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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

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   +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

Mutations of Bruton's tyrosine kinase gene in Brazilian patients with X-linked agammaglobulinemia [PDF]

Brazilian Journal of Medical and Biological Research, 2010
Mutations in Bruton's tyrosine kinase (BTK) gene are responsible for X-linked agammaglobulinemia (XLA), which is characterized by recurrent bacterial infections, profound hypogammaglobulinemia, and decreased numbers of mature B cells in peripheral blood.
V.D. Ramalho, E.B. Oliveira Júnior, S.M. Tani, P. Roxo Júnior, M.M.S. Vilela   +4 more
doaj   +6 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   +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   +2 more sources

Sustained correction of B-cell development and function in a murine model of X-linked agammaglobulinemia (XLA) using retroviral-mediated gene transfer [PDF]

, 2004
X-linked agammaglobulinemia (XLA) is a human immunodeficiency caused by mutations in Bruton tyrosine kinase (Btk) and characterized by an arrest in early B-cell development, near absence of serum immunoglobulin, and recurrent bacteria infections.
Astrakhan, A., Chae, K., Ellmeier, W., Humblet, Stéphanie, Kato, R. M., Kipp, K., Rawlings, D. J., Tabuchi, R. S., Witte, O. N., Yu, P. W.   +9 more
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Astrovirus Encephalitis in Boy with X-linked Agammaglobulinemia

Emerging Infectious Diseases, 2010
Encephalitis is a major cause of death worldwide. Although >100 pathogens have been identified as causative agents, the pathogen is not determined for up to 75% of cases.
Phenix-Lan Quan, Thor A. Wagner, Thomas Briese, Troy R. Torgerson, Mady Hornig, Alla Tashmukhamedova, Cadhla Firth, Gustavo Palacios, Ada Baisre-De-Leon, Christopher D. Paddock, Stephen K. Hutchison, Michael Egholm, Sherif R. Zaki, James E. Goldman, Hans D. Ochs, W. Ian Lipkin   +15 more
doaj   +6 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   +2 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   +2 more sources