clin Exp Immunol. 2014 Jan;175(1):68-78.
Impact Factor: 3.410

The German National Registry for Primary Immunodeficiencies (PID)
Gathmann B, Goldacker S, Klima M, Belohradsky BH, Notheis G, Ehl S, Ritterbusch H, Baumann U, Meyer-Bahlburg A, Witte T, Schmidt R, Borte M, Borte S, Linde R, Schubert R, Bienemann K, Laws HJ, Dueckers G, Roesler J, Rothoeft T, Krüger R, Scharbatke EC, Masjosthusmann K, Wasmuth JC, Moser O, Kaiser P, Groß-Wieltsch U, Classen CF, Horneff G, Reiser V, Binder N, El-Helou SM, Klein C, Grimbacher B*, Kindle G.*
*contributed equally
Clin Exp Immunol. 2013 Aug;173(2):372-80. Epub 2013 Mar 15.
Impact Factor: 3.134

Deleterious Mutations in LRBA Are Associated with a Syndrome of Immune Deficiency and Autoimmunity
Lopez-Herrera G, Tampella G, Pan-Hammarström Q, Herholz P, Trujillo-Vargas CM, Phadwal K, Simon AK, Moutschen M, Etzioni A, Mory A, Srugo I, Melamed D, Hultenby K, Liu C, Baronio M, Vitali M, Philippet P, Dideberg V, Aghamohammadi A, Rezaei N, Enright V, Du L, Salzer U, Eibel H, Pfeifer D, Veelken H, Stauss H, Lougaris V, Plebani A, Gertz EM, Schäffer AA, Hammarström L, Grimbacher B.
Am J Hum Genet. 2012 Jun 8;90(6):986-1001 . Epub 2012 May 16.
Impact Factor: 11.680

Efficacy and safety of hizentra(®) in patients with primary immunodeficiency after a dose-equivalent switch from intravenous or subcutaneous replacement therapy
Jolles S, Bernatowska E, de Gracia J, Borte M, Cristea V, Peter HH, Belohradsky BH, Wahn V, Neufang-Hüber J, Zenker O, Grimbacher B.
Clin Immunol. 2011 Oct; 141(1): 90-102. Epub 2011 Jun 12.
Impact Factor: 3.932

Importance of B cell co-stimulation in CD4(+) T cell differentiation: X-linked agammaglobulinaemia, a human model
Martini H, Enright V, Perro M, Workman S, Birmelin J, Giorda E, Quinti I, Lougaris V, Baronio M, Warnatz K, Grimbacher B.
Clin Exp Immunol. 2011 Jun;164(3):381-7. Epub 2011 Apr 13.
Impact Factor: 3.134

Infant colitis–it’s in the genes
Glocker EO, Frede N, Perro M, Sebire N, Elawad M, Shah N, Grimbacher B.
Lancet. 2010 Oct 9;376(9748):1272.
Impact Factor: 30.758

Mutations in STAT3 and diagnostic guidelines for hyper-IgE syndrome
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, Breborowicz 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.
J Allergy Clin Immunol. 2010 Feb;125(2):424-432.e8.
Impact Factor: 9.165

Large deletions and point mutations involving the dedicator of cytokinesis 8 (DOCK8) in the autosomal-recessive form of hyper-IgE syndrome
Engelhardt KR, McGhee S, Winkler S, Sassi A, Woellner C, Lopez-Herrera G, Chen A, Kim HS, Lloret MG, Schulze I, Ehl S, Thiel J, Pfeifer D, Veelken H, Niehues T, Siepermann K, Weinspach S, Reisli I, Keles S, Genel F, Kutukculer N, Camcioğlu Y, Somer A, Karakoc-Aydiner E, Barlan I, Gennery A, Metin A, Degerliyurt A, Pietrogrande MC, Yeganeh M, Baz Z, Al-Tamemi S, Klein C, Puck JM, Holland SM, McCabe ER, Grimbacher B*, Chatila TA*.
*contributed equally and considered aequo loco
J Allergy Clin Immunol. 2009 Dec;124(6):1289-302.e4.
Impact Factor: 9.165

Inflammatory Bowel Disease and Mutations Affecting the Interleukin-10 Receptor
Glocker EO, Kotlarz D, Boztug K, Gertz EM, Schäffer AA, Noyan F, Perro M, Diestelhorst J, Allroth A, Murugan D, Hätscher N, Pfeifer D, Sykora KW, Sauer M, Kreipe H, Lacher M, Nustede R, Woellner C, Baumann U, Salzer U, Koletzko S, Shah N, Segal AW, Sauerbrey A, Buderus S, Snapper SB, Grimbacher B*, Klein C*.
*contributed equally and considered aequo loco
N Engl J Med. 2009 Nov 19;361(21):2033-45.
Impact Factor: 47.050

A homozygous CARD9 mutation in a family with susceptibility to fungal infections
Glocker EO, Hennigs A, Nabavi M, Schäffer AA, Woellner C, Salzer U, Pfeifer D, Veelken H, Warnatz K, Tahami F, Jamal S, Manguiat A, Rezaei N, Amirzargar A, Plebani A, Hannesschläger N, Gross O, Ruland J, Grimbacher B.
N Engl J Med. 2009 Oct 29;361(18):1727-35.
Impact Factor: 47.050

Decrease in phenotypic regulatory T cells in subsets of patients with common variable immunodeficiency
Horn J, Manguiat A, Berglund LJ, Knerr V, Tahami F, Grimbacher B*, Fulcher DA.*
*contributed equally
Clin Exp Immunol. 2009 Jun;156(3):446-54.
Impact Factor: 2.853

STAT3 single-nucleotide polymorphisms and STAT3 mutations associated with hyper-IgE syndrome are not responsible for increased serum IgE serum levels in asthma families
Wjst M, Lichtner P, Meitinger T, Grimbacher B.
Eur J Hum Genet. 2009 Mar;17(3):352-6. Epub 2008 Oct 8.
Impact Factor: 3.925

Relevance of biallelic versus monoallelic TNFRSF13B mutations in distinguishing disease-causing from risk-increasing TNFRSF13B variants in antibody deficiency syndromes
Salzer U, Bacchelli C, Buckridge S, Pan-Hammarström Q, Jennings S, Lougaris V, Bergbreiter A, Hagena T, Birmelin J, Plebani A, Webster AD, Peter HH, Suez D, Chapel H, McLean-Tooke A, Spickett GP, Anover-Sombke S, Ochs HD, Urschel S, Belohradsky BH, Ugrinovic S, Kumararatne DS, Lawrence TC, Holm AM, Franco JL, Schulze I, Schneider P, Gertz EM, Schäffer AA, Hammarström L, Thrasher AJ, Gaspar HB, Grimbacher B.
Blood. 2009 Feb 26;113(9):1967-76. Epub 2008 Nov 3.
Impact Factor: 10.555

The ESID Online Database for primary immunodeficiencies. First analyses with regard to Germany and Europe
[Article in German]
Knerr V, Gathmann B, Eades-Perner AM, Kindle G, Grimbacher B.
Med Klin (Munich). 2008 Sep 15;103(9):620-7.
Impact Factor: 0.451

Sequence Analysis of BIRC4/XIAP in Male Patients with Common Variable Immunodeficiency
Salzer U, Hagena T, Webster DB, Grimbacher B.
Int Arch Allergy Immunol. 2008 Jun 3;147(2):147-151.
Impact Factor: 2.131

Toll-like receptor stimulation induces higher TNF-alpha secretion in peripheral blood mononuclear cells from patients with hyper IgE syndrome
Yeganeh M, Henneke P, Rezaei N, Ehl S, Thiel D, Matamoros N, Pietrogrande C, Espanol T, Litzman J, Franco 6L, Sanal O, Kilic SS, Breborowicz A, Plebani A, Renner E, Rothenfusser S, Hawn TR, Woellner C, Grimbacher B.
Int Arch Allergy Immunol. 2008;146(3):190-4.
Impact Factor: 2.131

The hyper-IgE syndrome is not caused by a microdeletion syndrome
Pfeifer D, Woellner C, Petersen A, Pietrogrande MC, Franco JL, Yeganeh M, Ehl S, Matamoros N, Sprecher E, Puck JM, Veelken H, Grimbacher B.
Immunogenetics. 2007 Dec;59(12):913-26. Epub 2007 Nov 14.
Impact Factor: 2.793

STAT3 Mutations in the Hyper-IgE Syndrome
Holland SM, Deleo FR, Elloumi HZ, Hsu AP, Uzel G, Brodsky N, Freeman AF, Demidowich A, Davis J, Turner ML, Anderson VL, Darnell DN, Welch PA, Kuhns DB, Frucht DM, Malech HL, Gallin JI, Kobayashi SD, Whitney AR, Voyich JM, Musser JM, Woellner C, Schaffer AA, Puck JM*, Grimbacher B*.
*contributed equally and considered aequo loco
N Engl J Med. 2007 Oct 18;357(16):1608-19. (Cited by 330)
Impact Factor: 50.017

Sequence Analysis of TNFRSF13b, Encoding TACI, in Patients with Systemic
Salzer U, Birmelin J, Bacchelli C, Witte T, Buchegger-Podbielski U, Buckridge S, Rzepka R, Gaspar HB, Thrasher AJ, Schmidt RE, Melchers I, Grimbacher B.
Lupus Erythematosus. J Clin Immunol. 2007 Apr 27
Impact Factor: 3.248

The ESID Online Database network
Guzman D, Veit D, Knerr V, Kindle G, Gathmann B, Eades-Perner AM, Grimbacher B.
Bioinformatics. 2007 Mar 1;23(5):654-5. Epub 2007 Jan 19.
Impact Factor: 5.039

For the ESID Registry The European internet-based patient and research database for primary immunodeficiencies: results 2004-06
Eades-Perner AM, Gathmann B, Knerr V, Guzman D, Veit D, Kindle G, Grimbacher B.
Clin Exp Immunol. 2007 Feb;147(2):306-12.
Impact Factor: 2.853

HAX1 deficiency causes autosomal recessive severe congenital neutropenia (Kostmann disease).
Klein C, Grudzien M, Appaswamy G, Germeshausen M, Sandrock I, Schaffer AA, Rathinam C, Boztug K, Schwinzer B, Rezaei N, Bohn G, Melin M, Carlsson G, Fadeel B, Dahl N, Palmblad J, Henter JI, Zeidler C, Grimbacher B*, Welte K*.
*contributed equally and considered aequo loco
Nat Genet. 2007 Jan;39(1):86-92.
Impact Factor: 30.259

A novel human primary immunodeficiency syndrome caused by deficiency of the endosomal adaptor protein p14
Bohn G, Allroth A, Brandes G, Thiel J, Glocker E, Schaffer AA, Rathinam C, Taub N, Teis D, Zeidler C, Dewey RA, Geffers R, Buer J, Huber LA, Welte K, Grimbacher B*, Klein C*.
*contributed equally and considered aequo loco
Nat Med. 2007 Jan;13(1):38-45.
Impact Factor: 27.553

Anti-IgA antibodies in Common Variable Immunodeficiency (CVID): Diagnostic workup and therapeutic strategy
Horn J, Thon V, Bartonkova D, Salzer U, Warnatz K, Schlesier M, Peter HH, Grimbacher B.
Clin Immunol. 2007 Feb;122(2):156-62. Epub 2006 Nov 28
Impact Factor: 3.606

Human ICOS deficiency abrogates the germinal center reaction and provides a monogenic model for common variable immunodeficiency
Warnatz K, Bossaller L, Salzer U, Skrabl-Baumgartner A, Schwinger W, van der Burg M, van Dongen JJ, Orlowska-Volk M, Knoth R, Durandy A, Draeger R, Schlesier M, Peter HH, Grimbacher B.
Blood. 2006 Apr 15; 107(8):3045-52.
Impact Factor: 10.432

Linkage of autosomal-dominant common variable immunodeficiency to chromosome 4q
Finck A, Van der Meer JW, Schaffer AA, Pfannstiel J, Fieschi C, Plebani A, Webster AD, Hammarstrom L, Grimbacher B.
Eur J Hum Genet. 2006 Jul;14(7):867-75. Epub 2006 Apr 26
Impact Factor: 3.925

Identification of a homozygous deletion in the AP3B1 gene causing Hermansky-Pudlak syndrome, type 2
Jung J, Bohn G, Allroth A, Boztug K, Brandes G, Sandrock I, Schaffer AA, Rathinam C, Kollner I, Beger C, Schilke R, Welte K, Klein C, Grimbacher B.
Blood. 2006 Mar 14
Impact Factor: 10.432

Analysis of families with common variable immunodeficiency (CVID) and IgA deficiency suggests linkage of CVID to chromosome 16q
Schaffer AA, Pfannstiel J, Webster AD, Plebani A, Hammarstrom L, Grimbacher B.
Hum Genet. 2005 Nov, 22:1-5
Impact Factor: 4.042

Mutations in TNFRSF13B encoding TACI are associated with common variable immunodeficiency in humans
Salzer U, Chapel HM, Webster AD, Pan-Hammarstrom Q, Schmitt-Graeff A, Schlesier M, Peter HH, Rockstroh JK, Schneider P, Schaffer AA, Hammarstrom L, Grimbacher B.
Nat Genet. 2005 Aug; 37(8): 820-8. (Cited by 349)
Impact Factor: 30.259

ICOS-Deficiency in Patients with Common Variable Immunodeficiency
Salzer U, Maul-Pavicic A, Cunningham-Rundles C, Urschel S, Belohradsky BH, Litzmann J, Holm A, Franco JL, Plebani A, Hammarstrom L, Skrabl A, Schwinger W, Grimbacher B.
Clin Immunol. 2004 Dec; 113(3): 234-40.
Impact Factor: 3.606

Autosomal recessive hyperimmunoglobulin E syndrome: a distinct disease entity
Renner ED, Puck JM, Holland S, Schmitt M, Weiss M, Frosch M, Bergmann M, Davis J, Belohradsky B, Grimbacher B.
J Pediatr. 2004 144:93-9.
Impact Factor: 4.122

Linkage of Autosomal Dominant Common Variable Immunodeficiency to Chromosome 5p and Evidence for Locus Heterogeneity
Braig D.U., A.A. Schäffer, E. Glocker, U. Salzer, K. Warnatz, H.H. Peter, Grimbacher B.
Hum Genet. 2003, 112: 369-378.
Impact Factor: 4.042