Results 111 to 120 of about 163,168 (216)

Additional file 1 of Clinical and genetic findings in two siblings with X-Linked agammaglobulinemia and bronchiolitis obliterans: a case report

, 2022
Ronaldo da Silva Francisco, Guilherme Loss de Morais, Joseane Biso de Carvalho, Cristina dos Santos Ferreira, Alexandra Lehmkuhl Gerber, Ana Paula de Campos Guimarães, Flávia Anisio Amendola, Fernanda Pinto‐Mariz, Zilton Vasconcelos, Ekaterini Goudouris, Ana Tereza Ribeiro de Vasconcelos   +10 more
openalex   +1 more source

A novel mutation leading to a deletion in the SH3 domain of Bruton's tyrosine kinase

The Turkish Journal of Pediatrics, 2006
X-linked agammaglobulinemia (XLA) is a primary B cell immunodeficiency disorder, caused by a defect in the Bruton tyrosine kinase (BTK) gene. Here, we describe a novel four base pair mutation (838delGAGT) in intron 9 of the BTK gene leading to the
Lütfiye Mesci, Hilal Ozdag, Tuba Turul, Fügen Ersoy, Ilhan Tezcan, Ozden Sanal   +5 more
doaj  

Drug reaction to ceftriaxone in a child with X-linked agammaglobulinemia [PDF]

, 2002
Vandana Kudva-Patel, Erik White, Ravi Karnani, Margaret H. Collins, Amal Assa’ad   +4 more
openalex   +1 more source

X-linked agammaglobulinemia – A rare but treatable disorder

Pediatric Hematology Oncology Journal, 2016
Dr. Rajesh Kunchelikar, Dr. Santosh Kondekar, Dr. Surbhi Rathi, Dr. Purvi Kadakia   +3 more
doaj   +1 more source

Clinical relevant Bruton’s X-linked tyrosine kinase deficiency in a female with extreme X-chromosome inactivation

Allergy, Asthma & Clinical Immunology
Background  X-linked agammaglobulinemia (XLA) is an inborn error of immunity resulting from mutations in the BTK gene. It is an X-linked inherited disease that almost exclusively affects males, while females are usually carriers of the disease.
Sundus M. NoorSaeed, Abdulaziz S. Alrafiaah, Manar Alghamdi, Adam J. Shapiro, Christine McCusker   +4 more
doaj   +1 more source

Clinical Manifestations and Treatment in Korean Patients with X-Linked Agammaglobulinemia [PDF]

, 2017
Hanna Cho, Joong Gon Kim
openalex   +1 more source

Genetic Analysis of Familial X-Linked Agammaglobulinemia [PDF]

, 2016
Wei Guan, Duchao Zhang, Peng Yan, Kun Xiao, Hongjun Gu, Lixin Xie   +5 more
openalex   +1 more source

695. Splice-Correction of X-Linked Agammaglobulinemia in a Human BAC-Transgenic Mouse Model Using Oligonucleotides [PDF]

, 2015
Burcu Bestas, Pedro Morales Moreno, Emelie K.M. Blomberg, Mohammad H. Forouzanfar, Karin E. Lundin, Robert Månsson, Anna Berglöf, Jesper Wengel, Smith Rjh   +8 more
openalex   +1 more source

X-linked ammaglobulinemia complicated with renal injury: one case report

Linchuang shenzangbing zazhi, 2023
Ya-mei Hai, Jian Jiao, Wei-wei Fan, Mian-zhi Zhang   +3 more
doaj   +1 more source

Monoclonal Antibodies for COVID-19 in X-linked Agammaglobulinemia: a Case Series. [PDF]

J Clin Immunol, 2023
Simard ML, Nadeau MA, Gauthier A, Cros G, Lavoie A.   +4 more
europepmc   +1 more source