Detalhe da pesquisa
1.
The Role of Interferon-γ in Autoimmune Polyendocrine Syndrome Type 1.
N Engl J Med
; 390(20): 1873-1884, 2024 May 30.
Artigo
Inglês
| MEDLINE | ID: mdl-38810185
2.
Interrupting an IFN-γ-dependent feedback loop in the syndrome of pyogenic arthritis with pyoderma gangrenosum and acne.
Ann Rheum Dis
; 83(6): 787-798, 2024 May 15.
Artigo
Inglês
| MEDLINE | ID: mdl-38408849
3.
Somatic Mutations in UBA1 and Severe Adult-Onset Autoinflammatory Disease.
N Engl J Med
; 383(27): 2628-2638, 2020 12 31.
Artigo
Inglês
| MEDLINE | ID: mdl-33108101
4.
Gain-of-function mutations in ALPK1 cause an NF-κB-mediated autoinflammatory disease: functional assessment, clinical phenotyping and disease course of patients with ROSAH syndrome.
Ann Rheum Dis
; 81(10): 1453-1464, 2022 10.
Artigo
Inglês
| MEDLINE | ID: mdl-35868845
5.
Histopathological features of fibrous cephalic plaques in tuberous sclerosis complex.
Histopathology
; 79(4): 619-628, 2021 Oct.
Artigo
Inglês
| MEDLINE | ID: mdl-33882161
6.
Vibratory Urticaria Associated with a Missense Variant in ADGRE2.
N Engl J Med
; 374(7): 656-63, 2016 Feb 18.
Artigo
Inglês
| MEDLINE | ID: mdl-26841242
7.
Recurrent fevers, progressive lipodystrophy, and annular plaques in a child.
J Am Acad Dermatol
; 80(1): 291-295, 2019 Jan.
Artigo
Inglês
| MEDLINE | ID: mdl-30205133
8.
Recurrent Mutations in the Basic Domain of TWIST2 Cause Ablepharon Macrostomia and Barber-Say Syndromes.
Am J Hum Genet
; 97(1): 99-110, 2015 Jul 02.
Artigo
Inglês
| MEDLINE | ID: mdl-26119818
9.
APECED Rash as the First Manifestation of APECED Syndrome.
J Clin Immunol
; 43(8): 1774-1777, 2023 11.
Artigo
Inglês
| MEDLINE | ID: mdl-37665538
10.
Fibrous cephalic plaques in tuberous sclerosis complex.
J Am Acad Dermatol
; 78(4): 717-724, 2018 04.
Artigo
Inglês
| MEDLINE | ID: mdl-29258863
11.
Recurrent scarring papulovesicular lesions on sun-exposed skin in a 22-year-old man.
J Am Acad Dermatol
; 78(3): 637-642, 2018 03.
Artigo
Inglês
| MEDLINE | ID: mdl-28964535
12.
Transcriptome Assessment of Erythema Migrans Skin Lesions in Patients With Early Lyme Disease Reveals Predominant Interferon Signaling.
J Infect Dis
; 217(1): 158-167, 2017 12 27.
Artigo
Inglês
| MEDLINE | ID: mdl-29099929
13.
Pharmacological Blockade of the Chemokine Receptor CCR1 Protects Mice from Systemic Candidiasis of Hematogenous Origin.
Antimicrob Agents Chemother
; 61(3)2017 03.
Artigo
Inglês
| MEDLINE | ID: mdl-27993850
14.
Early-onset stroke and vasculopathy associated with mutations in ADA2.
N Engl J Med
; 370(10): 911-20, 2014 Mar 06.
Artigo
Inglês
| MEDLINE | ID: mdl-24552284
15.
Corrigendum to: Transcriptome Assessment of Erythema Migrans Skin Lesions in Patients With Early Lyme Disease Reveals Predominant Interferon Signaling.
J Infect Dis
; 223(2): 352, 2021 02 03.
Artigo
Inglês
| MEDLINE | ID: mdl-32966578
16.
Diffuse atrophic papules and plaques, intermittent abdominal pain, paresthesias, and cardiac abnormalities in a 55-year-old woman.
J Am Acad Dermatol
; 75(6): 1274-1277, 2016 Dec.
Artigo
Inglês
| MEDLINE | ID: mdl-27717619
17.
CX3CR1 is dispensable for control of mucosal Candida albicans infections in mice and humans.
Infect Immun
; 83(3): 958-65, 2015 Mar.
Artigo
Inglês
| MEDLINE | ID: mdl-25547797
18.
Episodic angioedema with eosinophilia (Gleich syndrome) is a multilineage cell cycling disorder.
Haematologica
; 100(3): 300-7, 2015 Mar.
Artigo
Inglês
| MEDLINE | ID: mdl-25527564
19.
Palmoplantar pustules and osteoarticular pain in a 42-year-old woman.
J Am Acad Dermatol
; 72(3): 550-3, 2015 Mar.
Artigo
Inglês
| MEDLINE | ID: mdl-25127881
20.
Histologic and Immunohistochemical Features of the Skin Lesions in CANDLE Syndrome.
Am J Dermatopathol
; 37(7): 517-22, 2015 Jul.
Artigo
Inglês
| MEDLINE | ID: mdl-26091509