@article{vonBernuthRavindranDuetal.2014,
  author    = {von Bernuth, Horst and Ravindran, Ethiraj and Du, Hang and Froehler, Sebastian and Strehl, Karoline and Kraemer, Nadine and Issa-Jahns, Lina and Amulic, Borko and Ninnemann, Olaf and Xiao, Mei-Sheng and Eirich, Katharina and Koelsch, Uwe and Hauptmann, Kathrin and John, Rainer and Schindler, Detlev and Wahn, Volker and Chen, Wei and Kaindl, Angela M.},
  title     = {Combined immunodeficiency develops with age in Immunodeficiency-centromeric instability-facial anomalies syndrome 2 (ICF2)},
  series = {Orphanet Journal of Rare Dieeases},
  volume    = {9},
  journal   = {Orphanet Journal of Rare Dieeases},
  doi       = {10.1186/s13023-014-0116-6},
  url       = {http://nbn-resolving.de/urn:nbn:de:bvb:20-opus-114859},
  pages     = {116},
  year      = {2014},
  abstract  = {The autosomal recessive immunodeficiency-centromeric instability-facial anomalies syndrome (ICF) is characterized by immunodeficiency, developmental delay, and facial anomalies. ICF2, caused by biallelic ZBTB24 gene mutations, is acknowledged primarily as an isolated B-cell defect. Here, we extend the phenotype spectrum by describing, in particular, for the first time the development of a combined immune defect throughout the disease course as well as putative autoimmune phenomena such as granulomatous hepatitis and nephritis. We also demonstrate impaired cell-proliferation and increased cell death of immune and non-immune cells as well as data suggesting a chromosome separation defect in addition to the known chromosome condensation defect.},
  language  = {en}
}
@article{HanitschBaumannBoztugetal.2020,
  author    = {Hanitsch, Leif and Baumann, Ulrich and Boztug, Kaan and Burkhard-Meier, Ulrike and Fasshauer, Maria and Habermehl, Pirmin and Hauck, Fabian and Klock, Gerd and Liese, Johannes and Meyer, Oliver and M{\"u}ller, Rainer and Pachlopnik-Schmid, Jana and Pfeiffer-Kascha, Dorothea and Warnatz, Klaus and Wehr, Claudia and Wittke, Kirsten and Niehues, Tim and von Bernuth, Horst},
  title     = {Treatment and management of primary antibody deficiency: German interdisciplinary evidence-based consensus guideline},
  series = {European Journal of Immunology},
  volume    = {50},
  journal   = {European Journal of Immunology},
  number    = {10},
  doi       = {10.1002/eji.202048713},
  url       = {http://nbn-resolving.de/urn:nbn:de:bvb:20-opus-225731},
  pages     = {1432 -- 1446},
  year      = {2020},
  abstract  = {This evidence-based clinical guideline provides consensus-recommendations for the treatment and care of patients with primary antibody deficiencies (PADs). The guideline group comprised 20 clinical and scientific expert associations of the German, Swiss, and Austrian healthcare system and representatives of patients. Recommendations were based on results of a systematic literature search, data extraction, and evaluation of methodology and study quality in combination with the clinical expertise of the respective representatives. Consensus-based recommendations were determined via nominal group technique. PADs are the largest clinically relevant group of primary immunodeficiencies. Most patients with PADs present with increased susceptibility to infections, however immune dysregulation, autoimmunity, and cancer affect a significant number of patients and may precede infections. This guideline therefore covers interdisciplinary clinical and therapeutic aspects of infectious (e.g., antibiotic prophylaxis, management of bronchiectasis) and non-infectious manifestations (e.g., management of granulomatous disease, immune cytopenia). PADs are grouped into disease entities with definitive, probable, possible, or unlikely benefit of IgG-replacement therapy. Summary and consensus-recommendations are provided for treatment indication, dosing, routes of administration, and adverse events of IgG-replacement therapy. Special aspects of concomitant impaired T-cell function are highlighted as well as clinical data on selected monogenetic inborn errors of immunity formerly classified into PADs (APDS, CTLA-4-, and LRBA-deficiency).},
  language  = {en}
}