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1.
Heterozygous activating mutation in RAC2 causes infantile-onset combined immunodeficiency with susceptibility to viral infections.
Clin Immunol
; 205: 1-5, 2019 08.
Article
in English
| MEDLINE | ID: mdl-31071452
2.
Clinical Course and Family History of Adult Patient with Novel MYSM1 Variant.
J Clin Immunol
; 44(1): 9, 2023 12 22.
Article
in English
| MEDLINE | ID: mdl-38129711
3.
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.
Article
in English
| MEDLINE | ID: mdl-29492593
4.
Disease-associated AIOLOS variants lead to immune deficiency/dysregulation by haploinsufficiency and redefine AIOLOS functional domains.
J Clin Invest
; 134(3)2024 Feb 01.
Article
in English
| MEDLINE | ID: mdl-38015619
5.
Novel LRBA Mutation and Possible Germinal Mosaicism in a Slavic Family.
J Clin Immunol
; 38(4): 471-474, 2018 05.
Article
in English
| MEDLINE | ID: mdl-29804237
6.
Variable CD18 expression in a 22-year-old female with leukocyte adhesion deficiency I: Clinical case and literature review.
Clin Case Rep
; 11(8): e7791, 2023 Aug.
Article
in English
| MEDLINE | ID: mdl-37601427
7.
Geographical Distribution, Incidence, Malignancies, and Outcome of 136 Eastern Slavic Patients With Nijmegen Breakage Syndrome and NBN Founder Variant c.657_661del5.
Front Immunol
; 11: 602482, 2020.
Article
in English
| MEDLINE | ID: mdl-33488600
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