Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Results by year

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

Year Number of Results
1983 1
1986 2
1989 5
1990 2
1991 4
1992 9
1993 11
1994 7
1995 7
1996 13
1997 9
1998 9
1999 9
2000 11
2001 6
2002 4
2003 6
2004 3
2005 8
2006 13
2007 13
2008 21
2009 13
2010 14
2011 16
2012 17
2013 14
2014 20
2015 30
2016 24
2017 19
2018 23
2019 32
2020 37
2021 31
2022 30
2023 27
2024 5

Text availability

Article attribute

Article type

Publication date

Search Results

479 results

Results by year

Filters applied: . Clear all
Quoted phrase not found in phrase index: "Immune deficiency, familial variable"
Page 1
Ataxia telangiectasia: a review.
Rothblum-Oviatt C, Wright J, Lefton-Greif MA, McGrath-Morrow SA, Crawford TO, Lederman HM. Rothblum-Oviatt C, et al. Orphanet J Rare Dis. 2016 Nov 25;11(1):159. doi: 10.1186/s13023-016-0543-7. Orphanet J Rare Dis. 2016. PMID: 27884168 Free PMC article. Review.
CLINICAL DESCRIPTION: A-T is a complex disorder with substantial variability in the severity of features between affected individuals, and at different ages. ...GENETIC COUNSELING: Genetic counseling can help family members of a patient with A-T understand when gene …
CLINICAL DESCRIPTION: A-T is a complex disorder with substantial variability in the severity of features between affected individuals …
T-cell immunodeficiencies.
Elder ME. Elder ME. Pediatr Clin North Am. 2000 Dec;47(6):1253-74. doi: 10.1016/s0031-3955(05)70270-4. Pediatr Clin North Am. 2000. PMID: 11130995 Review.
Most cellular immunodeficiencies have associated humoral defects with variable clinical and laboratory features. The underlying gene defects are now known for most inherited T-cell immune defects, and mutation analysis is quickly becoming an integral part of evaluat …
Most cellular immunodeficiencies have associated humoral defects with variable clinical and laboratory features. The underlying gene …
Common variable immune deficiency: Dissection of the variable.
Cunningham-Rundles C. Cunningham-Rundles C. Immunol Rev. 2019 Jan;287(1):145-161. doi: 10.1111/imr.12728. Immunol Rev. 2019. PMID: 30565247 Free PMC article. Review.
Starting about 60 years ago, a number of reports appeared that outlined the severe clinical course of a few adult subjects with profound hypogammaglobinemia. Puzzled by the lack of family history and adult onset of symptoms in most, the name "acquired" hypogammaglob …
Starting about 60 years ago, a number of reports appeared that outlined the severe clinical course of a few adult subjects with profo …
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 …
Genetics of breast cancer.
Greene MH. Greene MH. Mayo Clin Proc. 1997 Jan;72(1):54-65. doi: 10.4065/72.1.54. Mayo Clin Proc. 1997. PMID: 9005288 Review.
Familial breast cancer is characterized by young age at diagnosis, an increased risk of bilateral breast cancer, an increasing risk in conjunction with increasing numbers of affected family members, and a strong association with ovarian cancer. ...Predictive …
Familial breast cancer is characterized by young age at diagnosis, an increased risk of bilateral breast cancer, an increasing risk i …
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 …
The Human GP130 Cytokine Receptor and Its Expression-an Atlas and Functional Taxonomy of Genetic Variants.
Chen YH, van Zon S, Adams A, Schmidt-Arras D, Laurence ADJ, Uhlig HH. Chen YH, et al. J Clin Immunol. 2023 Dec 22;44(1):30. doi: 10.1007/s10875-023-01603-7. J Clin Immunol. 2023. PMID: 38133879 Free PMC article. Review.
Genetic variants in IL6ST encoding the shared cytokine receptor for the IL-6 cytokine family GP130 have been associated with a diverse number of clinical phenotypes and disorders. ...Our taxonomy highlights IL6ST as a gene with particularly strong functional and phenotypic …
Genetic variants in IL6ST encoding the shared cytokine receptor for the IL-6 cytokine family GP130 have been associated with a divers …
Common variable immunodeficiency: an update.
Salzer U, Warnatz K, Peter HH. Salzer U, et al. Arthritis Res Ther. 2012 Sep 24;14(5):223. doi: 10.1186/ar4032. Arthritis Res Ther. 2012. PMID: 23043756 Free PMC article. Review.
Common variable immunodeficiency (CVID) describes a heterogeneous subset of hypogammaglobulinemias of unknown etiology. ...Informative monogenetic defects have been found in single patients and families but in most cases the pathogenesis is still elusive. Numerous i …
Common variable immunodeficiency (CVID) describes a heterogeneous subset of hypogammaglobulinemias of unknown etiology. ...Informativ …
Common variable immunodeficiency. Old questions are getting clearer.
Blanco-Quirós A, Solís-Sánchez P, Garrote-Adrados JA, Arranz-Sanz E. Blanco-Quirós A, et al. Allergol Immunopathol (Madr). 2006 Nov-Dec;34(6):263-75. doi: 10.1157/13095875. Allergol Immunopathol (Madr). 2006. PMID: 17173844 Review.
Common variable immunodeficiency (CVID) is a heterogeneous entity characterized by an impaired ability to produce antibodies. ...CVID is related to selective IgA deficiency, and both abnormalities may coincide in one same family, and evolve from one to anothe …
Common variable immunodeficiency (CVID) is a heterogeneous entity characterized by an impaired ability to produce antibodies. ...CVID …
Genetic susceptibility, HIV infection, and the kidney.
Kiryluk K, Martino J, Gharavi AG. Kiryluk K, et al. Clin J Am Soc Nephrol. 2007 Jul;2 Suppl 1:S25-35. doi: 10.2215/CJN.00320107. Clin J Am Soc Nephrol. 2007. PMID: 17699508 Review.
In recent years, the sequencing of mammalian and microbial genomes has provided the opportunity to study how genetic variation in the host and pathogen influence the course of infectious disease. In the case of HIV-1 infection, such studies have led to identification of ke …
In recent years, the sequencing of mammalian and microbial genomes has provided the opportunity to study how genetic variation in the host a …
479 results