Loss of NHEJ1 Protein Due to a Novel Splice Site Mutation in a Family Presenting with Combined Immunodeficiency, Microcephaly, and Growth Retardation and Literature Review.

Sheikh, Farrukh; Hawwari, Abbas; Alhissi, Safa; Al Gazlan, Sulaiman; Al Dhekri, Hasan; Rehan Khaliq, Agha M; Borrero, Esteban; El-Baik, Lina; Arnaout, Rand; Al-Mousa, Hamoud; Alazami, Anas M

Sheikh, Farrukh; Hawwari, Abbas; Alhissi, Safa; Al Gazlan, Sulaiman; Al Dhekri, Hasan; Rehan Khaliq, Agha M; Borrero, Esteban; El-Baik, Lina; Arnaout, Rand; Al-Mousa, Hamoud; Alazami, Anas M.

Afiliación

Sheikh F; Department of Medicine, Allergy and Immunology section, King Faisal Specialist Hospital and Research Center, P.O Box 3354, MBC 46, Riyadh, 11211, Saudi Arabia. fsheikh96@kfshrc.edu.sa.
Hawwari A; King Abdullah International Medical Research Center (KAIMRC), King Saud bin Abdulaziz University for Health Sciences, King Abdulaziz Medical City Hospital, Ministry of National Guard Health Affairs, Mail Code 520, PO Box 6664, Al Hasa, 31982, Saudi Arabia. hawwariab@ngha.med.sa.
Alhissi S; Department of Genetics, King Faisal Specialist Hospital and Research Center, P.O Box 3354, MBC 3, Riyadh, 11211, Saudi Arabia. hawwariab@ngha.med.sa.
Al Gazlan S; Department of Genetics, King Faisal Specialist Hospital and Research Center, P.O Box 3354, MBC 3, Riyadh, 11211, Saudi Arabia.
Al Dhekri H; Department of Medicine, Allergy and Immunology section, King Faisal Specialist Hospital and Research Center, P.O Box 3354, MBC 46, Riyadh, 11211, Saudi Arabia.
Rehan Khaliq AM; Department of Pediatrics, Allergy and Immunology section, King Faisal Specialist Hospital and Research Center, P.O Box 3354, MBC 58, Riyadh, 11211, Saudi Arabia.
Borrero E; Department of Medicine, Allergy and Immunology section, King Faisal Specialist Hospital and Research Center, P.O Box 3354, MBC 46, Riyadh, 11211, Saudi Arabia.
El-Baik L; Alfaisal University, P.O. Box 50927, Riyadh, 1153, Saudi Arabia.
Arnaout R; Department of Genetics, King Faisal Specialist Hospital and Research Center, P.O Box 3354, MBC 3, Riyadh, 11211, Saudi Arabia.
Al-Mousa H; SmartGenetics DNATICS S.A, 787 y Portugal Edf. 7sur, Tamesis, El Salvador.
Alazami AM; Department of Genetics, King Faisal Specialist Hospital and Research Center, P.O Box 3354, MBC 3, Riyadh, 11211, Saudi Arabia.

J Clin Immunol ; 37(6): 575-581, 2017 Aug.

Article en En | MEDLINE | ID: mdl-28741180

Asunto(s)

Enzimas Reparadoras del ADN/genética; Proteínas de Unión al ADN/genética; Discapacidades del Desarrollo/genética; Síndromes de Inmunodeficiencia/genética; Microcefalia/genética; Mutación/genética; Isoformas de Proteínas/genética; Sitios de Empalme de ARN/genética; Adolescente; Adulto; Empalme Alternativo; Niño; Familia; Femenino; Secuenciación de Nucleótidos de Alto Rendimiento; Homocigoto; Humanos; Masculino; Linaje; Fenotipo; Hermanos

Palabras clave

Cernunnos-XLF deficiency; NHEJ1 mutation; growth retardation; microcephaly; primary immune deficiency

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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Discapacidades del Desarrollo / Isoformas de Proteínas / Sitios de Empalme de ARN / Enzimas Reparadoras del ADN / Proteínas de Unión al ADN / Síndromes de Inmunodeficiencia / Microcefalia / Mutación Límite: Adolescent / Adult / Child / Female / Humans / Male Idioma: En Revista: J Clin Immunol Año: 2017 Tipo del documento: Article País de afiliación: Arabia Saudita

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