Results 91 to 100 of about 10,731 (180)

Presentación de un paciente con agammaglobulinemia congénita

Correo Científico Médico, 2014
La agammaglobulinemia congénita o enfermedad de Bruton es una inmunodeficiencia  primaria que se hereda con carácter recesivo ligado al cromosoma X.
María del Carmen García Nieblas, Rosa María García Nieblas, Marianela Rodríguez Meriño, Luis Alfonso García Nieblas, Elizabeth María García Nieblas, Yudy Cruz Abreu   +5 more
doaj  

Biallelic Cys141Tyr variant of SEL1L is associated with neurodevelopmental disorders, agammaglobulinemia, and premature death

The Journal of Clinical Investigation
Suppressor of lin-12-like–HMG-CoA reductase degradation 1 (SEL1L-HRD1) ER-associated degradation (ERAD) plays a critical role in many physiological processes in mice, including immunity, water homeostasis, and energy metabolism; however, its relevance ...
Denisa Weis, Liangguang L. Lin, Huilun H. Wang, Zexin Jason Li, Katarina Kusikova, Peter Ciznar, Hermann M. Wolf, Alexander Leiss-Piller, Zhihong Wang, Xiaoqiong Wei, Serge Weis, Katarina Skalicka, Gabriela Hrckova, Lubos Danisovic, Andrea Soltysova, Tingxuan T. Yang, René Günther Feichtinger, Johannes A. Mayr, Ling Qi   +18 more
doaj   +1 more source

Clinical and genetic characterization of X-linked agammaglobulinemia in a Colombian cohort. [PDF]

World Allergy Organ J
Olaya Hernández M, Triviño Arias J, Arias Valderrama O, Cabrera Guarín V, Patiño JA, Pachajoa HM, Valencia DM, Franco AA, Castaño Jaramillo LM, Vélez Tirado N, Zea-Vera AF, Ortega-López MC, Olmos-Olmos C, Arévalo-Montenegro Y, Rincón-Arenas L, Franco JL, Orrego JC, Vásquez E, Obando-Gil C, Moribe I, Valderrama ML, Gómez-Parada C, Álvarez M, Arias AF, Pérez PM, Correa Jiménez O.   +25 more
europepmc   +1 more source

Mycoplasma pneumonia in a patient with X-linked agammaglobulinemia

Background X-linked agammaglobulinemia (XLA), also referred to as Bruton’s tyrosine kinase deficiency, is a rare genetic disorder that affects the immune system.
Qiujing Liang, Yuefei Jin, Yuanfang Shen, Zhuangzhuang Wang, Yan Yuan, Qingmei Wang, Fang Wang, Chenyu Wang, Shujuan Han, Shouhang Chen, Yaodong Zhang, Jiaying Zheng, Xiaolong Zhang, Bowen Dai, Zhi Li, Ruyu Zhang   +15 more
core   +1 more source

The cost-benefit of newborn screening for X-linked agammaglobulinemia and related B-cell lymphopenia. [PDF]

Immunol Res
Grunebaum E, Tenembaum V, Quinn J, Modell F, Somech R.   +4 more
europepmc   +1 more source

A case report of X-linked agammaglobulinemia complicated with necrotic pneumonia. [PDF]

Transl Pediatr
Zhang X, Zhu J.
europepmc   +1 more source

XLA-MTS: a distinct clinical genetic entity characterized by immunodeficiency and neurodevelopmental delay. [PDF]

Orphanet J Rare Dis
Ventura I, Revert-Ros F, Revert F, Marín-Paya JC, Ruíz-Pérez N, Prieto-Ruiz JÁ, Hernández-Andreu JM.   +6 more
europepmc   +1 more source

Actualización sobre las bases genéticas y perspectivas terapéuticas en la Agammaglobulinemia ligada al X [PDF]

Introduction: primary immunodeficiencies constitute a group of diseases with a genetic basis due to quantitative or functional alterations of different mechanisms involved in the immune response.
Lorenzo-Rodriguez, Michel Alberto, Hernández-Pacheco, Julio Israel   +1 more
core  

A novel SPI1 variant (c.566T > C (p.Ile189Thr)) possibly associated with autosomal dominant agammaglobulinemia in a Chinese girl. [PDF]

BMC Pediatr
Wu P, Zhao J, Yu Z, Li H, Liu Z, Peng Y, Cai Z, Chen D, Lu C.   +8 more
europepmc   +1 more source

Optimizing Kappa-Deleting Recombination Excision Circles (KREC) Cut-Off Values in Russian Newborn Screening Program: Balancing Sensitivity and False-Positive Rates. [PDF]

Int J Neonatal Screen
Marakhonov A, Mukhina A, Efimova I, Balinova N, Rodina Y, Zinchenko R, Voronin S, Shcherbina A, Kutsev S.   +8 more
europepmc   +1 more source