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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1971 1
1972 5
1973 8
1974 10
1975 11
1976 11
1977 9
1978 15
1979 8
1980 11
1981 9
1982 4
1983 6
1984 8
1985 11
1986 8
1987 9
1988 9
1989 11
1990 13
1991 6
1992 4
1993 10
1994 4
1995 2
1996 4
1997 7
1998 6
1999 3
2000 5
2001 6
2002 8
2003 14
2004 3
2005 4
2006 10
2007 22
2008 16
2009 22
2010 22
2011 19
2012 22
2013 27
2014 47
2015 36
2016 44
2017 50
2018 54
2019 68
2020 65
2021 97
2022 78
2023 69
2024 22

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930 results

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Page 1
ZAP70-Related Combined Immunodeficiency.
Walkovich K, Vander Lugt M. Walkovich K, et al. 2009 Oct 20 [updated 2021 Sep 23]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. 2009 Oct 20 [updated 2021 Sep 23]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID: 20301777 Free Books & Documents. Review.
CLINICAL CHARACTERISTICS: ZAP70-related combined immunodeficiency (ZAP70-related CID) is a cell-mediated immunodeficiency caused by abnormal T-cell receptor (TCR) signaling. ...
CLINICAL CHARACTERISTICS: ZAP70-related combined immunodeficiency (ZAP70-related CID) is a cell-mediated immunodeficiency caus …
Diagnostic Approach to the Patients with Suspected Primary Immunodeficiency.
Tavakol M, Jamee M, Azizi G, Sadri H, Bagheri Y, Zaki-Dizaji M, Mahdavi FS, Jadidi-Niaragh F, Tajfirooz S, Kamali AN, Aghamahdi F, Noorian S, Kojidi HT, Mosavian M, Matani R, Dolatshahi E, Porrostami K, Elahimehr N, Fatemi-Abhari M, Sharifi L, Arjmand R, Haghi S, Zainaldain H, Yazdani R, Shaghaghi M, Abolhassani H, Aghamohammadi A. Tavakol M, et al. Endocr Metab Immune Disord Drug Targets. 2020;20(2):157-171. doi: 10.2174/1871530319666190828125316. Endocr Metab Immune Disord Drug Targets. 2020. PMID: 31456526 Review.
A multimorphic mutation in IRF4 causes human autosomal dominant combined immunodeficiency.
IRF4 International Consortium; Fornes O, Jia A, Kuehn HS, Min Q, Pannicke U, Schleussner N, Thouenon R, Yu Z, de Los Angeles Astbury M, Biggs CM, Galicchio M, Garcia-Campos JA, Gismondi S, Gonzalez Villarreal G, Hildebrand KJ, Hönig M, Hou J, Moshous D, Pittaluga S, Qian X, Rozmus J, Schulz AS, Staines-Boone AT, Sun B, Sun J, Uwe S, Venegas-Montoya E, Wang W, Wang X, Ying W, Zhai X, Zhou Q, Akalin A, André I, Barth TFE, Baumann B, Brüstle A, Burgio G, Bustamante JC, Casanova JL, Casarotto MG, Cavazzana M, Chentout L, Cockburn IA, Costanza M, Cui C, Daumke O, Del Bel KL, Eibel H, Feng X, Franke V, Gebhardt JCM, Götz A, Grunwald S, Hoareau B, Hughes TR, Jacobsen EM, Janz M, Jolma A, Lagresle-Peyrou C, Lai N, Li Y, Lin S, Lu HY, Lugo-Reyes SO, Meng X, Möller P, Moreno-Corona N, Niemela JE, Novakovsky G, Perez-Caraballo JJ, Picard C, Poggi L, Puig-Lombardi ME, Randall KL, Reisser A, Schmitt Y, Seneviratne S, Sharma M, Stoddard J, Sundararaj S, Sutton H, Tran LQ, Wang Y, Wasserman WW, Wen Z, Winkler W, Xiong E, Yang AWH, Yu M, Zhang L, Zhang H, Zhao Q, Zhen X, Enders A, Kracker S, Martinez-Barricarte R, Mathas S, Rosenzweig SD, Schwarz K, Turvey SE, Wang JY. IRF4 International Consortium, et al. Sci Immunol. 2023 Jan 20;8(79):eade7953. doi: 10.1126/sciimmunol.ade7953. Epub 2023 Jan 20. Sci Immunol. 2023. PMID: 36662884 Free PMC article.
We report a recurrent heterozygous mutation in IRF4, p.T95R, causing an autosomal dominant combined immunodeficiency (CID) in seven patients from six unrelated families. ...
We report a recurrent heterozygous mutation in IRF4, p.T95R, causing an autosomal dominant combined immunodeficiency (CID) in …
More severe than CVID: Combined immunodeficiency due to a novel NFKB2 mutation.
Bienias M, Gabrielyan A, Geberzahn L, Rösen-Wolff A, Huebner A, Jacobsen EM, Toepfner N, Fang M, Lee-Kirsch MA, Roesler J, Schuetz C. Bienias M, et al. Pediatr Allergy Immunol. 2021 May;32(4):793-797. doi: 10.1111/pai.13441. Epub 2021 Jan 19. Pediatr Allergy Immunol. 2021. PMID: 33369776 No abstract available.
Inborn Errors of Immunity.
Baloh CH, Chong H. Baloh CH, et al. Prim Care. 2023 Jun;50(2):253-268. doi: 10.1016/j.pop.2022.12.001. Epub 2023 Feb 26. Prim Care. 2023. PMID: 37105605 Review.
Combined Immunodeficiency Caused by a Novel Nonsense Mutation in LCK.
Keller B, Kfir-Erenfeld S, Matusewicz P, Hartl F, Lev A, Lee YN, Simon AJ, Stauber T, Elpeleg O, Somech R, Stepensky P, Minguet S, Schraven B, Warnatz K. Keller B, et al. J Clin Immunol. 2023 Dec 19;44(1):4. doi: 10.1007/s10875-023-01614-4. J Clin Immunol. 2023. PMID: 38112969 Free PMC article.
Mutations affecting T-cell receptor (TCR) signaling typically cause combined immunodeficiency (CID) due to varying degrees of disturbed T-cell homeostasis and differentiation. ...
Mutations affecting T-cell receptor (TCR) signaling typically cause combined immunodeficiency (CID) due to varying degrees of …
Combined immunodeficiency caused by pathogenic variants in the ZAP70 C-terminal SH2 domain.
Mongellaz C, Vicente R, Noroski LM, Noraz N, Courgnaud V, Chinen J, Faria E, Zimmermann VS, Taylor N. Mongellaz C, et al. Front Immunol. 2023 May 29;14:1155883. doi: 10.3389/fimmu.2023.1155883. eCollection 2023. Front Immunol. 2023. PMID: 37313400 Free PMC article.
INTRODUCTION: ZAP-70, a protein tyrosine kinase recruited to the T cell receptor (TCR), initiates a TCR signaling cascade upon antigen stimulation. Mutations in the ZAP70 gene cause a combined immunodeficiency characterized by low or absent CD8+ T cells and nonfunct …
INTRODUCTION: ZAP-70, a protein tyrosine kinase recruited to the T cell receptor (TCR), initiates a TCR signaling cascade upon antigen stimu …
Combined immunodeficiency: the Middle East experience.
Al-Herz W, Al-Mousa H. Al-Herz W, et al. J Allergy Clin Immunol. 2013 Mar;131(3):658-60. doi: 10.1016/j.jaci.2012.11.033. Epub 2013 Jan 12. J Allergy Clin Immunol. 2013. PMID: 23321211 Review.
Morbidity, Mortality, and Therapeutics in Combined Immunodeficiency: Data From the USIDNET Registry.
Durkee-Shock J, Zhang A, Liang H, Wright H, Magnusson J, Garabedian E, Marsh RA, Sullivan KE, Keller MD; USIDNET Consortium. Durkee-Shock J, et al. J Allergy Clin Immunol Pract. 2022 May;10(5):1334-1341.e6. doi: 10.1016/j.jaip.2022.01.042. Epub 2022 Feb 13. J Allergy Clin Immunol Pract. 2022. PMID: 35172220
BACKGROUND: Optimal management of patients with combined immunodeficiency, especially pertaining to hematopoietic stem cell transplantation (HSCT), remains unclear. OBJECTIVE: To identify factors influencing HSCT and mortality in the population with combined …
BACKGROUND: Optimal management of patients with combined immunodeficiency, especially pertaining to hematopoietic stem cell tr …
930 results