Detalles de la búsqueda
1.
Partial RAG deficiency in humans induces dysregulated peripheral lymphocyte development and humoral tolerance defect with accumulation of T-bet+ B cells.
Nat Immunol
; 23(8): 1256-1272, 2022 08.
Artículo
en Inglés
| MEDLINE | ID: mdl-35902638
2.
Clinical and functional spectrum of RAC2-related immunodeficiency.
Blood
; 143(15): 1476-1487, 2024 Apr 11.
Artículo
en Inglés
| MEDLINE | ID: mdl-38194689
3.
Descent, marriage, and residence practices of a 3,800-year-old pastoral community in Central Eurasia.
Proc Natl Acad Sci U S A
; 120(36): e2303574120, 2023 09 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-37603728
4.
Clinical and Treatment History of Patients with Partial DiGeorge Syndrome and Autoimmune Cytopenia at Multiple Centers.
J Clin Immunol
; 44(2): 42, 2024 Jan 17.
Artículo
en Inglés
| MEDLINE | ID: mdl-38231436
5.
Monogenic early-onset lymphoproliferation and autoimmunity: Natural history of STAT3 gain-of-function syndrome.
J Allergy Clin Immunol
; 151(4): 1081-1095, 2023 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-36228738
6.
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
7.
Expanding the Nude SCID/CID Phenotype Associated with FOXN1 Homozygous, Compound Heterozygous, or Heterozygous Mutations.
J Clin Immunol
; 41(4): 756-768, 2021 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-33464451
8.
Simple Measurement of IgA Predicts Immunity and Mortality in Ataxia-Telangiectasia.
J Clin Immunol
; 41(8): 1878-1892, 2021 11.
Artículo
en Inglés
| MEDLINE | ID: mdl-34477998
9.
Long-term outcome of LRBA deficiency in 76 patients after various treatment modalities as evaluated by the immune deficiency and dysregulation activity (IDDA) score.
J Allergy Clin Immunol
; 145(5): 1452-1463, 2020 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-31887391
10.
Nijmegen breakage syndrome in two half sibs with peripheral T-cell lymphoma and cortical T-cell acute lymphoid leukemia.
Cent Eur J Immunol
; 45(4): 507-510, 2020.
Artículo
en Inglés
| MEDLINE | ID: mdl-33658897
11.
Heterozygous activating mutation in RAC2 causes infantile-onset combined immunodeficiency with susceptibility to viral infections.
Clin Immunol
; 205: 1-5, 2019 08.
Artículo
en Inglés
| MEDLINE | ID: mdl-31071452
12.
Correction to: Clinical and Treatment History of Patients with Partial DiGeorge Syndrome and Autoimmune Cytopenia at Multiple Centers.
J Clin Immunol
; 44(3): 72, 2024 Feb 29.
Artículo
en Inglés
| MEDLINE | ID: mdl-38421526
13.
Clinical Course and Family History of Adult Patient with Novel MYSM1 Variant.
J Clin Immunol
; 44(1): 9, 2023 12 22.
Artículo
en Inglés
| MEDLINE | ID: mdl-38129711
14.
Novel biallelic ATM mutations coexist with a mosaic form of triple X syndrome in an 11-year-old girl at remission after T cell acute leukemia.
Immunogenetics
; 70(9): 613-617, 2018 09.
Artículo
en Inglés
| MEDLINE | ID: mdl-29492593
15.
Novel Mutations in SH2D1A Gene in X-linked Lymphoproliferative Syndrome, Diagnosed After B-Cell Non-Hodgkin Lymphoma.
J Pediatr Hematol Oncol
; 39(4): e203-e206, 2017 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-28267077
16.
Clinical and immunologic phenotype associated with activated phosphoinositide 3-kinase δ syndrome 2: A cohort study.
J Allergy Clin Immunol
; 138(1): 210-218.e9, 2016 07.
Artículo
en Inglés
| MEDLINE | ID: mdl-27221134
17.
The treatment of appendicitis should be standardised. / Appendisittbehandlingen bør standardiseres.
Tidsskr Nor Laegeforen
; 142(11)2022 08 16.
Artículo
en Inglés, Noruego
| MEDLINE | ID: mdl-35997195
18.
Next generation sequencing revealed DNA ligase IV deficiency in a "developmentally normal" patient with massive brain Epstein-Barr virus-positive diffuse large B-cell lymphoma.
Clin Immunol
; 163: 108-10, 2016 Feb.
Artículo
en Inglés
| MEDLINE | ID: mdl-26774591
19.
Molecular Characteristics, Clinical and Immunologic Manifestations of 11 Children with Omenn Syndrome in East Slavs (Russia, Belarus, Ukraine).
J Clin Immunol
; 36(1): 46-55, 2016 Jan.
Artículo
en Inglés
| MEDLINE | ID: mdl-26596586
20.
Correction: A man in his forties with anal tumour and inguinal lymphadenopathy. / Rettelse: En mann i 40-årene med analtumor og lymfeknutesvulst i lysken.
Tidsskr Nor Laegeforen
; 141(9)2021 06 08.
Artículo
en Noruego
| MEDLINE | ID: mdl-34107650