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Bruton's tyrosine kinase (BTK) and matrix metalloproteinase-9 (MMP-9) regulate NLRP3 inflammasome-dependent cytokine and neutrophil extracellular trap responses in primary neutrophils.
Leal VNC, Bork F, Mateo Tortola M, von Guilleaume JC, Greve CL, Bugl S, Danker B, Bittner ZA, Grimbacher B, Pontillo A, Weber ANR. Leal VNC, et al. J Allergy Clin Immunol. 2025 Feb;155(2):569-582. doi: 10.1016/j.jaci.2024.10.035. Epub 2024 Nov 14. J Allergy Clin Immunol. 2025. PMID: 39547282 Free article.
OBJECTIVE: As NLRP3 inflammasome regulation by BTK has not been studied in neutrophils, we explored a potential regulatory role of BTK in primary murine and human neutrophils and matched monocytes or macrophages from Btk-deficient versus wild-type mice, or from healthy donors ver …
OBJECTIVE: As NLRP3 inflammasome regulation by BTK has not been studied in neutrophils, we explored a potential regulatory role of BTK in pr …
Viral infections and inborn errors of immunity.
Ewing A, Madan RP. Ewing A, et al. Curr Opin Infect Dis. 2024 Aug 1;37(4):227-231. doi: 10.1097/QCO.0000000000001021. Epub 2024 May 14. Curr Opin Infect Dis. 2024. PMID: 38747352 Review.
We will discuss hyper immunoglobulin E (IgE) syndromes, epidermodysplasia verruciformis, and X-linked agammaglobulinemia as examples of inborn errors of immunity associated with specific presentations of viral infection and disease. ...Studies of patients wit …
We will discuss hyper immunoglobulin E (IgE) syndromes, epidermodysplasia verruciformis, and X-linked agammaglobulinemia …
An International Survey of Allogeneic Hematopoietic Cell Transplantation for X-Linked Agammaglobulinemia.
Nishimura A, Uppuluri R, Raj R, Swaminathan VV, Cheng Y, Abu-Arja RF, Fu B, Laberko A, Albert MH, Hauck F, Bucciol G, Bigley V, Elcombe S, Kharya G, Pronk CJH, Wehr C, Neven B, Warnatz K, Meyts I, Morio T, Gennery AR, Kanegane H. Nishimura A, et al. J Clin Immunol. 2023 Nov;43(8):1827-1839. doi: 10.1007/s10875-023-01551-2. Epub 2023 Jul 16. J Clin Immunol. 2023. PMID: 37454339 Review.
PURPOSE: X-linked agammaglobulinemia (XLA) is an inborn error of immunity caused by variants in Bruton's tyrosine kinase (BTK). ...
PURPOSE: X-linked agammaglobulinemia (XLA) is an inborn error of immunity caused by variants in Bruton's tyrosine kinas …
BTK drives neutrophil activation for sterilizing antifungal immunity.
Desai JV, Zarakas MA, Wishart AL, Roschewski M, Aufiero MA, Donkò A, Wigerblad G, Shlezinger N, Plate M, James MR, Lim JK, Uzel G, Bergerson JR, Fuss I, Cramer RA, Franco LM, Clark ES, Khan WN, Yamanaka D, Chamilos G, El-Benna J, Kaplan MJ, Staudt LM, Leto TL, Holland SM, Wilson WH, Hohl TM, Lionakis MS. Desai JV, et al. J Clin Invest. 2024 May 2;134(12):e176142. doi: 10.1172/JCI176142. J Clin Invest. 2024. PMID: 38696257 Free PMC article.
We studied BTK-dependent fungal responses in neutrophils from diverse populations, including healthy donors, patients who were treated with BTKi, and X-linked agammaglobulinemia patients. Upon fungal exposure, BTK was activated in human neutrophils in a TLR2- …
We studied BTK-dependent fungal responses in neutrophils from diverse populations, including healthy donors, patients who were treated with …
Nephrotic Syndrome and Recurrent Infection.
Shahraki Ghadimi Z, Sadeghi Bojd S, Parvane N, Atabaki M, Alijani E. Shahraki Ghadimi Z, et al. Iran J Allergy Asthma Immunol. 2024 Oct 6;23(5):594-599. doi: 10.18502/ijaai.v23i5.16754. Iran J Allergy Asthma Immunol. 2024. PMID: 39586752 Free article.
Loss of protein leads to the loss of immunoglobulin and complements. X-linked agammaglobulinemia (XLA), or Bruton disease, is a primary immunodeficiency disease caused by a defect in the development of B cells in the bone marrow and a low serum level of immun …
Loss of protein leads to the loss of immunoglobulin and complements. X-linked agammaglobulinemia (XLA), or Bruton disea …
Clinical and Molecular Characteristics of X-Linked Agammaglobulinemia Patients 55 Years or Older.
Chin AT, Ochs HD, Kobayashi R, Abolhassani H, Alachkar H, Barmettler S, Baxendale H, Boiling K, Catanzaro J, Chua I, Coulter T, Cunningham-Rundles C, Elcombe SE, Fischer A, Grimbacher B, Gupta S, Herriot R, Herwadkar A, Imai K, Inoue S, Kirkpatrick C, Knutsen AP, Kumararatne D, Lea E, Lin MW, Litzman J, Mahlaoui N, Moriya K, Nonoyama S, Patel S, Perez E, Quinti I, Hostoffer RW, Rothenfusser S, Sargur R, Shields A, Sogkas G, Suan D, Tan T, Thomas M, Warnatz K, Younger EM, Kuo CY. Chin AT, et al. J Allergy Clin Immunol Pract. 2025 Oct;13(10):2806-2816.e6. doi: 10.1016/j.jaip.2025.06.025. Epub 2025 Jun 24. J Allergy Clin Immunol Pract. 2025. PMID: 40571245
BACKGROUND: X-linked agammaglobulinemia (XLA), caused by mutations in the Bruton tyrosine kinase (BTK) gene, leads to defective B-cell development and low or absent serum immunoglobulins. ...
BACKGROUND: X-linked agammaglobulinemia (XLA), caused by mutations in the Bruton tyrosine kinase (BTK) gene, leads to d …
Gene therapy for inborn errors of immunity: Current clinical progress.
Wijeyesinghe S, Chinen J. Wijeyesinghe S, et al. Ann Allergy Asthma Immunol. 2025 Jun;134(6):630-638. doi: 10.1016/j.anai.2025.02.026. Epub 2025 Mar 8. Ann Allergy Asthma Immunol. 2025. PMID: 40058525 Review.
Active preclinical and clinical studies are ongoing for diverse IEI, including chronic granulomatous disease, leukocyte adhesion deficiency, severe congenital neutropenia, Wiskott-Aldrich syndrome, X-linked agammaglobulinemia, and familial forms of hemophagoc …
Active preclinical and clinical studies are ongoing for diverse IEI, including chronic granulomatous disease, leukocyte adhesion deficiency, …
Clinical features and mutational analysis of X-linked agammaglobulinemia patients in Malaysia.
Chear CT, Ismail IH, Chan KC, Noh LM, Kassim A, Latiff AHA, Gill SS, Ramly NH, Tan KK, Sundaraj C, Choo CM, Mohamed SAS, Baharin MF, Zamri AS, Yahya SNHS, Mohamad SB, Ripen AM. Chear CT, et al. Front Immunol. 2023 Sep 22;14:1252765. doi: 10.3389/fimmu.2023.1252765. eCollection 2023. Front Immunol. 2023. PMID: 37809070 Free PMC article.
BACKGROUND: Bruton'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. Affected males have markedly reduced …
BACKGROUND: Bruton's tyrosine kinase (BTK) is a cytoplasmic protein involved in the B cell development. X-linked agammaglob …
Comprehensive newborn screening for severe combined immunodeficiency, X-linked agammaglobulinemia, and spinal muscular atrophy: the Chinese experience.
Chen C, Zhang C, Wu DW, Wang BY, Xiao R, Huang XL, Yang X, Gao ZG, Yang RL. Chen C, et al. World J Pediatr. 2024 Dec;20(12):1270-1282. doi: 10.1007/s12519-024-00846-7. Epub 2024 Nov 5. World J Pediatr. 2024. PMID: 39500858 Free PMC article.
BACKGROUND: Newborn screening (NBS) for severe combined immunodeficiency (SCID), X-linked agammaglobulinemia (XLA), and spinal muscular atrophy (SMA) enables early diagnosis and intervention, significantly improving patient outcomes. ...
BACKGROUND: Newborn screening (NBS) for severe combined immunodeficiency (SCID), X-linked agammaglobulinemia (XLA), and …
85 results