Detalhe da pesquisa
1.
Therapeutic modalities and clinical outcomes in a large cohort with LRBA deficiency and CTLA4 insufficiency.
J Allergy Clin Immunol
; 152(6): 1634-1645, 2023 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-37595759
2.
Defective Treg generation and increased type 3 immune response in leukocyte adhesion deficiency 1.
Clin Immunol
; 253: 109691, 2023 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-37433423
3.
Atypical Localization of Eczema Discriminates DOCK8 or STAT3 Deficiencies from Atopic Dermatitis.
J Clin Immunol
; 43(8): 1882-1890, 2023 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-37507632
4.
CD4+CD25+CD127loFOXP3+ cell in food allergy: Does it predict anaphylaxis?
Allergol Immunopathol (Madr)
; 51(3): 8-14, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37169554
5.
Eight years of follow-up experience in children with mendelian susceptibility to mycobacterial disease and review of the literature.
Asian Pac J Allergy Immunol
; 41(4): 372-378, 2023 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-33638623
6.
Severe combined immunodeficiencies: Expanding the mutation spectrum in Turkey and identification of 12 novel variants.
Scand J Immunol
; 95(6): e13163, 2022 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-35303369
7.
Comparing the levels of CTLA-4-dependent biological defects in patients with LRBA deficiency and CTLA-4 insufficiency.
Allergy
; 77(10): 3108-3123, 2022 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-35491430
8.
Consensus Middle East and North Africa Registry on Inborn Errors of Immunity.
J Clin Immunol
; 41(6): 1339-1351, 2021 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-34052995
9.
CD137 deficiency causes immune dysregulation with predisposition to lymphomagenesis.
Blood
; 134(18): 1510-1516, 2019 10 31.
Artigo
em Inglês
| MEDLINE | ID: mdl-31501153
10.
Incomplete penetrance for isolated congenital asplenia in humans with mutations in translated and untranslated RPSA exons.
Proc Natl Acad Sci U S A
; 115(34): E8007-E8016, 2018 08 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-30072435
11.
22q11.2 deletion syndrome: 20 years of experience from two pediatric immunology units and review of clues for diagnosis and disease management.
Allergol Immunopathol (Madr)
; 49(1): 95-100, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-33528935
12.
Do microdeletions lead to immune deficiency?
Cent Eur J Immunol
; 45(1): 69-72, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-32425682
13.
Chronic granulamatous disease: Two decades of experience from a paediatric immunology unit in a country with high rate of consangineous marriages.
Scand J Immunol
; 89(2): e12737, 2019 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-30506560
14.
Mutations affecting the actin regulator WD repeat-containing protein 1 lead to aberrant lymphoid immunity.
J Allergy Clin Immunol
; 142(5): 1589-1604.e11, 2018 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-29751004
15.
Characteristics of the patients followed with the diagnosis of common variable immunodeficiency and the complications.
Cent Eur J Immunol
; 44(2): 119-126, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-31530980
16.
Late diagnosis of leukocyte adhesion deficiency type II and Bombay blood type in a child: a rare case report.
Cent Eur J Immunol
; 44(2): 206-209, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-31530991
17.
Neurodevelopmental evaluation of children with cyanotic congenital heart disease.
Minerva Pediatr
; 70(4): 365-370, 2018 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-26041003
18.
Dedicator of cytokinesis 8 regulates signal transducer and activator of transcription 3 activation and promotes TH17 cell differentiation.
J Allergy Clin Immunol
; 138(5): 1384-1394.e2, 2016 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-27350570
19.
Tuberculosis masked by immunodeficiency: a review of two cases diagnosed with chronic granulomatous disease.
Tuberk Toraks
; 65(1): 56-59, 2017 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-28621249
20.
The extended clinical phenotype of 64 patients with dedicator of cytokinesis 8 deficiency.
J Allergy Clin Immunol
; 136(2): 402-12, 2015 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-25724123