Arbeitsgemeinschaft Pädiatrische Immunologie



New and old challenges in the management of immune disorders






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Donnerstag 25. Mai 2017 / Thursday 25th of May

Morning: Pre-Meeting of Working Groups

AG Neugeborenenscreening (TREC/KREC)


12:00 - 13:00 h

Registration for the API meeting

13:00 h                 Session 1:

Type I interferonopathies - A. Roesen-Wolff (Dresden) / H. Wittkowski (Münster)

Yanick Crow, Paris, INSERM

"What drives interferonopathies?"


Oral Presentations (10+4)

Stephan Ehl, Freiburg: Bone marrow is the key site of excessive IFN gamma production in primary hemophagocytic lymphohistiocytosis

Sandra Ammann, Freiburg: Primary and secondary hemophagocytic lymphohistiocytosis have different patterns of T-cell activation, differentiation and repertoire

Katharina Wustrau, Hamburg: A Registry for Hemophagocytic Lymphohistiocytosis by the Histiocyte Society and the European Society for Immunodeficiencies

Sybille Landwehr-Kenzel, Berlin: In vivo survival and function of adoptively transferred natural regulatory T cells is supported by combination with Cyclosporine A therapy - new insights from a humanized GvHD mouse model

Case Reports (5+3)

Christian Klemann, Hannover: Hemophagocytic lymphohistiocytosis as presenting manifestation of profound combined immunodeficiency due to an ORAI1 mutation

Markus Seidel, Graz: A severe refractory autoinflammatory overlap syndrome with multiple genetic suspects - other options than transplantation?

Claas Hinze, Münster: NCF4 mutations associated with inflammatory bowel disease-like disease

15:15 - 15:45 h      Coffee break

15:45 h                 Session 2:

How do I Diagnose? - K. Schwarz (Ulm) / F. Hauck (München)

Stephan Ehl, Freiburg, CCI

“Diagnosing immune disorders by functional testing“

Oral Presentations (10+4)

Sabine El-Helou, Freiburg: PID-Net Registry: The German Registry for Primary Immunodeficiency

Bernd Gruhn, Jena: New EBMT diagnosis and severity criteria for sinusoidal obstruction syndrome/veno-­‐occlussive disease in pediatric patients

Raul Jimenez Heredia, Wien: Next-generation sequencing targeted approach and analysis pipeline for Primary Immunodeficiencies and rare Hematological disorders

Kerstin Felgentreff, Ulm: Radiation Sensitivity Testing on Lymphocytes as a Diagnostic Tool to Identify DNA Repair Defects

Jana Pachlopnik Schmid, Zürich: Causes of low neonatal T-cell receptor excision circles (TRECs): a systematic review

Case Reports (5+3)

Alexander Blank, Ulm: Hyper IgE Syndrome-like Phenotype in a Patient with ARPC1B Deficiency

Rita Beier, Essen: Allogeneic monoclonal T cell lymphoproliferation presenting as severe immunodysregulation with granulomatous inflammation and life threatening vasculitis after heart transplantation in a 10 year old boy


19:00 h                 Dinner



Freitag 26. Mai 2017 / Friday 26th of May


8:00 h:                 Session 3:

New aspects of innate immune regulation - Ch. Hedrich (Dresden) / N. Wagner (Aachen)

James DiSanto, Paris, Institut Pasteur

"Innate lymphoid cell diversification and function in immunity"

Oral Presentations (10+4)

Christoph Kessel, Münster: An extracellular ionic milieu renders genulocytic S100A12 a pro inflammatory toll like receptor 4 binding alarmin

Emely Verweyen, Münster: Human monocytic interleukin 1b and interleukin 18 follow similar secretion but divergent gene expression kinetics

Jürgen Brunner, Innsbruck: Complement activation profiles in juvenile idiopathic arthritis

Case Reports (5+3)

Catharina Schütz, Ulm: ADA2 deficiency - spectrum of presentation in 3 siblings

Leif Hanitsch, Berlin: Free serum light chains in the differential diagnosis and prognosis of CVID patients and patients with unclassified antibody deficiency

Johann Greil, Heidelberg: Mutations in sphingosine-1-phosphate lyase cause nephrosis with ichthyosis and adrenal insufficiency

10:00 - 10:30 h      Coffee break

10:30 h                 Session 4:

How do I prevent? - U. Baumann (Hannover) / A. Groll (Münster)

Thomas Lehrnbecher, Frankfurt a.M.

“Antibicrobials: Challenges in prevention and therapy of infections"


Oral Presentations (10+4)

Fabian Speth, Rostock: Varicella-Zoster-Virus vaccination in Immunosuppressed Children without suspension of immunosuppression: proposal for a practicable pre-vaccination checklist

Ellen Renner, München: Management of chronic lung disease in STAT3 hyper-IgE syndrome

Katharina Goessling, Düsseldorf: Anti- and proinflammatory properties of Aspergillus fumigatus cell wall chitin

Case Reports (5+3)

Maria Elena Maccari, Freiburg: Severe Toxoplasma gonii infection and immunological dysfunction in apatient of a NFKB2-deficiency family

Renate Krüger, Berlin: Scabies, periorbital cellulitis and recurrent skin abscesses due to Panton-Valentine Leukocidin positive S. aureus mimic hyper IgE syndrome in an infant

Michael Bauer, Berlin: Antibiotic prophylaxis, immunoglobulin substitution and supportive measures prevent infections in MECP2 Duplication Syndrome


12:30 - 13:30 h      Lunch

13:30 h                 Session 5:

Common Variable Immunodeficiency - V. Wahn (Berlin) / H. v. Bernuth (Berlin)

Kaan Boztug, Wien

“Novel insights at the border of immunodeficiendy and immune dysregulation“


Oral Presentations (10+4)

Tiziana Lorenzini, Freiburg: NFKB1 mutations located downstream of the nuclear localization signal (NLS) lead to constitutive NF-KB activation in resting cells and a paradoxical suppression by TNF stimulation

Henner Morbach, Würzburg: Insights into the function of IgD on human B cells from individuals with heterozygous mutations in IGHD

Maria Faßhauer, Leipzig: Local tolerability of subcutaneous therapy - Results from PID-NET registry (support code: 01GM1517C) and LocTol pilot study of IDCL

Case Reports (5+3)

Gregor Dückers, Krefeld: Immunodeficiency in a patient with Smith Magenis Syndrome carrying a stop mutation in TACI beside classical monoallelic deletion of 17q11.2

Benedikt Spielberger, München: Novel STAT3 mutation results in diminished STAT3 function and autosomal-dominant Hyper-IgE Syndrome

Tuba Turul-Özgür, Ankara: Clinical features of chronic granulomatous disease: a series of 26 patients from a single center


15:30 - 16:00 h      Coffee break

16:00 h                 Session 6:

How do I cure (now and in the future)? - C. Klein (München) / A. Schulz (Ulm)

Francesca Ferrua, Milan, IRCCS San Raffaele Hospital

„From basic research to gene therapy of immunologic disorders"


Oral Presentations (10+4)

Sujal Ghosh, Düsseldorf: T cell gene transfer corrects cytotoxicity defects in perforin deficiency

Georg Varga, Münster: Balancing JAK-signaling in monocytes allows for cross-talk to naive T-cells resulting in development of anti-inflammatory Tregs

Susan Farmand, Stockholm: AWMF-Guideline for diagnosing primary immunodeficiencies

Case Reports (5+3)

Katharina Wustrau, Hamburg: Symptomatic deficiency of the X-linked inhibitor of apoptosis (XIAP) due to extremely skewed X-inactivation in a four-year-old girl


Presentation of the Walter Hitzig Award 2017

18:00 h                 Member's general meeting

19:30 h                 Dinner



Samstag 27. Mai 2017 / Saturday 27th of May

8:00 h                 Session 7:

Unspecific immunomodulatory effects of vaccination - H. Morbach (Würzburg) / R. Seger (Zürich)

Tobias R. Kollmann, Vancouver (BC)

„The power of non-specific and heterologous effects of vaccination"


Oral Presentations (10+4)

Guilia Armaroli, Münster: S100A12 activates vascular endothelial cells via interleukin 1

Anne Sophie Kubasch, Dresden: Serum biomarkers for the diagnosis and monitoring of chronic recurrent multifocal osteomyelitis (CRMO)

Dorothee Viemann, Hannover: S100 alarmin-induced innate immune programming protects newborn infants from sepsis

Case Reports (5+3)

Anna Eichinger, München: Fatal and non-fatal properdin deficiency in monozygotic twins

Gregor Dückers, Krefeld: ATP6AP1 defciency causes immunodeficiency with hepatopathy, cognitive impairment and abnormal protein gycosylation

Tobias Rothoeft, Bochum: An adolescent with severe IL-36 receptor antagonist deficiency like disease

10:00 - 10:30 h      Coffee break

10:30 h                 Session 8:

How do I treat? - S. Borte (Leipzig) / J. Brunner (Innsbruck)

Anders Fasth, Göteborg

„Immunoglobulines: Substitution, immunomodulation, alternatives"


Oral Presentations (10+4)

Eva-Maria Jacobsen, Ulm: Mixed donor chimerism of T-cells after HLA-haploidentical bone marrow transplantation with post-transplantation cyclophsphamide in nonmalignant disorders

Johanna Neubauer, Freiburg: Mutations in the zinc finger transcription factor ZNF341 cause STAT3 insufficiency associated with familiar hyper-IgE Syndrome (HIES)

Case Reports (5+3)

Renate Krüger, Berlin: Severe epistaxis due to nasal telangiectasia in a patient with ataxia telangiectasia

Stephan Borte, Leipzig: An ambiguous blended genotype leading to combined immunodeficiency in a young adult: clinical decision-making in a plot of multi-organ autoimmunity, susceptibility to respiratory tract infections and patient non-compliance

Volker Umlauf, Sankt Augustin: A lethal course of hereditary multiple intesintal atesisas (HMIA) with only mild immunodeficiency


13:00 h                 End of the Meeting


Die Veranstaltung ist bei der Bayerischen Landesärztekammer für Fortbildungspunkte zertifiziert. Bitte denken Sie an Ihre Barcode-Aufkleber.

This meeting is certified for CME Points by the physican's chamber of Bavaria. Please remember to bring your CME barcode labels with you.

Die Veranstaltung wird freundlich unterstützt von / This Event is kindly supported by:











gefördert von der 

(Fördernummer FO 354/12-1)