Detalhe da pesquisa
1.
Human MCTS1-dependent translation of JAK2 is essential for IFN-γ immunity to mycobacteria.
Cell
; 186(23): 5114-5134.e27, 2023 11 09.
Artigo
Inglês
| MEDLINE | ID: mdl-37875108
2.
Biallelic human SHARPIN loss of function induces autoinflammation and immunodeficiency.
Nat Immunol
; 25(5): 764-777, 2024 May.
Artigo
Inglês
| MEDLINE | ID: mdl-38609546
3.
Bi-allelic loss-of-function variants in PPFIBP1 cause a neurodevelopmental disorder with microcephaly, epilepsy, and periventricular calcifications.
Am J Hum Genet
; 109(8): 1421-1435, 2022 08 04.
Artigo
Inglês
| MEDLINE | ID: mdl-35830857
4.
Delayed Diagnosis of Chronic Necrotizing Granulomatous Skin Lesions due to TAP2 Deficiency.
J Clin Immunol
; 43(1): 217-228, 2023 01.
Artigo
Inglês
| MEDLINE | ID: mdl-36227411
5.
Clinical, Immunological, and Genetic Findings in Iranian Patients with MHC-II Deficiency: Confirmation of c.162delG RFXANK Founder Mutation in the Iranian Population.
J Clin Immunol
; 43(8): 1941-1952, 2023 Nov.
Artigo
Inglês
| MEDLINE | ID: mdl-37584719
6.
Maize growth response to different Bacillus strains isolated from a salt-marshland area under salinity stress.
BMC Plant Biol
; 22(1): 367, 2022 Jul 26.
Artigo
Inglês
| MEDLINE | ID: mdl-35879654
7.
Hematologically important mutations: X-linked chronic granulomatous disease (fourth update).
Blood Cells Mol Dis
; 90: 102587, 2021 09.
Artigo
Inglês
| MEDLINE | ID: mdl-34175765
8.
Hematologically important mutations: The autosomal forms of chronic granulomatous disease (third update).
Blood Cells Mol Dis
; 92: 102596, 2021 12.
Artigo
Inglês
| MEDLINE | ID: mdl-34547651
9.
Phenotypic analysis of pyrin-associated autoinflammation with neutrophilic dermatosis patients during treatment.
Rheumatology (Oxford)
; 60(11): 5436-5446, 2021 11 03.
Artigo
Inglês
| MEDLINE | ID: mdl-33693560
10.
A report of pregnancy following ICSI in one of two sisters with familiar primary ciliary dyskinesia.
Andrologia
; 53(7): e14080, 2021 Aug.
Artigo
Inglês
| MEDLINE | ID: mdl-33966302
11.
A novel homozygous LRRK1 stop gain mutation in a patient suspected with osteosclerotic metaphyseal dysplasia.
Ann Hum Genet
; 84(1): 102-106, 2020 01.
Artigo
Inglês
| MEDLINE | ID: mdl-31571209
12.
Novel CYBA mutation in a family with BCGitis.
Acta Microbiol Immunol Hung
; 67(1): 56-60, 2019 Dec 18.
Artigo
Inglês
| MEDLINE | ID: mdl-31847541
13.
Two Novel Biallelic RASGRP1 Mutations Presenting with Immunodeficiency, Hodgkin's Lymphoma, and Autoimmunity.
J Clin Immunol
; 42(6): 1160-1163, 2022 08.
Artigo
Inglês
| MEDLINE | ID: mdl-35593944
14.
Adenosine Deaminase (ADA) Deficiency: Report of Six New Cases and Reappraisal of Cutaneous Hypermelanosis as an Early Feature.
J Clin Immunol
; 42(8): 1618-1621, 2022 11.
Artigo
Inglês
| MEDLINE | ID: mdl-35906326
15.
Functional Evaluation of an IKBKG Variant Suspected to Cause Immunodeficiency Without Ectodermal Dysplasia.
J Clin Immunol
; 37(8): 801-810, 2017 Nov.
Artigo
Inglês
| MEDLINE | ID: mdl-28993958
16.
Novel Mutation of ZAP-70-related Combined Immunodeficiency: First Case from the National Iranian Registry and Review of the Literature.
Immunol Invest
; 46(1): 70-79, 2017 Jan.
Artigo
Inglês
| MEDLINE | ID: mdl-27759478
17.
Purification and Evaluation of Polysaccharide Intercellular Adhesion (PIA) Antigen from Staphylococcus epidermidis.
Curr Microbiol
; 73(5): 611-617, 2016 Nov.
Artigo
Inglês
| MEDLINE | ID: mdl-27460584
18.
Ocular Manifestations of Chronic Granulomatous Disease: First Report of Coats' Disease and Literature Review.
J Clin Immunol
; 40(6): 940-947, 2020 08.
Artigo
Inglês
| MEDLINE | ID: mdl-32638195
19.
A Novel STK4 Mutation Presenting with Juvenile Idiopathic Arthritis and Epidermodysplasia Verruciformis.
J Clin Immunol
; 39(1): 11-14, 2019 01.
Artigo
Inglês
| MEDLINE | ID: mdl-30612220
20.
Auto-inflammation in a Patient with a Novel Homozygous OTULIN Mutation.
J Clin Immunol
; 39(2): 138-141, 2019 02.
Artigo
Inglês
| MEDLINE | ID: mdl-30796585