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1.
Biallelic human SHARPIN loss of function induces autoinflammation and immunodeficiency.
Nat Immunol
; 25(5): 764-777, 2024 May.
Article
in English
| MEDLINE | ID: mdl-38609546
2.
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.
Article
in English
| MEDLINE | ID: mdl-24165795
3.
Natural history study of patients with familial platelet disorder with associated myeloid malignancy.
Blood
; 142(25): 2146-2158, 2023 12 21.
Article
in English
| MEDLINE | ID: mdl-37738626
4.
IKAROS gain of function disease: Allogeneic hematopoietic cell transplantation experience and expanded clinical phenotypes.
Clin Immunol
; 260: 109922, 2024 03.
Article
in English
| MEDLINE | ID: mdl-38320737
5.
TCF3 haploinsufficiency defined by immune, clinical, gene-dosage, and murine studies.
J Allergy Clin Immunol
; 152(3): 736-747, 2023 09.
Article
in English
| MEDLINE | ID: mdl-37277074
6.
Subcutaneous panniculitis-like T-cell lymphoma in two unrelated individuals with BENTA disease.
Clin Immunol
; 255: 109732, 2023 10.
Article
in English
| MEDLINE | ID: mdl-37562721
7.
Germline IKAROS dimerization haploinsufficiency causes hematologic cytopenias and malignancies.
Blood
; 137(3): 349-363, 2021 01 21.
Article
in English
| MEDLINE | ID: mdl-32845957
8.
SASH3 variants cause a novel form of X-linked combined immunodeficiency with immune dysregulation.
Blood
; 138(12): 1019-1033, 2021 09 23.
Article
in English
| MEDLINE | ID: mdl-33876203
9.
Cushing syndrome and glucocorticoids: T-cell lymphopenia, apoptosis, and rescue by IL-21.
J Allergy Clin Immunol
; 149(1): 302-314, 2022 01.
Article
in English
| MEDLINE | ID: mdl-34089750
10.
Clinical exome sequencing of 1000 families with complex immune phenotypes: Toward comprehensive genomic evaluations.
J Allergy Clin Immunol
; 150(4): 947-954, 2022 10.
Article
in English
| MEDLINE | ID: mdl-35753512
11.
CARD9 Expression Pattern, Gene Dosage, and Immunodeficiency Phenotype Revisited.
J Clin Immunol
; 42(2): 336-349, 2022 02.
Article
in English
| MEDLINE | ID: mdl-34791587
12.
Clinical Manifestations, Mutational Analysis, and Immunological Phenotype in Patients with RAG1/2 Mutations: First Cases Series from Mexico and Description of Two Novel Mutations.
J Clin Immunol
; 41(6): 1291-1302, 2021 08.
Article
in English
| MEDLINE | ID: mdl-33954879
13.
Common Variable Immunodeficiency, Autoimmune Hemolytic Anemia, and Pancytopenia Associated With a Defect in IKAROS.
J Pediatr Hematol Oncol
; 43(3): e351-e357, 2021 04 01.
Article
in English
| MEDLINE | ID: mdl-33122583
14.
Patients With Natural Killer (NK) Cell Chronic Active Epstein-Barr Virus Have Immature NK Cells and Hyperactivation of PI3K/Akt/mTOR and STAT1 Pathways.
J Infect Dis
; 222(7): 1170-1179, 2020 09 01.
Article
in English
| MEDLINE | ID: mdl-32386415
15.
Correction to: A Nonsense N -Terminus NFKB2 Mutation Leading to Haploinsufficiency in a Patient with a Predominantly Antibody Deficiency.
J Clin Immunol
; 40(8): 1102, 2020 Nov.
Article
in English
| MEDLINE | ID: mdl-32901356
16.
A Nonsense N -Terminus NFKB2 Mutation Leading to Haploinsufficiency in a Patient with a Predominantly Antibody Deficiency.
J Clin Immunol
; 40(8): 1093-1101, 2020 11.
Article
in English
| MEDLINE | ID: mdl-32813180
17.
STAT5B: A Differential Regulator of the Life and Death of CD4+ Effector Memory T Cells.
J Immunol
; 200(1): 110-118, 2018 01 01.
Article
in English
| MEDLINE | ID: mdl-29187589
18.
Novel nonsense gain-of-function NFKB2 mutations associated with a combined immunodeficiency phenotype.
Blood
; 130(13): 1553-1564, 2017 09 28.
Article
in English
| MEDLINE | ID: mdl-28778864
19.
Aberrant tRNA processing causes an autoinflammatory syndrome responsive to TNF inhibitors.
Ann Rheum Dis
; 77(4): 612-619, 2018 04.
Article
in English
| MEDLINE | ID: mdl-29358286
20.
Early-onset lymphoproliferation and autoimmunity caused by germline STAT3 gain-of-function mutations.
Blood
; 125(4): 591-9, 2015 Jan 22.
Article
in English
| MEDLINE | ID: mdl-25359994