Results 41 to 50 of about 167,593 (141)

14 Years after Discovery: Clinical Follow-up on 15 Patients with Inducible Co-Stimulator Deficiency

Frontiers in Immunology, 2017
BackgroundInducible co-stimulator (ICOS) deficiency was the first monogenic defect reported to cause common variable immunodeficiency (CVID)-like disease in 2003.
Johanna Schepp, Janet Chou, Andrea Skrabl-Baumgartner, Peter D. Arkwright, Karin R. Engelhardt, Sophie Hambleton, Sophie Hambleton, Tomohiro Morio, Ekkehard Röther, Klaus Warnatz, Raif Geha, Bodo Grimbacher, Bodo Grimbacher   +12 more
doaj   +1 more source

Screening for severe combined immunodeficiency in neonates

Clinical Epidemiology, 2013
Brian T Kelly,1 Jonathan S Tam,1 James W Verbsky,1,2 John M Routes1,2 1Department of Pediatrics, 2Department of Microbiology and Molecular Genetics, Medical College of Wisconsin, Milwaukee, WI, USA Abstract: Severe combined immunodeficiency (SCID) is a ...
Kelly BT, Tam JS, Verbsky JW, Routes JM
doaj  

Combined immunodeficiency and impaired PI3K signaling in a patient with biallelic LCP2 variants [PDF]

, 2023
Emily S.J. Edwards, Samar Ojaimi, James Ngui, Go Hun Seo, Jihye Kim, Sanjeev Chunilal, Deborah Yablonski, Robyn E. O’Hehir, Menno C. van Zelm   +8 more
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iPSC-Based Modeling of RAG2 Severe Combined Immunodeficiency Reveals Multiple T Cell Developmental Arrests [PDF]

, 2020
Maria Themeli, Amiet Chhatta, Hester Boersma, Henk Jan Prins, Martijn Cordes, Edwin de Wilt, Aïda Shahrabi Farahani, Bart Vandekerckhove, Mirjam van der Burg, Rob C. Hoeben, Frank J. T. Staal, Harald Mikkers   +11 more
openalex   +1 more source

Case report: Advanced age at transplantation and pre-emptive treatment with dupilumab in DOCK8 deficiency

Frontiers in Immunology
Dedicator of cytokinesis 8 (DOCK8) deficiency is a combined immunodeficiency (CID) due to biallelic mutations in the gene encoding DOCK8. Major clinical phenomena are recurrent severe infections of the lungs and skin, atopic eczema, and predisposition to
Sophia Trombello, Sophia Trombello, Andrea Jarisch, Andre Willasch, Eva Rettinger, Julia Fekadu-Siebald, Dirk Holzinger, Dirk Holzinger, Roland Adelmann, Peter Bader, Shahrzad Bakhtiar   +10 more
doaj   +1 more source

Jacobsen’s syndrome: case report

Аллергология и Иммунология в Педиатрии
Introduction. Jacobsen syndrome (JS) is a rare genetic disease associated with the deletion of chromosome 11q, characterized by multiple malformations, hematological and immune disorders. The development of immunodeficiency in JS is often underestimated,
L. Yu. Barycheva, L. I. Bachieva, N. A. Koz’mova   +2 more
doaj   +1 more source

Pre-emptive Allogeneic Hematopoietic Stem Cell Transplantation in Ataxia Telangiectasia

Frontiers in Immunology, 2018
Ataxia telangiectasia (A-T) is a primary immunodeficiency with mutations in the gene encoding the A-T mutated (ATM) protein that interacts with immune, hematopoietic, and endocrine targets resulting in broad multi-systemic clinical manifestations with a ...
Shahrzad Bakhtiar, Sandra Woelke, Sabine Huenecke, Matthias Kieslich, Alexander Malcolm Taylor, Ralf Schubert, Stefan Zielen, Peter Bader   +7 more
doaj   +1 more source

A novel mutation in the ADA gene causing severe combined immunodeficiency in an Arab patient: a case report

Journal of Medical Case Reports, 2009
Introduction About 20% of the cases of human severe combined immunodeficiency are the result of the child being homozygous for defective genes encoding the enzyme adenosine deaminase.
Hellani Ali, Almassri Nidal, Abu-Amero Khaled K   +2 more
doaj   +1 more source

Severe Combined Immunodeficiency due to NHEJ1 Deficiency [PDF]

, 2020
National Cancer Institute
openalex   +1 more source

Combined immunodeficiency due to MALT1 deficiency [PDF]

, 2020
Inserm
openalex   +1 more source