Detalhe da pesquisa
1.
Heterozygous FOXN1 Variants Cause Low TRECs and Severe T Cell Lymphopenia, Revealing a Crucial Role of FOXN1 in Supporting Early Thymopoiesis.
Am J Hum Genet
; 105(3): 549-561, 2019 09 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-31447097
2.
The pulmonary effects of STAT3 deficiency.
J Allergy Clin Immunol
; 152(2): 368-370, 2023 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-37331431
3.
The Immune Status of Patients with 16p11.2 Deletion Syndrome.
J Clin Immunol
; 43(8): 1792-1795, 2023 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-37814083
4.
Dominant-negative loss of function arises from a second, more frequent variant within the SAND domain of autoimmune regulator (AIRE).
J Autoimmun
; 88: 114-120, 2018 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-29129473
5.
Registries are shaping how we think about primary immunodeficiency diseases.
J Allergy Clin Immunol
; 149(6): 1943-1945, 2022 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-35487306
6.
Long-term outcomes of 176 patients with X-linked hyper-IgM syndrome treated with or without hematopoietic cell transplantation.
J Allergy Clin Immunol
; 139(4): 1282-1292, 2017 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-27697500
7.
Cytotoxic T-Lymphocyte-Associated Antigen 4 Haploinsufficiency Mimics Difficult-to-Treat Inflammatory Bowel Disease.
Clin Gastroenterol Hepatol
; 20(4): e696-e702, 2022 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33965572
8.
Newborn screening for severe combined immunodeficiency in 11 screening programs in the United States.
JAMA
; 312(7): 729-38, 2014 Aug 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-25138334
9.
Composition of the CD27+ Memory-B-Cell Compartment Delineates Immunoglobulin Deficiency Endotypes.
Res Sq
; 2024 Jan 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-38260264
10.
Autophagy-associated immune dysregulation and hyperplasia in a patient with compound heterozygous mutations in ATG9A.
Autophagy
; 19(2): 678-691, 2023 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-35838483
11.
"Common variable immunodeficiency: Challenges for diagnosis".
J Immunol Methods
; 509: 113342, 2022 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-36027932
12.
Fluctuations in quality of life and immune responses during intravenous immunoglobulin infusion cycles.
PLoS One
; 17(3): e0265852, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35316278
13.
Vaccine strain varicella-zoster virus-induced central nervous system vasculopathy as the presenting feature of DOCK8 deficiency.
J Allergy Clin Immunol
; 133(4): 1225-1227, 2014 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-24418481
14.
Expression and activation of the steroidogenic enzyme CYP11A1 is associated with IL-13 production in T cells from peanut allergic children.
PLoS One
; 15(6): e0233563, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-32497050
15.
Coding-region alterations in BTK do not universally cause X-linked agammaglobulinemia.
J Allergy Clin Immunol
; 132(5): 1246-8, 2013 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-24001798
16.
Diagnosis and evaluation of primary panhypogammaglobulinemia: a molecular and genetic challenge.
J Allergy Clin Immunol
; 131(6): 1717-8, 2013 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-23726535
17.
Vasculitis in a Child With the Hyper-IgM Variant of Ataxia-Telangiectasia.
Front Pediatr
; 7: 390, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-31709200
18.
Biallelic mutations in DNA ligase 1 underlie a spectrum of immune deficiencies.
J Clin Invest
; 128(12): 5489-5504, 2018 12 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-30395541
19.
Recurrent rhinovirus infections in a child with inherited MDA5 deficiency.
J Exp Med
; 214(7): 1949-1972, 2017 Jul 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-28606988
20.
Germline hypomorphic CARD11 mutations in severe atopic disease.
Nat Genet
; 49(8): 1192-1201, 2017 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-28628108