Detalles de la búsqueda
1.
Single-cell analysis of FOXP3 deficiencies in humans and mice unmasks intrinsic and extrinsic CD4+ T cell perturbations.
Nat Immunol;
22(5): 607-619, 2021 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-33833438
2.
Functional reprogramming of regulatory T cells in the absence of Foxp3.
Nat Immunol;
20(9): 1208-1219, 2019 09.
Artículo
en Inglés
| MEDLINE | ID: mdl-31384057
3.
Relevance of lymphocyte proliferation to PHA in severe combined immunodeficiency (SCID) and T cell lymphopenia.
Clin Immunol;
261: 109942, 2024 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-38367737
4.
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-31447097
5.
Excellent outcomes following hematopoietic cell transplantation for Wiskott-Aldrich syndrome: a PIDTC report.
Blood;
135(23): 2094-2105, 2020 06 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-32268350
6.
Lymphoma in Partial DiGeorge Syndrome: Report of 2 Cases.
J Pediatr Hematol Oncol;
44(3): e819-e822, 2022 Apr 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-34966099
7.
Infections in Infants with SCID: Isolation, Infection Screening, and Prophylaxis in PIDTC Centers.
J Clin Immunol;
41(1): 38-50, 2021 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-33006109
8.
Diagnostic interpretation of genetic studies in patients with primary immunodeficiency diseases: A working group report of the Primary Immunodeficiency Diseases Committee of the American Academy of Allergy, Asthma & Immunology.
J Allergy Clin Immunol;
145(1): 46-69, 2020 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-31568798
9.
Correction: Chronic Granulomatous Disease-Associated IBD Resolves and Does Not Adversely Impact Survival Following Allogeneic HCT.
J Clin Immunol;
40(8): 1211-1213, 2020 Nov.
Artículo
en Inglés
| MEDLINE | ID: mdl-32860171
10.
Responsiveness of sphingosine phosphate lyase insufficiency syndrome to vitamin B6 cofactor supplementation.
J Inherit Metab Dis;
43(5): 1131-1142, 2020 09.
Artículo
en Inglés
| MEDLINE | ID: mdl-32233035
11.
Chronic Granulomatous Disease-Associated IBD Resolves and Does Not Adversely Impact Survival Following Allogeneic HCT.
J Clin Immunol;
39(7): 653-667, 2019 10.
Artículo
en Inglés
| MEDLINE | ID: mdl-31376032
12.
PEGylated E. coli asparaginase desensitization: an effective and feasible option for pediatric patients with acute lymphoblastic leukemia who have developed hypersensitivity to pegaspargase in the absence of asparaginase Erwinia chrysanthemi availability.
Pediatr Hematol Oncol;
36(5): 277-286, 2019 Aug.
Artículo
en Inglés
| MEDLINE | ID: mdl-31296092
13.
STAT6 joins the gain-of-function club.
J Allergy Clin Immunol;
152(1): 53-55, 2023 07.
Artículo
en Inglés
| MEDLINE | ID: mdl-37192684
14.
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-27697500
15.
Phevor combines multiple biomedical ontologies for accurate identification of disease-causing alleles in single individuals and small nuclear families.
Am J Hum Genet;
94(4): 599-610, 2014 Apr 03.
Artículo
en Inglés
| MEDLINE | ID: mdl-24702956
16.
Germline mutations in NFKB2 implicate the noncanonical NF-κB pathway in the pathogenesis of common variable immunodeficiency.
Am J Hum Genet;
93(5): 812-24, 2013 Nov 07.
Artículo
en Inglés
| MEDLINE | ID: mdl-24140114
17.
Unrelated Hematopoietic Cell Transplantation in a Patient with Combined Immunodeficiency with Granulomatous Disease and Autoimmunity Secondary to RAG Deficiency.
J Clin Immunol;
36(7): 725-32, 2016 10.
Artículo
en Inglés
| MEDLINE | ID: mdl-27539235
18.
Correction to: Infections in Infants with SCID: Isolation, Infection Screening and Prophylaxis in PIDTC Centers.
J Clin Immunol;
41(2): 498-500, 2021 Feb.
Artículo
en Inglés
| MEDLINE | ID: mdl-33274413
19.
PRKDC mutations associated with immunodeficiency, granuloma, and autoimmune regulator-dependent autoimmunity.
J Allergy Clin Immunol;
135(6): 1578-88.e5, 2015 Jun.
Artículo
en Inglés
| MEDLINE | ID: mdl-25842288
20.
The heritability of gestational age in a two-million member cohort: implications for spontaneous preterm birth.
Hum Genet;
134(7): 803-8, 2015 Jul.
Artículo
en Inglés
| MEDLINE | ID: mdl-25920518