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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. ...Peripheral blood samples were coll …
BACKGROUND: Bruton's tyrosine kinase (BTK) is a cytoplasmic protein involved in the B cell development. X-linked agammaglob …
Clinical and Genetic Profile of X-Linked Agammaglobulinemia: A Multicenter Experience From India.
Rawat A, Jindal AK, Suri D, Vignesh P, Gupta A, Saikia B, Minz RW, Banday AZ, Tyagi R, Arora K, Joshi V, Mondal S, Shandilya JK, Sharma M, Desai M, Taur P, Pandrowala A, Gowri V, Sawant-Desai S, Gupta M, Dalvi AD, Madkaikar M, Aggarwal A, Raj R, Uppuluri R, Bhattad S, Jayaram A, Lashkari HP, Rajasekhar L, Munirathnam D, Kalra M, Shukla A, Saka R, Sharma R, Garg R, Imai K, Nonoyama S, Ohara O, Lee PP, Chan KW, Lau YL, Singh S. Rawat A, et al. Front Immunol. 2021 Jan 15;11:612323. doi: 10.3389/fimmu.2020.612323. eCollection 2020. Front Immunol. 2021. PMID: 33584693 Free PMC article.
RESULTS: We received clinical details of 195 patients with a provisional diagnosis of XLA from 12 centers. At final analysis, 145 patients were included (137 'definite XLA' and eight 'probable/possible XLA'). ...Follow-up details were available for 108 patients. Of these, …
RESULTS: We received clinical details of 195 patients with a provisional diagnosis of XLA from 12 centers. At final analysis, 145 pat …
X-linked agammaglobulinemia.
Timmers E, de Weers M, Alt FW, Hendriks RW, Schuurman RK. Timmers E, et al. Clin Immunol Immunopathol. 1991 Nov;61(2 Pt 2):S83-93. doi: 10.1016/s0090-1229(05)80042-x. Clin Immunol Immunopathol. 1991. PMID: 1934617 Review.
X-linked agammaglobulinemia (XLA) patients manifest a very low production of immunoglobulins (Ig) of all classes and plasma cells are virtually absent. ...Investigations on the degree of diversity of immunoglobulins generated by XLA patients exposed no limita …
X-linked agammaglobulinemia (XLA) patients manifest a very low production of immunoglobulins (Ig) of all classes and pl …
Flow cytometry-based diagnosis of primary immunodeficiency diseases.
Kanegane H, Hoshino A, Okano T, Yasumi T, Wada T, Takada H, Okada S, Yamashita M, Yeh TW, Nishikomori R, Takagi M, Imai K, Ochs HD, Morio T. Kanegane H, et al. Allergol Int. 2018 Jan;67(1):43-54. doi: 10.1016/j.alit.2017.06.003. Epub 2017 Jul 3. Allergol Int. 2018. PMID: 28684198 Free article. Review.
Primary immunodeficiencies (PIDs) are a heterogeneous group of inherited diseases of the immune system. The definite diagnosis of PID is ascertained by genetic analysis; however, this takes time and is costly. Flow cytometry provides a rapid and highly sensitive too …
Primary immunodeficiencies (PIDs) are a heterogeneous group of inherited diseases of the immune system. The definite diagnosis of PID is asc …
X-linked agammaglobulinemia. A clinical and molecular analysis.
Ochs HD, Smith CI. Ochs HD, et al. Medicine (Baltimore). 1996 Nov;75(6):287-99. doi: 10.1097/00005792-199611000-00001. Medicine (Baltimore). 1996. PMID: 8982147 Free article. Review.
X-linked agammaglobulinemia (XLA), characterized by a profound deficiency of B lymphocytes due to an arrest in B lymphocyte development, is caused by mutations in the gene encoding Btk (Bruton tyrosine kinase). ...Btk, a cytoplasmic protein tyrosine kinase, i …
X-linked agammaglobulinemia (XLA), characterized by a profound deficiency of B lymphocytes due to an arrest in B lympho …
Gastrointestinal Manifestations in X-linked Agammaglobulinemia.
Barmettler S, Otani IM, Minhas J, Abraham RS, Chang Y, Dorsey MJ, Ballas ZK, Bonilla FA, Ochs HD, Walter JE. Barmettler S, et al. J Clin Immunol. 2017 Apr;37(3):287-294. doi: 10.1007/s10875-017-0374-x. Epub 2017 Feb 24. J Clin Immunol. 2017. PMID: 28236219 Free PMC article.
PURPOSE: X-linked agammaglobulinemia is a primary humoral immunodeficiency characterized by hypogammaglobulinemia and increased susceptibility to infection. Although there is increased awareness of autoimmune and inflammatory complications in X-link …
PURPOSE: X-linked agammaglobulinemia is a primary humoral immunodeficiency characterized by hypogammaglobulinemia and i …
Clinical and genetic features of the patients with X-Linked agammaglobulinemia from Turkey: Single-centre experience.
Esenboga S, Cagdas D, Ozgur TT, Gur Cetinkaya P, Turkdemir LM, Sanal O, VanDerBurg M, Tezcan I. Esenboga S, et al. Scand J Immunol. 2018 Mar;87(3). doi: 10.1111/sji.12647. Scand J Immunol. 2018. PMID: 29424453 Free article.
X-linked agammaglobulinemia is a primary immunodeficiency disorder resulting from BTK gene mutations. ...Getting early diagnosis and regular assessment with imaging techniques seem to be the most important issues for improving the health status of the patient …
X-linked agammaglobulinemia is a primary immunodeficiency disorder resulting from BTK gene mutations. ...Getting early …
Clinical features and mutation analysis of X-linked agammaglobulinemia in 20 Chinese patients.
Qin X, Jiang LP, Tang XM, Wang M, Liu EM, Zhao XD. Qin X, et al. World J Pediatr. 2013 Aug;9(3):273-7. doi: 10.1007/s12519-013-0400-x. Epub 2013 Jan 18. World J Pediatr. 2013. PMID: 23335184
The BTK gene was amplified and sequenced, followed by mutation analysis in these children and their female relatives. RESULTS: Eighteen different mutations of the BTK gene were identified in the 20 patients. ...Eight out of 18 mutations of the BTK gene were located in the …
The BTK gene was amplified and sequenced, followed by mutation analysis in these children and their female relatives. RESULTS: Eighte …
Clinical and genetic findings in two siblings with X-Linked agammaglobulinemia and bronchiolitis obliterans: a case report.
Francisco Junior RDS, de Morais GL, de Carvalho JB, Dos Santos Ferreira C, Gerber AL, de C Guimarães AP, Amendola FA, Pinto-Mariz F, de Vasconcelos ZFM, Goudouris ES, de Vasconcelos ATR. Francisco Junior RDS, et al. BMC Pediatr. 2022 Apr 5;22(1):181. doi: 10.1186/s12887-022-03245-x. BMC Pediatr. 2022. PMID: 35382780 Free PMC article.
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. ...Although many pathogenic variants have already been described in X …
BACKGROUND: X-linked agammaglobulinemia (XLA) is an Inborn Errors of Immunity (IEI) characterized by pan-hypogammaglobu …
Prenatal diagnosis and genetic analysis of X-linked immunodeficiency disorders.
Puck JM. Puck JM. Pediatr Res. 1993 Jan;33(1 Suppl):S29-33; discussion S33-4. doi: 10.1203/00006450-199305001-00158. Pediatr Res. 1993. PMID: 8433872 Review.
As a partial solution to this problem, it has now been established that female carriers of X-linked agammaglobulinemia, X-severe combined immunodeficiency, and Wiskott-Aldrich syndrome can be identified by the pattern of X chromosome inactivation in cell line …
As a partial solution to this problem, it has now been established that female carriers of X-linked agammaglobulinemia, …
247 results