Detalhe da pesquisa
1.
ß-Actin G342D as a Cause of NK Cell Deficiency Impairing Lytic Synapse Termination.
J Immunol
; 212(6): 962-973, 2024 Mar 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-38315012
2.
Human PLCG2 haploinsufficiency results in a novel natural killer cell immunodeficiency.
J Allergy Clin Immunol
; 153(1): 216-229, 2024 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37714437
3.
Clinical Practice Guidelines for the Immunological Management of Chromosome 22q11.2 Deletion Syndrome and Other Defects in Thymic Development.
J Clin Immunol
; 43(2): 247-270, 2023 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36648576
4.
Absent B cells, agammaglobulinemia, and hypertrophic cardiomyopathy in folliculin-interacting protein 1 deficiency.
Blood
; 137(4): 493-499, 2021 01 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-32905580
5.
FOXI3 haploinsufficiency contributes to low T-cell receptor excision circles and T-cell lymphopenia.
J Allergy Clin Immunol
; 150(6): 1556-1562, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-35987349
6.
Genetic errors of immunity distinguish pediatric nonmalignant lymphoproliferative disorders.
J Allergy Clin Immunol
; 149(2): 758-766, 2022 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34329649
7.
Bi-allelic Variants in TONSL Cause SPONASTRIME Dysplasia and a Spectrum of Skeletal Dysplasia Phenotypes.
Am J Hum Genet
; 104(3): 422-438, 2019 03 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-30773277
8.
Identifying Genes Whose Mutant Transcripts Cause Dominant Disease Traits by Potential Gain-of-Function Alleles.
Am J Hum Genet
; 103(2): 171-187, 2018 08 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-30032986
9.
Heterozygous Truncating Variants in POMP Escape Nonsense-Mediated Decay and Cause a Unique Immune Dysregulatory Syndrome.
Am J Hum Genet
; 102(6): 1126-1142, 2018 06 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-29805043
10.
Delineating the molecular and phenotypic spectrum of the SETD1B-related syndrome.
Genet Med
; 23(11): 2122-2137, 2021 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-34345025
11.
CD137 deficiency causes immune dysregulation with predisposition to lymphomagenesis.
Blood
; 134(18): 1510-1516, 2019 10 31.
Artigo
em Inglês
| MEDLINE | ID: mdl-31501153
12.
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.
Artigo
em Inglês
| MEDLINE | ID: mdl-31568798
13.
Genetic and mechanistic diversity in pediatric hemophagocytic lymphohistiocytosis.
Blood
; 132(1): 89-100, 2018 07 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-29632024
14.
Correction to: Clinical Practice Guidelines for the Immunological Management of Chromosome 22q11.2 Deletion Syndrome and Other Defects in Thymic Development.
J Clin Immunol
; 44(2): 53, 2024 Jan 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-38252398
15.
Ruxolitinib partially reverses functional natural killer cell deficiency in patients with signal transducer and activator of transcription 1 (STAT1) gain-of-function mutations.
J Allergy Clin Immunol
; 141(6): 2142-2155.e5, 2018 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-29111217
16.
Mutations in PI3K110δ cause impaired natural killer cell function partially rescued by rapamycin treatment.
J Allergy Clin Immunol
; 142(2): 605-617.e7, 2018 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-29330011
17.
Phenotypic Variability of SOCS1 Haploinsufficiency.
J Clin Immunol
; 43(5): 902-906, 2023 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-36890397
18.
The role of genomic approaches in diagnosis and management of primary immunodeficiency.
Curr Opin Pediatr
; 30(6): 791-797, 2018 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-30234646
19.
Hepatobiliary Dysfunction and Disseminated Intravascular Coagulation Increase Risk of Mortality in Pediatric Hemophagocytic Lymphohistiocytosis.
Pediatr Crit Care Med
; 19(10): e522-e530, 2018 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-30113519
20.
Update on the use of immunoglobulin in human disease: A review of evidence.
J Allergy Clin Immunol
; 139(3S): S1-S46, 2017 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-28041678