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

Year Number of Results
1975 1
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1986 5
1987 1
1988 1
1989 9
1990 7
1991 9
1992 19
1993 20
1994 21
1995 16
1996 27
1997 13
1998 21
1999 18
2000 15
2001 14
2002 9
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2004 14
2005 18
2006 23
2007 23
2008 32
2009 37
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1,034 results

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Quoted phrase not found in phrase index: "Immune deficiency, familial variable"
Page 1
Measuring the effect of newborn screening on survival after haematopoietic cell transplantation for severe combined immunodeficiency: a 36-year longitudinal study from the Primary Immune Deficiency Treatment Consortium.
Thakar MS, Logan BR, Puck JM, Dunn EA, Buckley RH, Cowan MJ, O'Reilly RJ, Kapoor N, Satter LF, Pai SY, Heimall J, Chandra S, Ebens CL, Chellapandian D, Williams O, Burroughs LM, Saldana BD, Rayes A, Madden LM, Chandrakasan S, Bednarski JJ 2nd, DeSantes KB, Cuvelier GDE, Teira P, Gillio AP, Eissa H, Knutsen AP, Goldman FD, Aquino VM, Shereck EB, Moore TB, Caywood EH, Lugt MTV, Rozmus J, Broglie L, Yu LC, Shah AJ, Andolina JR, Liu X, Parrott RE, Dara J, Prockop S, Martinez CA, Kapadia M, Jyonouchi SC, Sullivan KE, Bleesing JJ, Chaudhury S, Petrovic A, Keller MD, Quigg TC, Parikh S, Shenoy S, Seroogy C, Rubin T, Decaluwe H, Routes JM, Torgerson TR, Leiding JW, Pulsipher MA, Kohn DB, Griffith LM, Haddad E, Dvorak CC, Notarangelo LD. Thakar MS, et al. Lancet. 2023 Jul 8;402(10396):129-140. doi: 10.1016/S0140-6736(23)00731-6. Epub 2023 Jun 20. Lancet. 2023. PMID: 37352885
BACKGROUND: Severe combined immunodeficiency (SCID) is fatal unless durable adaptive immunity is established, most commonly through allogeneic haematopoietic cell transplantation (HCT). The Primary Immune Deficiency Treatment Consortium (PIDTC) explored factors affe …
BACKGROUND: Severe combined immunodeficiency (SCID) is fatal unless durable adaptive immunity is established, most commonly through allogene …
GATA2 deficiency and MDS/AML: Experimental strategies for disease modelling and future therapeutic prospects.
Kotmayer L, Romero-Moya D, Marin-Bejar O, Kozyra E, Català A, Bigas A, Wlodarski MW, Bödör C, Giorgetti A. Kotmayer L, et al. Br J Haematol. 2022 Nov;199(4):482-495. doi: 10.1111/bjh.18330. Epub 2022 Jun 26. Br J Haematol. 2022. PMID: 35753998 Free PMC article. Review.
GATA2 deficiency has been identified as the most common hereditary cause of MDS in adolescents with monosomy 7. Allogenic haematopoietic stem cell transplantation is the only curative option; however, chances of survival decrease with progression of immunodeficiency and MD …
GATA2 deficiency has been identified as the most common hereditary cause of MDS in adolescents with monosomy 7. Allogenic haematopoie …
Pediatric immune deficiencies: current treatment approaches.
Gonzalez C. Gonzalez C. Curr Opin Pediatr. 2022 Feb 1;34(1):61-70. doi: 10.1097/MOP.0000000000001092. Curr Opin Pediatr. 2022. PMID: 34907131 Review.
Overall survival and event free survival results, although variable among centers, are encouraging. Preliminary results from autologous gene therapy trials with safer vectors and low-dose busulfan conditioning have shown reproducible and successful results. ...
Overall survival and event free survival results, although variable among centers, are encouraging. Preliminary results from autologo …
Hemophagocytic lymphohistiocytosis: pathogenesis and treatment.
Janka GE, Lehmberg K. Janka GE, et al. Hematology Am Soc Hematol Educ Program. 2013;2013:605-11. doi: 10.1182/asheducation-2013.1.605. Hematology Am Soc Hematol Educ Program. 2013. PMID: 24319239 Review.
Persistent stimulation of lymphocytes and histiocytes results in hypercytokinemia, leading to the characteristic symptoms of HLH. Genetic defects in familial HLH and in immunodeficiency syndromes associated with albinism affect the transport, processing, and functio …
Persistent stimulation of lymphocytes and histiocytes results in hypercytokinemia, leading to the characteristic symptoms of HLH. Genetic de …
Seronegative Celiac Disease and Immunoglobulin Deficiency: Where to Look in the Submerged Iceberg?
Giorgio F, Principi M, Losurdo G, Piscitelli D, Iannone A, Barone M, Amoruso A, Ierardi E, Di Leo A. Giorgio F, et al. Nutrients. 2015 Sep 8;7(9):7486-504. doi: 10.3390/nu7095350. Nutrients. 2015. PMID: 26371035 Free PMC article. Review.
Therefore, CD may be linked to autoimmune disorders and immune deficits (common variable immunodeficiency (CVID)/IgA selective deficiency). CVID is a heterogeneous group of antibodies dysfunction, whose association with CD is demonstrated only by the response …
Therefore, CD may be linked to autoimmune disorders and immune deficits (common variable immunodeficiency (CVID)/IgA selective …
Inborn errors of immunity associated with characteristic phenotypes.
Bardou MLD, Henriques MT, Grumach AS. Bardou MLD, et al. J Pediatr (Rio J). 2021 Mar-Apr;97 Suppl 1(Suppl 1):S75-S83. doi: 10.1016/j.jped.2020.10.015. Epub 2020 Dec 19. J Pediatr (Rio J). 2021. PMID: 33347837 Free PMC article. Review.
The diversity of clinical manifestations is observed in each described disease and may appear early or later, with variable severity. Congenital thrombocytopenia, syndromes with DNA repair defect, immuno-osseous dysplasias, thymic defects, Hyper IgE Syndrome, anhidr …
The diversity of clinical manifestations is observed in each described disease and may appear early or later, with variable severity. …
HIV/AIDS in older women: unique challenges, unmet needs.
Durvasula R. Durvasula R. Behav Med. 2014;40(3):85-98. doi: 10.1080/08964289.2014.893983. Behav Med. 2014. PMID: 25090361 Free PMC article. Review.
Many older women may be starting new relationships, so it is important that providers understand the relational variables specific to this group of women. Empirical research focused on the needs of older women, and recognition of the diverse composition and needs of this g …
Many older women may be starting new relationships, so it is important that providers understand the relational variables specific to …
Primary Immunodeficiency Disorders Among North Indian Children.
Gupta D, Thakral D, Kumar P, Kabra SK, Lodha R, Kumari R, Mohanty SK, Chakraborty S, Bagri N, Mitra DK. Gupta D, et al. Indian J Pediatr. 2019 Oct;86(10):885-891. doi: 10.1007/s12098-019-02971-y. Epub 2019 Jun 8. Indian J Pediatr. 2019. PMID: 31177511
The diagnosis of index study subjects included combined humoral and cellular immunodeficiency (29%), phagocytic defects (29%), followed by predominantly antibody deficiency (18%), innate immunity and dysregulation (17%) and other well-defined syndromes (7%). ...All …
The diagnosis of index study subjects included combined humoral and cellular immunodeficiency (29%), phagocytic defects (29%), followed by p …
Clinical variability in ataxia-telangiectasia.
Lohmann E, Krüger S, Hauser AK, Hanagasi H, Guven G, Erginel-Unaltuna N, Biskup S, Gasser T. Lohmann E, et al. J Neurol. 2015 Jul;262(7):1724-7. doi: 10.1007/s00415-015-7762-z. Epub 2015 May 10. J Neurol. 2015. PMID: 25957637
Recently, ATM mutations have been found in 13 Canadian Mennonites with early-onset, isolated, predominantly cervical dystonia, in a French family with generalized dystonia and in an Indian family with dopa-responsive cervical dystonia. ...This report supports recent …
Recently, ATM mutations have been found in 13 Canadian Mennonites with early-onset, isolated, predominantly cervical dystonia, in a French …
Immunological Evaluation of Pediatric Patients with Polyautoimmunity.
Mahdavi FS, Tavakol M, Aghamahdi F, Sadri H, Chavoshzadeh Z, Jamee M, Noorian S, Alaei MR, Ashkevari P, Anaya JM, Abolhassani H, Ochs HD, Azizi G. Mahdavi FS, et al. Endocr Metab Immune Disord Drug Targets. 2024;24(7):798-807. doi: 10.2174/1871530323666230912124951. Endocr Metab Immune Disord Drug Targets. 2024. PMID: 37702233
Demographic and clinical data were collected using a questionnaire based on medical records and direct family interviews. For each patient, a basic immunologic evaluation was performed. ...IEI was diagnosed in six patients (15.38%), five of which were from the group …
Demographic and clinical data were collected using a questionnaire based on medical records and direct family interviews. For each pa …
1,034 results