Results 1 to 10 of about 163,168 (216)

Immune Thrombocytopenia in an Adult With X‐linked Agammaglobulinemia: A Case Report [PDF]

eJHaem
In patients with X‐linked agammaglobulinemia (XLA), serum immunoglobulins are almost completely lacking. The prevalence of autoimmune diseases is low in XLA compared with other primary immunodeficiency diseases because antibodies are absent in XLA ...
Takeaki Matsunaga, Ken Naganuma, Noriko Tanabe, Yoshiko Mori, Marino Nagata, Shuji Momose, Yasushi Kubota   +6 more
doaj   +4 more sources

Clinical and genetic findings in two siblings with X-Linked agammaglobulinemia and bronchiolitis obliterans: a case report [PDF]

BMC Pediatrics, 2022
Background X-linked agammaglobulinemia (XLA) is an Inborn Errors of Immunity (IEI) characterized by pan-hypogammaglobulinemia and low numbers of B lymphocytes due to mutations in BTK gene.
Ronaldo da Silva Francisco Junior, Guilherme Loss de Morais, Joseane Biso de Carvalho, Cristina dos Santos Ferreira, Alexandra Lehmkuhl Gerber, Ana Paula de C Guimarães, Flávia Anisio Amendola, Fernanda Pinto-Mariz, Zilton Farias Meira de Vasconcelos, Ekaterini Simões Goudouris, Ana Tereza Ribeiro de Vasconcelos   +10 more
doaj   +5 more sources

X-linked agammaglobulinemia (XLA): Phenotype, diagnosis, and therapeutic challenges around the world [PDF]

World Allergy Organization Journal, 2019
Background: X-linked agammaglobulinemia is an inherited immunodeficiency recognized since 1952. In spite of seven decades of experience, there is still a limited understanding of regional differences in presentation and complications.
Zeinab Awad El-Sayed, Juan Carlos Aldave, Waleed Al-Herz   +2 more
exaly   +5 more sources

A Registry Study of 240 Patients with X-Linked Agammaglobulinemia Living in the USA. [PDF]

J Clin Immunol, 2023
Purpose To understand the natural history and clinical outcomes for patients with X-linked agammaglobulinemia (XLA) in the United States utilizing the United States Immunodeficiency Network (USIDNET) patient registry.
Hernandez-Trujillo V, Zhou C, Scalchunes C, Ochs HD, Sullivan KE, Cunningham-Rundles C, Fuleihan RL, Bonilla FA, Petrovic A, Rawlings DJ, de la Morena MT.   +10 more
europepmc   +4 more sources

Case report of renal manifestations in X-linked agammaglobulinemia [PDF]

Frontiers in Immunology
IntroductionX-linked agammaglobulinemia (XLA) is a humoral immunodeficiency disorder characterized by recurrent infections, severe hypogammaglobulinemia, and a deficiency of circulating B cells. While the hallmark clinical manifestations of XLA typically
Shuisen Wan, Meiling Cao, Jiahui Zou, Yaojia Bai, Mingyue Shi, Hongkun Jiang   +5 more
doaj   +3 more sources

Helicobacter trogontum Bacteremia and Lower Limb Skin Lesion in a Patient with X-Linked Agammaglobulinemia—A Case Report and Review of the Literature [PDF]

Pathogens, 2022
We describe the first case of infection with Helicobacter trogontum in a patient with X-linked agammaglobulinemia. A 22-year-old male with X-linked agammaglobulinemia presented with fever, malaise and a painful skin lesion on the lower left extremity ...
Lasse Fjordside, Caroline Herløv, Camilla Heldbjerg Drabe, Leif Percival Andersen, Terese L. Katzenstein   +4 more
doaj   +3 more sources

Co-Occurring X-Linked Agammaglobulinemia and X-Linked Chronic Granulomatous Disease: Two Isolated Pathogenic Variants in One Patient [PDF]

Biomedicines, 2023
We present a unique and unusual case of a male patient diagnosed with two coexisting and typically unassociated X-linked conditions: he was initially diagnosed with X-linked agammaglobulinemia (XLA) followed by a diagnosis of X-linked chronic ...
Lauren Gunderman, Jeffrey Brown, Sonali Chaudhury, Maurice O’Gorman, Ramsay Fuleihan, Aaruni Khanolkar, Aisha Ahmed   +6 more
doaj   +3 more sources

X-Linked Agammaglobulinemia: Infection Frequency and Infection-Related Mortality in the USIDNET Registry [PDF]

Journal of Clinical Immunology, 2022
X-linked agammaglobulinemia (XLA) is a primary immunodeficiency disorder caused by mutations in the Bruton tyrosine kinase (BTK) gene leading to B lymphocyte deficiency and susceptibility to infection.
Dana O'Toole, Charlotte Cunningham-Rundles, Kathleen E Sullivan   +2 more
exaly   +3 more sources

X-Linked Agammaglobulinemia

Medicine (United States), 2006
X-linked agammaglobulinemia (XLA) is a primary immunodeficiency caused by mutations in the gene for Bruton tyrosine kinase (BTK) that result in the deficient development of B lymphocytes and hypogammaglobulinemia. Because the disorder is uncommon, no single institution has had sufficient numbers of patients to develop a comprehensive clinical picture ...
Kathleen E Sullivan, Charlotte Cunningham-Rundles, Hans D Ochs   +2 more
exaly   +5 more sources

Clinical features and mutational analysis of X-linked agammaglobulinemia patients in Malaysia [PDF]

Frontiers in Immunology, 2023
BackgroundBruton’s tyrosine kinase (BTK) is a cytoplasmic protein involved in the B cell development. X-linked agammaglobulinemia (XLA) is caused by mutation in the BTK gene, which results in very low or absent B cells.
Chai Teng Chear, Intan Hakimah Ismail, Kwai Cheng Chan, Lokman Mohd Noh, Asiah Kassim, Amir Hamzah Abdul Latiff, Sandeep Singh Gill, Nazatul Haslina Ramly, Kah Kee Tan, Charlotte Sundaraj, Chong Ming Choo, Sharifah Adlena Syed Mohamed, Mohd Farid Baharin, Amelia Suhana Zamri, Sharifah Nurul Husna Syed Yahya, Saharuddin Bin Mohamad, Saharuddin Bin Mohamad, Adiratna Mat Ripen   +17 more
doaj   +3 more sources