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1.
Germline HAVCR2/TIM-3 Checkpoint Inhibitor Receptor Deficiency in Recurrent Autoinflammatory Myocarditis.
J Clin Immunol
; 44(3): 81, 2024 Mar 15.
Article
in English
| MEDLINE | ID: mdl-38485795
2.
Long-term follow up of families with pathogenic NFKB1 variants reveals incomplete penetrance and frequent inflammatory sequelae.
Clin Immunol
; 246: 109181, 2023 01.
Article
in English
| MEDLINE | ID: mdl-36356849
3.
Inflammation and Neutrophil Oxidative Burst in a Family with NFKB1 p.R157X LOF and Sterile Necrotizing Fasciitis.
J Clin Immunol
; 43(5): 1007-1018, 2023 07.
Article
in English
| MEDLINE | ID: mdl-36892687
4.
Loss of DIAPH1 causes SCBMS, combined immunodeficiency, and mitochondrial dysfunction.
J Allergy Clin Immunol
; 148(2): 599-611, 2021 08.
Article
in English
| MEDLINE | ID: mdl-33662367
5.
Characterization of the clinical and immunologic phenotype and management of 157 individuals with 56 distinct heterozygous NFKB1 mutations.
J Allergy Clin Immunol
; 146(4): 901-911, 2020 10.
Article
in English
| MEDLINE | ID: mdl-32278790
6.
A Family With A20 Haploinsufficiency Presenting With Novel Clinical Manifestations and Challenges for Treatment.
J Clin Rheumatol
; 27(8): e583-e587, 2021 Dec 01.
Article
in English
| MEDLINE | ID: mdl-31977656
7.
Heterozygous TLR3 Mutation in Patients with Hantavirus Encephalitis.
J Clin Immunol
; 40(8): 1156-1162, 2020 11.
Article
in English
| MEDLINE | ID: mdl-32936395
8.
Outcomes for Nitazoxanide Treatment in a Case Series of Patients with Primary Immunodeficiencies and Rubella Virus-Associated Granuloma.
J Clin Immunol
; 39(1): 112-117, 2019 01.
Article
in English
| MEDLINE | ID: mdl-30680653
9.
CD40LG Triplication Associates with Immune Dysregulation and Exhaustion.
J Clin Immunol
; 43(2): 323-326, 2023 02.
Article
in English
| MEDLINE | ID: mdl-36346498
10.
Damaging heterozygous mutations in NFKB1 lead to diverse immunologic phenotypes.
J Allergy Clin Immunol
; 140(3): 782-796, 2017 Sep.
Article
in English
| MEDLINE | ID: mdl-28115215
11.
Long-term hormonal follow-up after human Puumala hantavirus infection.
Clin Endocrinol (Oxf)
; 84(1): 85-91, 2016 Jan.
Article
in English
| MEDLINE | ID: mdl-26202013
12.
ADA2 deficiency: Clonal lymphoproliferation in a subset of patients.
J Allergy Clin Immunol
; 141(4): 1534-1537.e8, 2018 04.
Article
in English
| MEDLINE | ID: mdl-29391253
13.
Truncating NFKB1 variants cause combined NLRP3 inflammasome activation and type I interferon signaling and predispose to necrotizing fasciitis.
Cell Rep Med
; 5(4): 101503, 2024 Apr 16.
Article
in English
| MEDLINE | ID: mdl-38593810
14.
Nitazoxanide May Modify the Course of Progressive Multifocal Leukoencephalopathy.
J Clin Immunol
; 38(1): 4-6, 2018 01.
Article
in English
| MEDLINE | ID: mdl-29159786
15.
Elevated cerebrospinal fluid neopterin concentration is associated with disease severity in acute Puumala hantavirus infection.
Clin Dev Immunol
; 2013: 634632, 2013.
Article
in English
| MEDLINE | ID: mdl-23983770
16.
Combined immunodeficiency and hypoglycemia associated with mutations in hypoxia upregulated 1.
J Allergy Clin Immunol
; 139(4): 1391-1393.e11, 2017 04.
Article
in English
| MEDLINE | ID: mdl-27913302
17.
Low and high serum IgG associates with respiratory infections in a young and working age population.
EBioMedicine
; 94: 104712, 2023 Aug.
Article
in English
| MEDLINE | ID: mdl-37453363
18.
Signs of general inflammation and kidney function are associated with the ocular features of acute Puumala hantavirus infection.
Scand J Infect Dis
; 44(12): 956-62, 2012 Dec.
Article
in English
| MEDLINE | ID: mdl-22830303
19.
Rubella persistence in epidermal keratinocytes and granuloma M2 macrophages in patients with primary immunodeficiencies.
J Allergy Clin Immunol
; 138(5): 1436-1439.e11, 2016 11.
Article
in English
| MEDLINE | ID: mdl-27613149
20.
52-year follow-up of a birth cohort reveals a high pneumonia incidence among young men.
ERJ Open Res
; 8(2)2022 Apr.
Article
in English
| MEDLINE | ID: mdl-35769422