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1.
Multilayer concept of autoimmune mechanisms and manifestations in inborn errors of immunity: Relevance for precision therapy.
J Allergy Clin Immunol
; 153(3): 615-628.e4, 2024 Mar.
Article
in English
| MEDLINE | ID: mdl-38185417
2.
Clinical and Treatment History of Patients with Partial DiGeorge Syndrome and Autoimmune Cytopenia at Multiple Centers.
J Clin Immunol
; 44(2): 42, 2024 Jan 17.
Article
in English
| MEDLINE | ID: mdl-38231436
3.
Spontaneous remission and loss of monosomy 7: a window of opportunity for young children with SAMD9L syndrome.
Haematologica
; 109(2): 422-430, 2024 Feb 01.
Article
in English
| MEDLINE | ID: mdl-37584291
4.
The Human Phenotype Ontology in 2021.
Nucleic Acids Res
; 49(D1): D1207-D1217, 2021 01 08.
Article
in English
| MEDLINE | ID: mdl-33264411
5.
Phenotype, genotype, treatment, and survival outcomes in patients with X-linked inhibitor of apoptosis deficiency.
J Allergy Clin Immunol
; 150(2): 456-466, 2022 08.
Article
in English
| MEDLINE | ID: mdl-34920033
6.
Curation and expansion of Human Phenotype Ontology for defined groups of inborn errors of immunity.
J Allergy Clin Immunol
; 149(1): 369-378, 2022 01.
Article
in English
| MEDLINE | ID: mdl-33991581
7.
The Immune Deficiency and Dysregulation Activity (IDDA2.1 'Kaleidoscope') Score and Other Clinical Measures in Inborn Errors of Immunity.
J Clin Immunol
; 42(3): 484-498, 2022 04.
Article
in English
| MEDLINE | ID: mdl-34797428
8.
Regulatory B cells in patients suffering from inborn errors of immunity with severe immune dysregulation.
J Autoimmun
; 132: 102891, 2022 10.
Article
in English
| MEDLINE | ID: mdl-36113303
9.
Immunological recovery following HLA-matched CD3+ TCR αß+/CD19+ depleted hematopoietic stem cell transplantation in children.
Pediatr Transplant
; 26(5): e14285, 2022 08.
Article
in English
| MEDLINE | ID: mdl-35441401
10.
Simple Measurement of IgA Predicts Immunity and Mortality in Ataxia-Telangiectasia.
J Clin Immunol
; 41(8): 1878-1892, 2021 11.
Article
in English
| MEDLINE | ID: mdl-34477998
11.
Novel phenotypes observed in patients with ETV6-linked leukaemia/familial thrombocytopenia syndrome and a biallelic ARID5B risk allele as leukaemogenic cofactor.
J Med Genet
; 57(6): 427-433, 2020 06.
Article
in English
| MEDLINE | ID: mdl-31704777
12.
Treatment with rapamycin can restore regulatory T-cell function in IPEX patients.
J Allergy Clin Immunol
; 145(4): 1262-1271.e13, 2020 04.
Article
in English
| MEDLINE | ID: mdl-31874182
13.
Long-term outcome of LRBA deficiency in 76 patients after various treatment modalities as evaluated by the immune deficiency and dysregulation activity (IDDA) score.
J Allergy Clin Immunol
; 145(5): 1452-1463, 2020 05.
Article
in English
| MEDLINE | ID: mdl-31887391
14.
Rethinking PIDs: Why the distinction between primary and secondary immune disorders is more frequently relevant than that between inborn and acquired errors of immunity.
J Allergy Clin Immunol
; 153(6): 1543-1545, 2024 Jun.
Article
in English
| MEDLINE | ID: mdl-38316271
15.
A sensitive and scalable microsatellite instability assay to diagnose constitutional mismatch repair deficiency by sequencing of peripheral blood leukocytes.
Hum Mutat
; 40(5): 649-655, 2019 05.
Article
in English
| MEDLINE | ID: mdl-30740824
16.
Platelet expression of the transcription factor ETV6 associates with ETV6-related thrombocytopenia and can be detected by immunofluorescence on the blood film.
Br J Haematol
; 204(2): 710-714, 2024 02.
Article
in English
| MEDLINE | ID: mdl-37985135
17.
Correction to: Clinical and Treatment History of Patients with Partial DiGeorge Syndrome and Autoimmune Cytopenia at Multiple Centers.
J Clin Immunol
; 44(3): 72, 2024 Feb 29.
Article
in English
| MEDLINE | ID: mdl-38421526
18.
Intrinsic and extrinsic causes of malignancies in patients with primary immunodeficiency disorders.
J Allergy Clin Immunol
; 141(1): 59-68.e4, 2018 01.
Article
in English
| MEDLINE | ID: mdl-28669558
19.
The minimum required level of donor chimerism in hereditary hemophagocytic lymphohistiocytosis.
Blood
; 127(25): 3281-90, 2016 06 23.
Article
in English
| MEDLINE | ID: mdl-27099148
20.
Malignancy and chemotherapy induced haemophagocytic lymphohistiocytosis in children and adolescents-a single centre experience of 20 years.
Ann Hematol
; 97(6): 989-998, 2018 Jun.
Article
in English
| MEDLINE | ID: mdl-29411124