Results 31 to 40 of about 287,217 (298)

The CBM-opathies—A Rapidly Expanding Spectrum of Human Inborn Errors of Immunity Caused by Mutations in the CARD11-BCL10-MALT1 Complex

Frontiers in Immunology, 2018
The caspase recruitment domain family member 11 (CARD11 or CARMA1)—B cell CLL/lymphoma 10 (BCL10)—MALT1 paracaspase (MALT1) [CBM] signalosome complex serves as a molecular bridge between cell surface antigen receptor signaling and the activation of the ...
Henry Y. Lu, Henry Y. Lu, Bradly M. Bauman, Swadhinya Arjunaraja, Batsukh Dorjbal, Joshua D. Milner, Andrew L. Snow, Stuart E. Turvey, Stuart E. Turvey   +8 more
doaj   +1 more source

Inherited SLP76 deficiency in humans causes severe combined immunodeficiency, neutrophil and platelet defects

Journal of Experimental Medicine, 2020
SLP76 is a key molecule involved in the T cell signaling pathway; therefore, SLP76 deficiency can lead to a severe type of immunodeficiency. By reporting on a patient with germline mutation in SLP76, deficiency in this gene is linked, for the first time,
A. Lev, Y. Lee, Guangping Sun, Enas Hallumi, A. Simon, Keren S. Zrihen, Shiran Levy, Tal Beit Halevi, Maria Papazian, Neta Shwartz, I. Somekh, Sarina Levy-Mendelovich, B. Wolach, R. Gavrieli, Helly Vernitsky, O. Barel, Elisheva Javasky, T. Stauber, Chi A. Ma, Y. Zhang, N. Amariglio, G. Rechavi, Ayal Hendel, D. Yablonski, J. Milner, R. Somech   +25 more
semanticscholar   +1 more source

Bilateral extensive CMV retinitis in a sick child – Harbinger of severe combined immunodeficiency

Journal of Pediatric Critical Care, 2017
Cytomegalovirus (CMV) retinitis is a marker of severe cellular immunodeficiency. Severe combined immunodeficiency (SCID) must be considered in infants presenting with CMV retinitis in a non-HIV setting.
H S Vinayaka, Tummala Sujith Kumar, G V Basavaraj, Sagar Bhattad   +3 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

Newborn Screening for Severe Combined Immunodeficiency and T-cell Lymphopenia in California, 2010–2017

Pediatrics, 2019
NBS has improved the detection, diagnosis, treatment, and basic understanding of SCID; infants with TCL are also detected, facilitating management. OBJECTIVES: Newborn screening for severe combined immunodeficiency (SCID) was instituted in California in ...
George S. Amatuni, George S. Amatuni, R. Currier, J. Church, Tracey Bishop, Elena Grimbacher, A. Nguyen, Rajni Agarwal-Hashmi, C. Aznar, M. Butte, M. Cowan, M. Dorsey, C. Dvorak, N. Kapoor, D. Kohn, M. Markert, T. Moore, S. Naides, S. Sciortino, L. Feuchtbaum, R. A. Koupaei, J. Puck   +21 more
semanticscholar   +1 more source

Newborn screening for severe combined immunodeficiency and T‐cell lymphopenia

Immunological Reviews, 2018
The development of a T cell receptor excision circle (TREC) assay utilizing dried blood spots (DBS) made possible universal newborn screening (NBS) for severe combined immunodeficiency (SCID) as a public health measure.
J. Puck
semanticscholar   +1 more source

A Novel Homozygous JAK3 Mutation Leading to T-B+NK– SCID in Two Brazilian Patients

Frontiers in Pediatrics, 2018
We report a novel homozygous JAK3 mutation in two female Brazilian SCID infants from two unrelated kindreds. Patient 1 was referred at 2 months of age due to a family history of immunodeficiency and the appearance of a facial rash.
Lucila A. Barreiros, Gesmar R. S. Segundo, Anete S. Grumach, Pérsio Roxo-Júnior, Troy R. Torgerson, Hans D. Ochs, Antonio Condino-Neto   +6 more
doaj   +1 more source

First Universal Newborn Screening Program for Severe Combined Immunodeficiency in Europe. Two-Years' Experience in Catalonia (Spain)

Frontiers in Immunology, 2019
Severe combined immunodeficiency (SCID), the most severe form of T-cell immunodeficiency, can be screened at birth by quantifying T-cell receptor excision circles (TRECs) in dried blood spot (DBS) samples.
A. Argudo-Ramírez, A. Martín-Nalda, J. L. Marín-Soria, R. López-Galera, Sonia Pajares-García, J. M. González de Aledo-Castillo, M. Martínez-Gallo, M. García-Prat, R. Colobran, Jacques G. Rivière, Y. Quintero, T. Collado, J. García-Villoria, A. Ribes, P. Soler-Palacín   +14 more
semanticscholar   +1 more source

Economic Evaluation of Newborn Screening for Severe Combined Immunodeficiency

International Journal of Neonatal Screening, 2022
Evidence on the cost-effectiveness of newborn screening (NBS) for severe combined immunodeficiency (SCID) in the Australian policy context is lacking.
Sophy T. F. Shih, Elena Keller, Veronica Wiley, Melanie Wong, Michelle A. Farrar, Georgina M. Chambers   +5 more
doaj   +1 more source

Clinical, Immunological, and Molecular Findings in 57 Patients With Severe Combined Immunodeficiency (SCID) From India

Frontiers in Immunology, 2019
Severe combined immunodeficiency (SCID) represents one of the most severe forms of primary immunodeficiency (PID) disorders characterized by impaired cellular and humoral immune responses.
Jahnavi Aluri, M. Desai, Maya Gupta, A. Dalvi, A. Terance, S. Rosenzweig, J. Stoddard, J. Niemela, Vasundhara Tamankar, Snehal Mhatre, U. Bargir, Manasi A. Kulkarni, N. Shah, A. Aggarwal, H. Lashkari, Vidya Krishna, G. Govindaraj, M. Kalra, M. Madkaikar   +18 more
semanticscholar   +1 more source