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1.
Abnormal biomarkers predict complex FAS or FADD defects missed by exome sequencing.
J Allergy Clin Immunol
; 153(1): 297-308.e12, 2024 01.
Article
in English
| MEDLINE | ID: mdl-37979702
2.
MAGT1 Deficiency Dysregulates Platelet Cation Homeostasis and Accelerates Arterial Thrombosis and Ischemic Stroke in Mice.
Arterioscler Thromb Vasc Biol
; 43(8): 1494-1509, 2023 08.
Article
in English
| MEDLINE | ID: mdl-37381987
3.
Activated phosphoinositide 3-kinase δ syndrome: Update from the ESID Registry and comparison with other autoimmune-lymphoproliferative inborn errors of immunity.
J Allergy Clin Immunol
; 152(4): 984-996.e10, 2023 10.
Article
in English
| MEDLINE | ID: mdl-37390899
4.
Monogenic early-onset lymphoproliferation and autoimmunity: Natural history of STAT3 gain-of-function syndrome.
J Allergy Clin Immunol
; 151(4): 1081-1095, 2023 04.
Article
in English
| MEDLINE | ID: mdl-36228738
5.
Prospective Newborn Screening for SCID in Germany: A First Analysis by the Pediatric Immunology Working Group (API).
J Clin Immunol
; 43(5): 965-978, 2023 07.
Article
in English
| MEDLINE | ID: mdl-36843153
6.
Activation-induced deaminase is critical for the establishment of DNA methylation patterns prior to the germinal center reaction.
Nucleic Acids Res
; 49(9): 5057-5073, 2021 05 21.
Article
in English
| MEDLINE | ID: mdl-33950194
7.
Therapeutic options for CTLA-4 insufficiency.
J Allergy Clin Immunol
; 149(2): 736-746, 2022 02.
Article
in English
| MEDLINE | ID: mdl-34111452
8.
Biomarkers of DNA Damage Response Enable Flow Cytometry-Based Diagnostic to Identify Inborn DNA Repair Defects in Primary Immunodeficiencies.
J Clin Immunol
; 42(2): 286-298, 2022 02.
Article
in English
| MEDLINE | ID: mdl-34716846
9.
The First 4 Years - Outcome of Children Identified by Newborn Screening for CF in Germany.
Klin Padiatr
; 234(5): 284-292, 2022 Sep.
Article
in English
| MEDLINE | ID: mdl-35098497
10.
Multisystem inflammation and susceptibility to viral infections in human ZNFX1 deficiency.
J Allergy Clin Immunol
; 148(2): 381-393, 2021 08.
Article
in English
| MEDLINE | ID: mdl-33872655
11.
A novel NFKBIA variant substituting serine 36 of IκBα causes immunodeficiency with warts, bronchiectasis and juvenile rheumatoid arthritis in the absence of ectodermal dysplasia.
Clin Immunol
; 210: 108269, 2020 01.
Article
in English
| MEDLINE | ID: mdl-31683054
12.
Distinct molecular response patterns of activating STAT3 mutations associate with penetrance of lymphoproliferation and autoimmunity.
Clin Immunol
; 210: 108316, 2020 01.
Article
in English
| MEDLINE | ID: mdl-31770611
13.
Incidence of SCID in Germany from 2014 to 2015 an ESPED* Survey on Behalf of the API*** Erhebungseinheit für Seltene Pädiatrische Erkrankungen in Deutschland (German Paediatric Surveillance Unit) ** Arbeitsgemeinschaft Pädiatrische Immunologie.
J Clin Immunol
; 40(5): 708-717, 2020 07.
Article
in English
| MEDLINE | ID: mdl-32458183
14.
Synthetic retinoid AM80 inhibits IL-17 production of gamma delta T cells and ameliorates biliary atresia in mice.
Liver Int
; 40(12): 3031-3041, 2020 12.
Article
in English
| MEDLINE | ID: mdl-33463083
15.
Hepatocyte growth factor levels in livers and serum at Kasai-portoenterostomy are not predictive of clinical outcome in infants with biliary atresia.
Growth Factors
; 37(1-2): 68-75, 2019 04.
Article
in English
| MEDLINE | ID: mdl-31185750
16.
Non-CF Bronchiectasis as a Possible Indicator of a Primary Immunodeficiency: Diagnosis, Clinical Course, and Quality of Life in a Pediatric Cohort.
Klin Padiatr
; 231(5): 240-247, 2019 Sep.
Article
in English
| MEDLINE | ID: mdl-31340404
17.
Enhanced activation of interleukin-10, heme oxygenase-1, and AKT in C5aR2-deficient mice is associated with protection from ischemia reperfusion injury-induced inflammation and fibrosis.
Kidney Int
; 94(4): 741-755, 2018 10.
Article
in English
| MEDLINE | ID: mdl-29935951
18.
Primary and secondary hemophagocytic lymphohistiocytosis have different patterns of T-cell activation, differentiation and repertoire.
Eur J Immunol
; 47(2): 364-373, 2017 02.
Article
in English
| MEDLINE | ID: mdl-27925643
19.
CD57 identifies T cells with functional senescence before terminal differentiation and relative telomere shortening in patients with activated PI3 kinase delta syndrome.
Immunol Cell Biol
; 96(10): 1060-1071, 2018 11.
Article
in English
| MEDLINE | ID: mdl-29790605
20.
Hyperactive mTOR pathway promotes lymphoproliferation and abnormal differentiation in autoimmune lymphoproliferative syndrome.
Blood
; 128(2): 227-38, 2016 07 14.
Article
in English
| MEDLINE | ID: mdl-27099149