Results 161 to 170 of about 19,116 (219)

SCID newborn screening: seven-year performance and outcomes including T-cell lymphopenia in Catalonia (Spain). [PDF]

Front Immunol
Argudo-Ramírez A, Martín-Nalda A, Laguna J, Riviere JG, González de Aledo-Castillo JM, López-Galera RM, Colobran R, Batlle-Masó L, Quintero Y, Martínez C, Paredes-Fuentes AJ, Perurena-Prieto J, Alonso L, Prats-Viedma B, García-Villoria J, Soler-Palacín P.   +15 more
europepmc   +1 more source

X-linked severe combined immunodeficiency due to <i>IL2RG</i> p.V223F variant: clinical evidence that support its pathogenicity- a case report. [PDF]

Front Immunol
Gutiérrez-Zepeda BM, Lona-Reyes JC, Cruz-Muñoz ME, Quintero-Ramos A, Torres-Lozano C, Bayardo-Gutierrez B, Barrón-Balderas A, Rosenzweig SD, Stoddard J, Niemela J, Núñez-Núñez ME.   +10 more
europepmc   +1 more source

Identification of novel <i>JAK3</i> variants in a suspected SCID patient and two couples undergoing carrier screening. [PDF]

Front Genet
Peng Y, Sang YL, Zhu W, Zhang N, Sun Y, Lin G, Lu GX, Tan YQ, Du J, Wang FY, He WB.   +10 more
europepmc   +1 more source

Case Report: A case series of using whole exome sequencing to detect novel variants in Vietnamese patients with inborn errors of immunity. [PDF]

Front Genet
Kim Lien NT, Van Tung N, Minh Huong LT, Van Anh NT, Phuong Mai NT, Dien TM, Hien NT, Tao NT, Hoang NH.   +8 more
europepmc   +1 more source

Australasian Society of Clinical Immunology and Allergy consensus statement on IEI molecular diagnosis. [PDF]

J Hum Immun
Yanes T, Cole T, Kane A, King J, Pinzon-Charry A, Hsiao KC, McNaughton P.   +6 more
europepmc   +1 more source

Treosulfan-fludarabine conditioning in infants with severe combined immunodeficiencies: Extended study of the UK paediatric treosulfan study. [PDF]

Br J Haematol
Lum SH, Greener S, Memon IL, Amrolia P, Nademi Z, Chiesa R, Silva J, Young H, Owens S, Williams E, Ng KF, Flood T, Gennery AR, Hambleton S, Rao K, Slatter M.   +15 more
europepmc   +1 more source

First 2-year experience of nationwide newborn screening for severe forms of T and B cell immunodeficiency: 2.3 million newborns analyzed using TREC and KREC in Russia. [PDF]

Front Immunol
Marakhonov A, Mukhina A, Efimova I, Balinova N, Ampleeva M, Bobreshova A, Rodina Y, Pershin D, Zabnenkova V, Ryzhkova O, Markova Z, Shilova N, Zhanin I, Savostyanov K, Matulevich S, Bilalov F, Koroteev A, Donnikov A, Trofimov D, Bairova T, Seitova G, Mordanov S, Nikolaeva E, Esmurzieva Z, Skorobogatova E, Olkhova L, Vakhonina L, Kostenko D, Bronin G, Zimin S, Bykova T, Balashov D, Zinchenko R, Grachev N, Voronin S, Shcherbina A, Kutsev S.   +36 more
europepmc   +1 more source

Reticular dysgenesis caused by AK2 deficiency: clinical spectrum and hematopoietic stem cell transplantation outcomes in 10 patients from a single-center. [PDF]

Front Immunol
Alaqeel B, Aljohani F, Alrumayan N, Al-Ahmari A, Mohammed R, Alsaedi H, Ayas M, Albuhairi S, Elshorbagi S, Arnaout R, Alazami AM, Alsaud B, Al-Mousa H.   +12 more
europepmc   +1 more source

Navigating primary and secondary immunodeficiency intersections: how to find IEI hidden within SID. [PDF]

Allergy Asthma Clin Immunol
Sánchez-Ramón S, Jolles S, Solimando AG, Vacca A.   +3 more
europepmc   +1 more source

Langerhans cells in mice with severe combined immunodeficiency (SCID)

, 1999
openaire   +1 more source