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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   +5 more sources

Novel BTK Mutation in Patient with Late Diagnosis of X-Linked Agammaglobulinemia [PDF]

Case Reports in Immunology, 2023
X-linked agammaglobulinemia (XLA) is a genetic disorder with mutation in Bruton’s tyrosine kinase (BTK). Defects in B cell development and immunoglobulin production lead to recurrent infections following loss of maternal IgG at 6 months of age. A 55-year-
Amanpreet Kalkat, Olivia Humpel, Robert Hostoffer   +2 more
doaj   +5 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

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

The dilemma of X-linked agammaglobulinemia carriers [PDF]

Journal of Allergy and Clinical Immunology: Global
Background: Many patients with X-linked agammaglobulinemia (XLA) nowadays have reached adulthood, as well as their sisters, possibly carriers of a deleterious Bruton tyrosine kinase variant. Studies on motherhood outcomes in families with XLA are lacking.
Federica Pulvirenti, MD, PhD, Cinzia Milito, MD, PhD, Francesco Cinetto, MD, PhD, Giulia Garzi, MD, Germano Sardella, MD, Giuseppe Spadaro, MD, Francesca Lippi, MD, Valentina Guarnieri, MD, Bianca Laura Cinicola, MD, Maria Carrabba, MD, PhD, Daniele Guadagnolo, MD, Giovanna Fabio, MD, Baldassarre Martire, MD, Caterina Cancrini, MD, PhD, Giulia Lanzoni, MD, Andrea Finocchi, MD, PhD, Gigliola Di Matteo, MD, PhD, Eva Pompilii, MD, Simona Ferrari, BD, PhD, Isabella Quinti, MD, PhD   +19 more
doaj   +4 more sources

Mycoplasma pneumonia in a patient with X-linked agammaglobulinemia [PDF]

BMC Infectious Diseases
Background X-linked agammaglobulinemia (XLA), also referred to as Bruton’s tyrosine kinase deficiency, is a rare genetic disorder that affects the immune system.
Bowen Dai, Shujuan Han, Yuanfang Shen, Zhi Li, Shouhang Chen, Zhuangzhuang Wang, Yan Yuan, Ruyu Zhang, Chenyu Wang, Jiaying Zheng, Qiujing Liang, Qingmei Wang, Yaodong Zhang, Xiaolong Zhang, Fang Wang, Yuefei Jin   +15 more
doaj   +4 more sources

Cytomegalovirus Pneumonia in a Patient with X-Linked Agammaglobulinemia: A Case Report [PDF]

Medicina, 2022
X-linked agammaglobulinemia (XLA) is a hereditary immune disorder that predisposes patients to frequent and severe bacterial infections caused by encapsulated bacteria (such as Streptococcus pneumoniae, Staphylococcus aureus, and Haemophilus influenzae).
Yao-Xian Wong, Shyh-Dar Shyur
doaj   +3 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

IgA nephropathy in a child with X-linked agammaglobulinemia: a case report [PDF]

BMC Pediatrics
Background X-linked agammaglobulinemia (XLA) is a primary immunodeficiency disease caused by mutations in the Bruton tyrosine kinase (BTK) gene. Individuals diagnosed with XLA are at an increased risk of developing autoimmune diseases.
Yuanjin Song, Lili Sun, Dongning Feng, Qing Sun, Yibing Wang   +4 more
doaj   +3 more sources

A Patient with X-Linked Agammaglobulinemia and COVID-19 Infection Treated with Remdesivir and Convalescent Plasma. [PDF]

J Clin Immunol, 2021
To the Editor: Over the past year, the coronavirus disease 2019 (COVID19) has resulted in a worldwide pandemic. The disease results in a wide range of clinical presentations that range from asymptomatic to respiratory failure and death. To date, only two
Iaboni A, Wong N, Betschel SD.
europepmc   +4 more sources