Article
Inherited SLP76 deficiency in humans causes severe combined immunodeficiency, neutrophil and platelet defects.
The Journal of experimental medicine - 1 Mar 2021
Lev Atar, Lee Yu Nee, Sun Guangping, Hallumi Enas, Simon Amos J, Zrihen Keren S, Levy Shiran, Beit Halevi Tal, Papazian Maria, Shwartz Neta, Somekh Ido, Levy-Mendelovich Sarina, Wolach Baruch, Gavrieli Ronit, Vernitsky Helly, Barel Ortal, Javasky Elisheva, Stauber Tali, Ma Chi A, Zhang Yuan, Amariglio Ninette, Rechavi Gideon, Hendel Ayal, Yablonski Deborah, Milner Joshua D, Somech Raz
Abstract excerpt
The T cell receptor (TCR) signaling pathway is an ensemble of numerous proteins that are crucial for an adequate immune response. Disruption of any protein involved in this pathway leads to severe immunodeficiency and unfavorable clinical outcomes. Here, we describe an infant with severe immunodeficiency who was found to have novel biallelic mutations in SLP76. SLP76 is a key protein involved in TCR signaling and...
Topics
- Adaptor Proteins, Signal Transducing
- Amino Acid Sequence
- Base Sequence
- Blood Platelets
- Fatal Outcome
- Humans
- Infant
- Infant, Newborn