Detalhe da pesquisa
1.
Dominant-activating germline mutations in the gene encoding the PI(3)K catalytic subunit p110δ result in T cell senescence and human immunodeficiency.
Nat Immunol
; 15(1): 88-97, 2014 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-24165795
2.
A Narrative Review of the Neurological Manifestations of Human Adenosine Deaminase 2 Deficiency.
J Clin Immunol
; 43(8): 1916-1926, 2023 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-37548813
3.
Human Autosomal Recessive DNA Polymerase Delta 3 Deficiency Presenting as Omenn Syndrome.
J Clin Immunol
; 44(1): 2, 2023 12 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-38099988
4.
Human adenosine deaminase 2 deficiency: A multi-faceted inborn error of immunity.
Immunol Rev
; 287(1): 62-72, 2019 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30565235
5.
FOSL2 truncating variants in the last exon cause a neurodevelopmental disorder with scalp and enamel defects.
Genet Med
; 24(12): 2475-2486, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-36197437
6.
Clinical Spectrum of Ras-Associated Autoimmune Leukoproliferative Disorder (RALD).
J Clin Immunol
; 41(1): 51-58, 2021 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33011939
7.
Intrinsic Defects in B Cell Development and Differentiation, T Cell Exhaustion and Altered Unconventional T Cell Generation Characterize Human Adenosine Deaminase Type 2 Deficiency.
J Clin Immunol
; 41(8): 1915-1935, 2021 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-34657246
8.
Hematopoietic Cell Transplantation Cures Adenosine Deaminase 2 Deficiency: Report on 30 Patients.
J Clin Immunol
; 41(7): 1633-1647, 2021 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-34324127
9.
Defining Polysaccharide Antibody Deficiency: Measurement of Anti-Pneumococcal Antibodies and Anti-Salmonella typhi Antibodies in a Cohort of Patients with Recurrent Infections.
J Clin Immunol
; 40(1): 105-113, 2020 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31705452
10.
Lessons learned from the study of human inborn errors of innate immunity.
J Allergy Clin Immunol
; 143(2): 507-527, 2019 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-30075154
11.
Human DOCK2 Deficiency: Report of a Novel Mutation and Evidence for Neutrophil Dysfunction.
J Clin Immunol
; 39(3): 298-308, 2019 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30838481
12.
Human inborn errors of the actin cytoskeleton affecting immunity: way beyond WAS and WIP.
Immunol Cell Biol
; 97(4): 389-402, 2019 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30779216
13.
Hematopoietic stem cell transplantation rescues the hematological, immunological, and vascular phenotype in DADA2.
Blood
; 130(24): 2682-2688, 2017 12 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-28974505
14.
Diagnosis of IRAK-4-deficiency by flow cytometric measurement of IκB-α degradation.
Clin Chem Lab Med
; 62(4): e102-e105, 2024 Mar 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-37929815
15.
Correction to: Chronic Aichi Virus Infection in a Patient with X-Linked Agammaglobulinemia.
J Clin Immunol
; 38(8): 938-939, 2018 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-30430354
16.
A Novel Kindred with MyD88 Deficiency.
J Clin Immunol
; 42(4): 885-888, 2022 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-35286514
17.
Functional Evaluation of an IKBKG Variant Suspected to Cause Immunodeficiency Without Ectodermal Dysplasia.
J Clin Immunol
; 37(8): 801-810, 2017 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-28993958
18.
Correction to: Hematopoietic Cell Transplantation Cures Adenosine Deaminase 2 Deficiency: Report on 30 Patients.
J Clin Immunol
; 42(7): 1580-1581, 2022 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-35499644
19.
Exome and genome sequencing for inborn errors of immunity.
J Allergy Clin Immunol
; 138(4): 957-969, 2016 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-27720020
20.
Exploration of Potential Immunodeficiency Unveils Hennekam Lymphangiectasia-Lymphedema Syndrome.
J Clin Immunol
; 41(7): 1674-1676, 2021 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-34176065