Detalhe da pesquisa
1.
Dysregulated actin dynamics in activated PI3Kδ syndrome.
Clin Immunol
; 210: 108311, 2020 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31760094
2.
A novel truncating mutation in MYD88 in a patient with BCG adenitis, neutropenia and delayed umbilical cord separation.
Clin Immunol
; 207: 40-42, 2019 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-31301515
3.
ITK deficiency presenting as autoimmune lymphoproliferative syndrome.
J Allergy Clin Immunol
; 147(2): 743-745.e1, 2021 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-32628964
4.
Severe combined immunodeficiency caused by inositol-trisphosphate 3-kinase B (ITPKB) deficiency.
J Allergy Clin Immunol
; 145(6): 1696-1699.e6, 2020 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-31987846
5.
A Case of STK4 Deficiency with Complications Evoking Mycobacterial Infection.
J Clin Immunol
; 40(4): 665-669, 2020 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-32394035
6.
Human primary immunodeficiency caused by expression of a kinase-dead p110δ mutant.
J Allergy Clin Immunol
; 143(2): 797-799.e2, 2019 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-30336224
7.
A monoallelic activating mutation in RAC2 resulting in a combined immunodeficiency.
J Allergy Clin Immunol
; 143(4): 1649-1653.e3, 2019 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30654050
8.
F-BAR domain only protein 1 (FCHO1) deficiency is a novel cause of combined immune deficiency in human subjects.
J Allergy Clin Immunol
; 143(6): 2317-2321.e12, 2019 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-30822429
9.
Rethinking newborn screening for severe combined immunodeficiency: Lessons from an international partnership for patients with primary immunodeficiencies in Pakistan.
Clin Immunol
; 202: 29-32, 2019 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-30858051
10.
An Assessment of the Relationship Between BMI and Children Undergoing Surgical Procedures: A Retrospective Study.
Child Obes
; 19(4): 249-257, 2023 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-35776521
11.
Gun violence and the voices of youth on community safety in the time of COVID-19 in East Harlem, NY: a youth participatory action research cross-sectional study.
Inj Epidemiol
; 10(Suppl 1): 34, 2023 Jul 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-37438814
12.
Engaging East Harlem, New York youth in action gun violence prevention research and child rights: a preliminary study.
Inj Epidemiol
; 10(Suppl 1): 60, 2023 Nov 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-37990236
13.
Immune dysregulation caused by homozygous mutations in CBLB.
J Clin Invest
; 132(20)2022 10 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-36006710
14.
Combined immunodeficiency with autoimmunity caused by a homozygous missense mutation in inhibitor of nuclear factor ðB kinase alpha (IKKα).
Sci Immunol
; 6(63): eabf6723, 2021 Sep 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-34533979
15.
Combined immunodeficiency due to a mutation in the γ1 subunit of the coat protein I complex.
J Clin Invest
; 131(3)2021 02 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33529166