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Year Number of Results
1999 1
2001 1
2002 1
2004 1
2006 1
2009 1
2010 1
2011 1
2012 1
2013 4
2014 8
2015 7
2016 6
2017 13
2018 10
2019 13
2020 8
2021 7
2022 10
2023 9
2024 1

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86 results

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Page 1
Systemic Inflammation and Normocytic Anemia in DOCK11 Deficiency.
Block J, Rashkova C, Castanon I, Zoghi S, Platon J, Ardy RC, Fujiwara M, Chaves B, Schoppmeyer R, van der Made CI, Jimenez Heredia R, Harms FL, Alavi S, Alsina L, Sanchez Moreno P, Ávila Polo R, Cabrera-Pérez R, Kostel Bal S, Pfajfer L, Ransmayr B, Mautner AK, Kondo R, Tinnacher A, Caldera M, Schuster M, Domínguez Conde C, Platzer R, Salzer E, Boyer T, Brunner HG, Nooitgedagt-Frons JE, Iglesias E, Deyà-Martinez A, Camacho-Lovillo M, Menche J, Bock C, Huppa JB, Pickl WF, Distel M, Yoder JA, Traver D, Engelhardt KR, Linden T, Kager L, Hannich JT, Hoischen A, Hambleton S, Illsinger S, Da Costa L, Kutsche K, Chavoshzadeh Z, van Buul JD, Antón J, Calzada-Hernández J, Neth O, Viaud J, Nishikimi A, Dupré L, Boztug K. Block J, et al. N Engl J Med. 2023 Aug 10;389(6):527-539. doi: 10.1056/NEJMoa2210054. Epub 2023 Jun 21. N Engl J Med. 2023. PMID: 37342957
Human OTULIN haploinsufficiency impairs cell-intrinsic immunity to staphylococcal α-toxin.
Spaan AN, Neehus AL, Laplantine E, Staels F, Ogishi M, Seeleuthner Y, Rapaport F, Lacey KA, Van Nieuwenhove E, Chrabieh M, Hum D, Migaud M, Izmiryan A, Lorenzo L, Kochetkov T, Heesterbeek DAC, Bardoel BW, DuMont AL, Dobbs K, Chardonnet S, Heissel S, Baslan T, Zhang P, Yang R, Bogunovic D, Wunderink HF, Haas PA, Molina H, Van Buggenhout G, Lyonnet S, Notarangelo LD, Seppänen MRJ, Weil R, Seminario G, Gomez-Tello H, Wouters C, Mesdaghi M, Shahrooei M, Bossuyt X, Sag E, Topaloglu R, Ozen S, Leavis HL, van Eijk MMJ, Bezrodnik L, Blancas Galicia L, Hovnanian A, Nassif A, Bader-Meunier B, Neven B, Meyts I, Schrijvers R, Puel A, Bustamante J, Aksentijevich I, Kastner DL, Torres VJ, Humblet-Baron S, Liston A, Abel L, Boisson B, Casanova JL. Spaan AN, et al. Science. 2022 Jun 17;376(6599):eabm6380. doi: 10.1126/science.abm6380. Epub 2022 Jun 17. Science. 2022. PMID: 35587511 Free PMC article.
Non-Infectious Complications in B-Lymphopenic Common Variable Immunodeficiency.
Pashangzadeh S, Delavari S, Shad TM, Salami F, Rasouli SE, Yazdani R, Mahdaviani SA, Nabavi M, Aleyasin S, Ahanchian H, Azad FJ, Chavoshzadeh Z, Nazari F, Momen T, Sherkat R, Abolnezhadian F, Esmaeilzadeh H, Fallahpour M, Arshi S, Bemanian MH, Shokri S, Ebrahimi SS, Abolmolouki M, Farid AS, Rezaei A, Esmaeili M, Kalantari A, Sadeghi-Shabestari M, Shirkani A, Behniafard N, Khalili A, Eslamian MH, Cheraghi T, Shafie A, Tavakol M, Khoshkhui M, Iranparast S, Shamshiri M, Shahri MA, Khazaei R, Asadi M, Babaha F, Aghamohammadi A, Rezaei N, Abolhassani H. Pashangzadeh S, et al. J Investig Allergol Clin Immunol. 2023 Apr 25:0. doi: 10.18176/jiaci.0902. Online ahead of print. J Investig Allergol Clin Immunol. 2023. PMID: 37103527 Free article.
Patients were divided into two groups based on the presence of B-cell lymphopenia. Demographic characteristics, laboratory findings, non-infectious organ involvements, autoimmunity, and lymphoproliferative diseases were evaluated. ...Some complications, including autoimmun …
Patients were divided into two groups based on the presence of B-cell lymphopenia. Demographic characteristics, laboratory findings, …
The Autoimmune Manifestations in Patients with Genetic Defects in the B Cell Development and Differentiation Stages.
Azizi G, Hesari MF, Sharifinejad N, Fayyaz F, Chavoshzadeh Z, Mahdaviani SA, Alan MS, Jamee M, Tavakol M, Sadri H, Shahrestanaki E, Nabavi M, Ebrahimi SS, Shirkani A, Vosughi Motlagh A, Delavari S, Rasouli SE, Esmaeili M, Salami F, Yazdani R, Rezaei N, Abolhassani H. Azizi G, et al. J Clin Immunol. 2023 May;43(4):819-834. doi: 10.1007/s10875-023-01442-6. Epub 2023 Feb 15. J Clin Immunol. 2023. PMID: 36790564 Free PMC article.
PURPOSE: Primary B cell defects manifesting as predominantly antibody deficiencies result from variable inborn errors of the B cell lineage and their development, including impairments in early bone marrow development, class switch recombination (CSR), or terminal …
PURPOSE: Primary B cell defects manifesting as predominantly antibody deficiencies result from variable inborn errors of the B …
Human PIK3R1 mutations disrupt lymphocyte differentiation to cause activated PI3Kδ syndrome 2.
Nguyen T, Lau A, Bier J, Cooke KC, Lenthall H, Ruiz-Diaz S, Avery DT, Brigden H, Zahra D, Sewell WA, Droney L, Okada S, Asano T, Abolhassani H, Chavoshzadeh Z, Abraham RS, Rajapakse N, Klee EW, Church JA, Williams A, Wong M, Burkhart C, Uzel G, Croucher DR, James DE, Ma CS, Brink R, Tangye SG, Deenick EK. Nguyen T, et al. J Exp Med. 2023 Jun 5;220(6):e20221020. doi: 10.1084/jem.20221020. Epub 2023 Mar 21. J Exp Med. 2023. PMID: 36943234 Free PMC article.
We observed some overlap in cellular defects in APDS1 and APDS2, including decreased intrinsic B cell class switching and defective Tfh cell function. However, we also identified unique APDS2 phenotypes including defective expansion and affinity maturation of Pik3r1 LOF …
We observed some overlap in cellular defects in APDS1 and APDS2, including decreased intrinsic B cell class switching and defective T …
Biomarkers for diagnosis of neonatal sepsis: a literature review.
Sharma D, Farahbakhsh N, Shastri S, Sharma P. Sharma D, et al. J Matern Fetal Neonatal Med. 2018 Jun;31(12):1646-1659. doi: 10.1080/14767058.2017.1322060. Epub 2017 May 7. J Matern Fetal Neonatal Med. 2018. PMID: 28427289 Review.
HLA-B*1502 in Iranian Children with Anticonvulsant Drugs-Induced Skin Reactions.
Tonekaboni SH, Jafari N, Mansouri M, Jabbehdari S, Eftekhari R, Chavoshzadeh Z, Abdollah Gorji F, Mesdaghi M. Tonekaboni SH, et al. Iran J Child Neurol. 2017 Spring;11(2):26-30. Iran J Child Neurol. 2017. PMID: 28698724 Free PMC article.
They were referred to Mofid Children's Hospital in Tehran, Iran, between Jan 2012 to Jan 2014. Genomic DNA was extracted from peripheral blood of all patients and HLA- B*1502 genotype was detected by real-time PCR. RESULTS: None of the patients was positive for HLA- …
They were referred to Mofid Children's Hospital in Tehran, Iran, between Jan 2012 to Jan 2014. Genomic DNA was extracted from periphe …
X-linked SCID with a rare mutation.
Mahdavi FS, Keramatipour M, Ansari S, Sharafian S, Karamzade A, Tavakol M. Mahdavi FS, et al. Allergy Asthma Clin Immunol. 2021 Oct 11;17(1):107. doi: 10.1186/s13223-021-00605-7. Allergy Asthma Clin Immunol. 2021. PMID: 34635152 Free PMC article.
BACKGROUND: Severe combined immunodeficiency (SCID) is a group of relatively rare primary immunodeficiency disorders (PIDs), characterized by disturbed development of T cells and B cells, caused by several genetic mutations that bring on different clinical presentations. . …
BACKGROUND: Severe combined immunodeficiency (SCID) is a group of relatively rare primary immunodeficiency disorders (PIDs), characterized b …
Cernunnos defect in an Iranian patient with T(-) B(+) NK(+) severe combined immunodeficiency: A case report and review of the literature.
Jamee M, Khakbazan Fard N, Fallah S, Golchehre Z, Fallahi M, Shamsian BS, Sharafian S, Chavoshzadeh Z. Jamee M, et al. Mol Genet Genomic Med. 2022 Aug;10(8):e1990. doi: 10.1002/mgg3.1990. Epub 2022 Jun 2. Mol Genet Genomic Med. 2022. PMID: 35656589 Free PMC article. Review.
The immunologic workup revealed lymphopenia, neutropenia, normocytic anemia, low T- but normal B- and natural killer (NK)- cells, low immunoglobulin (Ig)G, and normal IgA, IgM, and IgE. The T-cell receptor excision circle (TREC) was low and the lymphocyte transformation te …
The immunologic workup revealed lymphopenia, neutropenia, normocytic anemia, low T- but normal B- and natural killer (NK)- cells, low …
86 results