Works matching Severe combined immunodeficiency syndrome and genetics

Results: 8

DORSAL UNGUAL PTERYGIUM.

Published in:

Our Dermatology Online / Nasza Dermatologia Online, 2012, v. 3, n. 1, p. 57

By:

Patricia Chang

Publication type:

Article

Phenotypical heterogeneity in RAG‐deficient patients from a highly consanguineous population.

Published in:

Clinical & Experimental Immunology, 2019, v. 195, n. 2, p. 202, doi. 10.1111/cei.13222

By:

Meshaal, S. S.;
El Hawary, R. E.;
Abd Elaziz, D. S.;
Eldash, A.;
Alkady, R.;
Lotfy, S.;
Mauracher, A. A.;
Opitz, L.;
Pachlopnik Schmid, J.;
van der Burg, M.;
Chou, J.;
Galal, N. M.;
Boutros, J. A.;
Geha, R.;
Elmarsafy, A. M.

Publication type:

Article

Newborn Screening for Severe T and B Cell Lymphopenia Using TREC/KREC Detection: A Large-Scale Pilot Study of 202,908 Newborns.

Published in:

Journal of Clinical Immunology, 2024, v. 44, n. 4, p. 1, doi. 10.1007/s10875-024-01691-z

By:

Marakhonov, Andrey V.;
Efimova, Irina Yu.;
Mukhina, Anna A.;
Zinchenko, Rena A.;
Balinova, Natalya V.;
Rodina, Yulia;
Pershin, Dmitry;
Ryzhkova, Oxana P.;
Orlova, Anna A.;
Zabnenkova, Viktoriia V.;
Cherevatova, Tatiana B.;
Beskorovainaya, Tatiana S.;
Shchagina, Olga A.;
Polyakov, Alexander V.;
Markova, Zhanna G.;
Minzhenkova, Marina E.;
Shilova, Nadezhda V.;
Larin, Sergey S.;
Khadzhieva, Maryam B.;
Dudina, Ekaterina S.

Publication type:

Article

Post-Transplantation B Cell Function in Different Molecular Types of SCID.

Published in:

Journal of Clinical Immunology, 2013, v. 33, n. 1, p. 96, doi. 10.1007/s10875-012-9797-6

By:

Buckley, Rebecca;
Win, Chan;
Moser, Barry;
Parrott, Roberta;
Sajaroff, Elisa;
Sarzotti-Kelsoe, Marcella

Publication type:

Article

Identification of X-linked severe combined immunodeficiency by mutation analysis of blood and hair roots.

Published in:

British Journal of Haematology, 1999, v. 106, n. 1, p. 190, doi. 10.1046/j.1365-2141.1999.01527.x

By:

Ting, Suk See;
Leigh, Don;
Lindeman, Robert;
Ziegler, John B.

Publication type:

Article

The Clinical and Genetic Spectrum of 82 Patients With RAG Deficiency Including a c.256_257delAA Founder Variant in Slavic Countries.

Published in:

Frontiers in Immunology, 2020, v. 11, p. 1, doi. 10.3389/fimmu.2020.00900

By:

Sharapova, Svetlana O.;
Skomska-Pawliszak, Małgorzata;
Rodina, Yulia A.;
Wolska-Kuśnierz, Beata;
Dabrowska-Leonik, Nel;
Mikołuć, Bozena;
Pashchenko, Olga E.;
Pasic, Srdjan;
Freiberger, Tomáš;
Milota, Tomáš;
Formánková, Renata;
Szaflarska, Anna;
Siedlar, Maciej;
Avčin, Tadej;
Markelj, Gašper;
Ciznar, Peter;
Kalwak, Krzysztof;
Kołtan, Sylwia;
Jackowska, Teresa;
Drabko, Katarzyna

Publication type:

Article

Iranian Genetic Testing Registry for Primary Immunodeficiencies.

Published in:

2018

By:

Badalzadeh, Mohsen;
Alizadeh, Zahra;
Tajik, Shaghayegh;
Shakerian, Leila;
Mazinan, Marzieh;
Pourpak, Zahra;
Fazlollahi, Mohammad Reza;
Houshmand, Massoud

Publication type:

Abstract

RNA silencing and HIV: A hypothesis for the etiology of the severe combined immunodeficiency induced by the virus.

Published in:

Retrovirology, 2008, v. 5, p. 1, doi. 10.1186/1742-4690-5-79

By:

Ludwig, Linda B.

Publication type:

Article