TY  - JOUR
A1  - Hanitsch, Leif
A1  - Baumann, Ulrich
A1  - Boztug, Kaan
A1  - Burkhard‐Meier, Ulrike
A1  - Fasshauer, Maria
A1  - Habermehl, Pirmin
A1  - Hauck, Fabian
A1  - Klock, Gerd
A1  - Liese, Johannes
A1  - Meyer, Oliver
A1  - Müller, Rainer
A1  - Pachlopnik‐Schmid, Jana
A1  - Pfeiffer‐Kascha, Dorothea
A1  - Warnatz, Klaus
A1  - Wehr, Claudia
A1  - Wittke, Kirsten
A1  - Niehues, Tim
A1  - von Bernuth, Horst
T1  - Treatment and management of primary antibody deficiency: German interdisciplinary evidence‐based consensus guideline
JF  - European Journal of Immunology
N2  - 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).
KW  - autoimmunity
KW  - CVID
KW  - hypogammaglobulinemia
KW  - immunoglobulins
KW  - primary antibody deficiency
Y1  - 2020
U6  - http://nbn-resolving.de/urn/resolver.pl?urn:nbn:de:bvb:20-opus-225731
VL  - 50
IS  - 10
SP  - 1432
EP  - 1446
ER  - 
TY  - JOUR
A1  - von Bernuth, Horst
A1  - Ravindran, Ethiraj
A1  - Du, Hang
A1  - Froehler, Sebastian
A1  - Strehl, Karoline
A1  - Kraemer, Nadine
A1  - Issa-Jahns, Lina
A1  - Amulic, Borko
A1  - Ninnemann, Olaf
A1  - Xiao, Mei-Sheng
A1  - Eirich, Katharina
A1  - Koelsch, Uwe
A1  - Hauptmann, Kathrin
A1  - John, Rainer
A1  - Schindler, Detlev
A1  - Wahn, Volker
A1  - Chen, Wei
A1  - Kaindl, Angela M.
T1  - Combined immunodeficiency develops with age in Immunodeficiency-centromeric instability-facial anomalies syndrome 2 (ICF2)
JF  - Orphanet Journal of Rare Dieeases
N2  - 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.
KW  - ZBTB24
KW  - ICF2
KW  - granulomas
KW  - facial anomalies
KW  - centromeric instability
KW  - intellectual disability
KW  - lymphoma
KW  - ZBTB24 mutations
KW  - DNMT3B
KW  - TYPE-2
KW  - immunodeficiency
KW  - microcephaly
KW  - DNA methyltransferase gene
Y1  - 2014
U6  - http://nbn-resolving.de/urn/resolver.pl?urn:nbn:de:bvb:20-opus-114859
VL  - 9
ER  -