Results 191 to 200 of about 45,012 (247)

Hemizygous <i>IL2RG</i> Variants Impair IL-2-Induced STAT5 Phosphorylation and Transcriptional Activity Causing X-Linked Severe Combined Immunodeficiency. [PDF]

Appl Clin Genet
Zhang N, Sang YL, Zhu W, Wang YR, Yu YY, Chen YH, Du J, He WB, Tan YQ, Wang FY.   +9 more
europepmc   +1 more source

788 Haploidentical T cell-depleted bone marrow transplantation into a premature infant with X-linked severe combined immunodeficiency (X-SCID)

, 2000
Steven S. W. Shaw
openalex   +1 more source

Allergic manifestations in inborn errors of immunity: a systematic scoping review. [PDF]

Front Immunol
Marbet L, Gujer E, Münger MH, Killian MP, Mauracher AA, Soomann M, Trück J, Pachlopnik Schmid J.   +7 more
europepmc   +1 more source

Positive Family History, Infection, Low Absolute Lymphocyte Count (ALC), and Absent Thymic Shadow: Diagnostic Clues for All Molecular Forms of Severe Combined Immunodeficiency (SCID)

, 2015
Laurie M. McWilliams, Mary Dell Railey, Rebecca H. Buckley   +2 more
openalex   +1 more source

Current infectious disease management challenges in inborn errors of immunity. [PDF]

Ann Clin Microbiol Antimicrob
Zheng S, Lowe DM.
europepmc   +1 more source

Editorial: Special Issue "Genetic Newborn Screening". [PDF]

Genes (Basel)
Nishio H, Awano H.
europepmc   +1 more source

A novel hypomorphic mutation in <i>IL2RG</i> associated with severe interstitial lung disease. [PDF]

J Allergy Clin Immunol Glob
Liu H, Yang H, Xu H, Jiang M, Wen X, Zhang X, Zhao S.   +6 more
europepmc   +1 more source

Identification of Heterozygous Single- and Multi-exon Deletions in by Whole Exome Sequencing [PDF]

core   +1 more source

Epstein-Barr Virus-Associated Smooth Muscle Tumors in inborn Errors of Immunity: A single-center Case Series and Literature Overview. [PDF]

J Clin Immunol
Aliyeva G, Bajin IY, Orhan D, Kutluk T, Kösemehmetoğlu K, Cagdas D.   +5 more
europepmc   +1 more source

Pregnancy complications in women with an inborn error of immunity: a systematic review. [PDF]

Curr Opin Allergy Clin Immunol
Yakut B, Knaapen ACR, Cui XY, van Hagen PM, Dalm VASH, Mulders AGMGJ, Rombach SM.   +6 more
europepmc   +1 more source