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Quoted phrase not found in phrase index: "Combined immunodeficiency due to LRBA deficiency"
Page 1
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. ...Flow cytometry effectively identifies major forms of PIDs, including severe combined immunodeficiency, X-linked agammaglobulinemia, hyper IgM syndrom …
Primary immunodeficiencies (PIDs) are a heterogeneous group of inherited diseases of the immune system. ...Flow cytometry effectively …
Primary Immune Regulatory Disorders With an Autoimmune Lymphoproliferative Syndrome-Like Phenotype: Immunologic Evaluation, Early Diagnosis and Management.
López-Nevado M, González-Granado LI, Ruiz-García R, Pleguezuelo D, Cabrera-Marante O, Salmón N, Blanco-Lobo P, Domínguez-Pinilla N, Rodríguez-Pena R, Sebastián E, Cruz-Rojo J, Olbrich P, Ruiz-Contreras J, Paz-Artal E, Neth O, Allende LM. López-Nevado M, et al. Front Immunol. 2021 Aug 10;12:671755. doi: 10.3389/fimmu.2021.671755. eCollection 2021. Front Immunol. 2021. PMID: 34447369 Free PMC article.
Following the Preferred Reporting Items for Systematic Reviews and Meta-analyses (PRISMA), we identified more than 600 patients suffering from 24 distinct genetic defects described in the literature with an autoimmune lymphoproliferative phenotype (ALPS-like syndromes) cor …
Following the Preferred Reporting Items for Systematic Reviews and Meta-analyses (PRISMA), we identified more than 600 patients suffering fr …
Primary Immunodeficiencies Associated with EBV Disease.
Cohen JI. Cohen JI. Curr Top Microbiol Immunol. 2015;390(Pt 1):241-65. doi: 10.1007/978-3-319-22822-8_10. Curr Top Microbiol Immunol. 2015. PMID: 26424649 Free PMC article. Review.
These include mutations in SH2D1A, BIRC4, ITK, CD27, MAGT1, CORO1A, and LRBA. Since EBV is the only virus that induces proliferation of B cells, the study of these diseases has helped to identify proteins critical for interactions of T and/or NK cells with B cells. ...Thes …
These include mutations in SH2D1A, BIRC4, ITK, CD27, MAGT1, CORO1A, and LRBA. Since EBV is the only virus that induces proliferation …
The Immune Deficiency and Dysregulation Activity (IDDA2.1 'Kaleidoscope') Score and Other Clinical Measures in Inborn Errors of Immunity.
Seidel MG, Tesch VK, Yang L, Hauck F, Horn AL, Smolle MA, Quehenberger F, Benesch M. Seidel MG, et al. J Clin Immunol. 2022 Apr;42(3):484-498. doi: 10.1007/s10875-021-01177-2. Epub 2021 Nov 19. J Clin Immunol. 2022. PMID: 34797428 Free PMC article.
On the basis of a literature review, we provide a descriptive comparison of ten selected scores and measures frequently used in IEI and divide these into three categories: (1) diagnostic tools (for Hyper-IgE syndrome, hemophagocytic lymphohistiocytosis, and Wiskott-Aldrich syndro …
On the basis of a literature review, we provide a descriptive comparison of ten selected scores and measures frequently used in IEI and divi …
Respiratory manifestations in LPS-responsive beige-like anchor (LRBA) protein-deficient patients.
Shamriz O, Shadur B, NaserEddin A, Zaidman I, Simanovsky N, Elpeleg O, Kerem E, Reiter J, Stepensky P. Shamriz O, et al. Eur J Pediatr. 2018 Aug;177(8):1163-1172. doi: 10.1007/s00431-018-3171-5. Epub 2018 May 18. Eur J Pediatr. 2018. PMID: 29777306
Lipopolysaccharide (LPS)-responsive beige-like anchor (LRBA) protein deficiency is a rare syndrome of primary immune deficiency and immune dysregulation. ...On their latest examination, seven patients had no respiratory symptoms. CONCLUSION: Pulmonary manifes …
Lipopolysaccharide (LPS)-responsive beige-like anchor (LRBA) protein deficiency is a rare syndrome of primary immune defici …
The Effects of Stimulation with PMA/Ionomycin on CD4+ T Cell Proliferation and Surface CD4 Molecule Modulation of Patients with LRBA Deficiency and CVID with the Unsolved Genetic Defect.
Salami F, Shariati S, Rasouli SE, Delavari S, Tavakol M, Sadri H, Asghari B, Yazdani R, Rezaei N, Abolhassani H, Azizi G. Salami F, et al. Endocr Metab Immune Disord Drug Targets. 2022;22(5):539-544. doi: 10.2174/1871530321666211209162834. Endocr Metab Immune Disord Drug Targets. 2022. PMID: 34886783
BACKGROUND: Common variable immunodeficiency (CVID) is the most prevalent symptomatic primary immunodeficiencies. LPS-responsive beige-like anchor protein (LRBA) deficiency is a combined immunodeficiency characterized by a CVID-like pheno …
BACKGROUND: Common variable immunodeficiency (CVID) is the most prevalent symptomatic primary immunodeficiencies. LPS-responsi …
Long-term outcome of LRBA deficiency in 76 patients after various treatment modalities as evaluated by the immune deficiency and dysregulation activity (IDDA) score.
Tesch VK, Abolhassani H, Shadur B, Zobel J, Mareika Y, Sharapova S, Karakoc-Aydiner E, Rivière JG, Garcia-Prat M, Moes N, Haerynck F, Gonzales-Granado LI, Santos Pérez JL, Mukhina A, Shcherbina A, Aghamohammadi A, Hammarström L, Dogu F, Haskologlu S, İkincioğulları AI, Köstel Bal S, Baris S, Kilic SS, Karaca NE, Kutukculer N, Girschick H, Kolios A, Keles S, Uygun V, Stepensky P, Worth A, van Montfrans JM, Peters AMJ, Meyts I, Adeli M, Marzollo A, Padem N, Khojah AM, Chavoshzadeh Z, Avbelj Stefanija M, Bakhtiar S, Florkin B, Meeths M, Gamez L, Grimbacher B, Seppänen MRJ, Lankester A, Gennery AR, Seidel MG; Inborn Errors, Clinical, and Registry Working Parties of the European Society for Blood and Marrow Transplantation and the European Society for Immunodeficiencies. Tesch VK, et al. J Allergy Clin Immunol. 2020 May;145(5):1452-1463. doi: 10.1016/j.jaci.2019.12.896. Epub 2019 Dec 27. J Allergy Clin Immunol. 2020. PMID: 31887391 Free article.
OBJECTIVE: This international retrospective study was conducted to elucidate the longitudinal clinical course of patients with LRBA deficiency who do and do not receive a transplant. METHOD: We assessed disease burden and treatment responses with a specially develop …
OBJECTIVE: This international retrospective study was conducted to elucidate the longitudinal clinical course of patients with LRBA …
Primary Immunodeficiency Disorders in children with Non-Cystic Fibrosis Bronchiectasis.
Çağdaş D, Pehlivantürk Kizılkan M, Tagiyev A, Emiralioğlu N, Keleş A, Yalçın E, Doğru D, Özçelik U, Kiper N, Tezcan İ. Çağdaş D, et al. Eur Ann Allergy Clin Immunol. 2020 Nov;52(6):271-276. doi: 10.23822/EurAnnACI.1764-1489.151. Epub 2020 Nov 3. Eur Ann Allergy Clin Immunol. 2020. PMID: 32372587 Free article.
Twenty-nine patients (41.4%) had a PID, and nearly all (n=28) had primary antibody deficiency, including patients with combined T and B cell deficiency. ...Five patients got molecular diagnosis, X-linked agammaglobulinemia (n=2), LRBA deficiency …
Twenty-nine patients (41.4%) had a PID, and nearly all (n=28) had primary antibody deficiency, including patients with combined …
Treatment and management of primary antibody deficiency: German interdisciplinary evidence-based consensus guideline.
Hanitsch L, Baumann U, Boztug K, Burkhard-Meier U, Fasshauer M, Habermehl P, Hauck F, Klock G, Liese J, Meyer O, Müller R, Pachlopnik-Schmid J, Pfeiffer-Kascha D, Warnatz K, Wehr C, Wittke K, Niehues T, von Bernuth H. Hanitsch L, et al. Eur J Immunol. 2020 Oct;50(10):1432-1446. doi: 10.1002/eji.202048713. Epub 2020 Sep 9. Eur J Immunol. 2020. PMID: 32845010 Free article.
Recommendations were based on results of a systematic literature search, data extraction, and evaluation of methodology and study quality in combination with the clinical expertise of the respective representatives. ...Special aspects of concomitant impaired T-cell functio …
Recommendations were based on results of a systematic literature search, data extraction, and evaluation of methodology and study quality in …
Clinical, immunologic, molecular analyses and outcomes of iranian patients with LRBA deficiency: A longitudinal study.
Azizi G, Abolhassani H, Mahdaviani SA, Chavoshzadeh Z, Eshghi P, Yazdani R, Kiaee F, Shaghaghi M, Mohammadi J, Rezaei N, Hammarström L, Aghamohammadi A. Azizi G, et al. Pediatr Allergy Immunol. 2017 Aug;28(5):478-484. doi: 10.1111/pai.12735. Epub 2017 Jun 19. Pediatr Allergy Immunol. 2017. PMID: 28512785
BACKGROUND: LPS-responsive beige-like anchor protein (LRBA) deficiency is a combined immunodeficiency caused by mutation in LRBA gene. ...RESULT: Hypogammaglobulinemia was reported in 14 (82.4%), CD4(+) T-cell deficiency in five (29.4%), …
BACKGROUND: LPS-responsive beige-like anchor protein (LRBA) deficiency is a combined immunodeficiency caused by …
15 results