Detalles de la búsqueda
1.
Clinical and functional spectrum of RAC2-related immunodeficiency.
Blood
; 143(15): 1476-1487, 2024 Apr 11.
Artículo
en Inglés
| MEDLINE | ID: mdl-38194689
2.
Role of Skewed X-Chromosome Inactivation in Common Variable Immunodeficiency.
J Clin Immunol
; 44(2): 54, 2024 Jan 24.
Artículo
en Inglés
| MEDLINE | ID: mdl-38265673
3.
Molecular Challenges in the Diagnosis of X-Linked Chronic Granulomatous Disease: CNVs, Intronic Variants, Skewed X-Chromosome Inactivation, and Gonosomal Mosaicism.
J Clin Immunol
; 43(8): 1953-1963, 2023 11.
Artículo
en Inglés
| MEDLINE | ID: mdl-37597073
4.
Reference values for interleukin-6 in the amniotic fluid of asymptomatic pregnant women.
Acta Obstet Gynecol Scand
; 102(4): 480-485, 2023 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-36906815
5.
Impact of placental malaria on maternal, placental and fetal cord responses and its role in pregnancy outcomes in women from Blue Nile State, Sudan.
Malar J
; 20(1): 35, 2021 Jan 09.
Artículo
en Inglés
| MEDLINE | ID: mdl-33422078
6.
Serum CXCL13, BAFF, IL-21 and IL-22 levels are related to disease activity and lymphocyte profile in primary Sjögren's syndrome.
Clin Exp Rheumatol
; 39 Suppl 133(6): 131-139, 2021.
Artículo
en Inglés
| MEDLINE | ID: mdl-34919042
7.
Unexpected relevant role of gene mosaicism in patients with primary immunodeficiency diseases.
J Allergy Clin Immunol
; 143(1): 359-368, 2019 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-30273710
8.
Th1-skewed profile and excessive production of proinflammatory cytokines in a NFKB1-deficient patient with CVID and severe gastrointestinal manifestations.
Clin Immunol
; 195: 49-58, 2018 10.
Artículo
en Inglés
| MEDLINE | ID: mdl-30063981
9.
TNFAIP3 haploinsufficiency is the cause of autoinflammatory manifestations in a patient with a deletion of 13Mb on chromosome 6.
Clin Immunol
; 191: 44-51, 2018 06.
Artículo
en Inglés
| MEDLINE | ID: mdl-29572183
10.
Early Versus Late Diagnosis of Complement Factor I Deficiency: Clinical Consequences Illustrated in Two Families with Novel Homozygous CFI Mutations.
J Clin Immunol
; 37(8): 781-789, 2017 Nov.
Artículo
en Inglés
| MEDLINE | ID: mdl-28942469
11.
Novel Mutations Causing C5 Deficiency in Three North-African Families.
J Clin Immunol
; 36(4): 388-96, 2016 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-27026170
12.
Serum protein electrophoresis and complement deficiencies: a veteran but very versatile test in clinical laboratories.
Clin Chem Lab Med
; 57(8): e179-e182, 2019 07 26.
Artículo
en Inglés
| MEDLINE | ID: mdl-30721140
13.
Catastrophic Streptococcus pyogenes Disease: A Personalized Approach Based on Phenotypes and Treatable Traits.
Antibiotics (Basel)
; 13(2)2024 Feb 15.
Artículo
en Inglés
| MEDLINE | ID: mdl-38391573
14.
Case Report: X-Linked SASH3 Deficiency Presenting as a Common Variable Immunodeficiency.
Front Immunol
; 13: 881206, 2022.
Artículo
en Inglés
| MEDLINE | ID: mdl-35464398
15.
Common Variable Immunodeficiency and Neurodevelopmental Delay Due to a 13Mb Deletion on Chromosome 4 Including the NFKB1 Gene: A Case Report.
Front Immunol
; 13: 897975, 2022.
Artículo
en Inglés
| MEDLINE | ID: mdl-35784294
16.
Detection and evolutionary dynamics of somatic FAS variants in autoimmune lymphoproliferative syndrome: Diagnostic implications.
Front Immunol
; 13: 1014984, 2022.
Artículo
en Inglés
| MEDLINE | ID: mdl-36466883
17.
Case report: Cytokine hemoadsorption in a case of hemophagocytic lymphohistiocytosis secondary to extranodal NK/T-cell lymphoma.
Front Med (Lausanne)
; 9: 925751, 2022.
Artículo
en Inglés
| MEDLINE | ID: mdl-36045925
18.
Association of HLA-B∗35 and moderate or severe cutaneous reactions secondary to benznidazole treatment in chronic chagas disease.
Clin Microbiol Infect
; 28(6): 881.e1-881.e5, 2022 Jun.
Artículo
en Inglés
| MEDLINE | ID: mdl-34863919
19.
Cytokine Hemoadsorption as Rescue Therapy for Critically Ill Patients With SARS-CoV-2 Pneumonia With Severe Respiratory Failure and Hypercytokinemia.
Front Med (Lausanne)
; 8: 779038, 2021.
Artículo
en Inglés
| MEDLINE | ID: mdl-35083241
20.
Case Report: Partial Uniparental Disomy Unmasks a Novel Recessive Mutation in the LYST Gene in a Patient With a Severe Phenotype of Chédiak-Higashi Syndrome.
Front Immunol
; 12: 625591, 2021.
Artículo
en Inglés
| MEDLINE | ID: mdl-33868243