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

Year Number of Results
1971 1
1975 1
1977 2
1978 1
1983 2
1984 1
1985 3
1986 1
1987 1
1988 3
1989 2
1990 2
1991 3
1992 5
1993 2
1994 2
1995 2
1996 7
1997 2
1998 3
1999 4
2000 1
2001 3
2002 2
2003 9
2004 3
2005 4
2006 2
2007 3
2008 2
2009 5
2010 9
2011 5
2012 4
2013 5
2014 5
2015 4
2016 3
2017 6
2018 7
2019 8
2020 6
2021 8
2022 7
2023 5

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155 results

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Page 1
22q11.2 deletion syndrome.
McDonald-McGinn DM, Sullivan KE, Marino B, Philip N, Swillen A, Vorstman JA, Zackai EH, Emanuel BS, Vermeesch JR, Morrow BE, Scambler PJ, Bassett AS. McDonald-McGinn DM, et al. Nat Rev Dis Primers. 2015 Nov 19;1:15071. doi: 10.1038/nrdp.2015.71. Nat Rev Dis Primers. 2015. PMID: 27189754 Free PMC article. Review.
The first description in the English language of the constellation of findings now known to be due to this chromosomal difference was made in the 1960s in children with DiGeorge syndrome, who presented with the clinical triad of immunodeficiency, hypoparathyroidism …
The first description in the English language of the constellation of findings now known to be due to this chromosomal difference was made i …
Selective IgA Deficiency: Epidemiology, Pathogenesis, Clinical Phenotype, Diagnosis, Prognosis and Management.
Yazdani R, Azizi G, Abolhassani H, Aghamohammadi A. Yazdani R, et al. Scand J Immunol. 2017 Jan;85(1):3-12. doi: 10.1111/sji.12499. Scand J Immunol. 2017. PMID: 27763681 Free article. Review.
Selective immunoglobulin A deficiency (SIgAD) is the most common primary antibody deficiency. Although more patients with SIgAD are asymptomatic, selected patients suffer from different clinical complications such as pulmonary infections, allergies, autoimmune disea …
Selective immunoglobulin A deficiency (SIgAD) is the most common primary antibody deficiency. Although more patients with SIgA …
22q11.2 deletion syndrome and congenital heart disease.
Goldmuntz E. Goldmuntz E. Am J Med Genet C Semin Med Genet. 2020 Mar;184(1):64-72. doi: 10.1002/ajmg.c.31774. Epub 2020 Feb 12. Am J Med Genet C Semin Med Genet. 2020. PMID: 32049433 Review.
The 22q11.2 deletion syndrome has an estimated prevalence of 1 in 4-6,000 livebirths. The phenotype varies widely; the most common features include: facial dysmorphia, hypocalcemia, palate and speech disorders, feeding and gastrointestinal disorders, immunodefici …
The 22q11.2 deletion syndrome has an estimated prevalence of 1 in 4-6,000 livebirths. The phenotype varies widely; the most common fe …
Common Variable Immunodeficiency and Liver Involvement.
Song J, Lleo A, Yang GX, Zhang W, Bowlus CL, Gershwin ME, Leung PSC. Song J, et al. Clin Rev Allergy Immunol. 2018 Dec;55(3):340-351. doi: 10.1007/s12016-017-8638-z. Clin Rev Allergy Immunol. 2018. PMID: 28785926 Free PMC article. Review.
Common variable immunodeficiency (CVID) is a primary B-cell immunodeficiency disorder, characterized by remarkable hypogammaglobulinemia. ...The underlying causes of CVID remain largely unknown; primary B-cell dysfunctions, defects in T cells and antigen-pres …
Common variable immunodeficiency (CVID) is a primary B-cell immunodeficiency disorder, characterized by remarkable hypogammagl …
Small intestinal bacterial overgrowth syndrome.
Bures J, Cyrany J, Kohoutova D, Förstl M, Rejchrt S, Kvetina J, Vorisek V, Kopacova M. Bures J, et al. World J Gastroenterol. 2010 Jun 28;16(24):2978-90. doi: 10.3748/wjg.v16.i24.2978. World J Gastroenterol. 2010. PMID: 20572300 Free PMC article. Review.
Any dysbalance of this complex intestinal microbiome, both qualitative and quantitative, might have serious health consequence for a macro-organism, including small intestinal bacterial overgrowth syndrome (SIBO). SIBO is defined as an increase in the number and/or alterat …
Any dysbalance of this complex intestinal microbiome, both qualitative and quantitative, might have serious health consequence for a macro-o …
The hyper IgM syndromes: Epidemiology, pathogenesis, clinical manifestations, diagnosis and management.
Yazdani R, Fekrvand S, Shahkarami S, Azizi G, Moazzami B, Abolhassani H, Aghamohammadi A. Yazdani R, et al. Clin Immunol. 2019 Jan;198:19-30. doi: 10.1016/j.clim.2018.11.007. Epub 2018 Nov 13. Clin Immunol. 2019. PMID: 30439505 Review.
Hyper Immunoglobulin M syndrome (HIGM) is a rare primary immunodeficiency disorder characterized by low or absent levels of serum IgG, IgA, IgE and normal or increased levels of serum IgM. Various X-linked and autosomal recessive/dominant mutations have been reporte …
Hyper Immunoglobulin M syndrome (HIGM) is a rare primary immunodeficiency disorder characterized by low or absent levels of se …
CD40 Ligand Deficiency.
Leite LFB, Máximo TA, Mosca T, Forte WCN. Leite LFB, et al. Allergol Immunopathol (Madr). 2020 Jul-Aug;48(4):409-413. doi: 10.1016/j.aller.2019.08.005. Epub 2019 Dec 9. Allergol Immunopathol (Madr). 2020. PMID: 31831191 Review.
It manifests itself as a decrease in serum IgG, IgA and IgE, with normal or high IgM, defects in T cell proliferation, and decrease in soluble CD40L. These accompany sinopulmonary and/or gastrointestinal infections, and there may be infections caused by pyogenic bac …
It manifests itself as a decrease in serum IgG, IgA and IgE, with normal or high IgM, defects in T cell proliferation, and decrease i …
Definition and classification of hereditary angioedema.
Proper SP, Lavery WJ, Bernstein JA. Proper SP, et al. Allergy Asthma Proc. 2020 Nov 1;41(Suppl 1):S03-S07. doi: 10.2500/aap.2020.41.200040. Allergy Asthma Proc. 2020. PMID: 33109317 Review.
In most cases, HAE is caused by a deficiency of C1-esterase inhibitor (C1-INH) on the Serpin Family G Member 1 (SERPING1) gene, either through decreased amounts of C1-INH protein (C1-INH-HAE, type 1) or decreased function of C1-INH (C1-INH-HAE, type 2). HAE with normal C1- …
In most cases, HAE is caused by a deficiency of C1-esterase inhibitor (C1-INH) on the Serpin Family G Member 1 (SERPING1) gene, eithe …
Neuropathogenesis of human immunodeficiency virus infection.
Sillman B, Woldstad C, Mcmillan J, Gendelman HE. Sillman B, et al. Handb Clin Neurol. 2018;152:21-40. doi: 10.1016/B978-0-444-63849-6.00003-7. Handb Clin Neurol. 2018. PMID: 29604978 Review.
Human immunodeficiency virus (HIV)-associated neurocognitive disorders (HAND) remain a common end-organ manifestation of viral infection. Subclinical and mild symptoms lead to neurocognitive and behavioral abnormalities. These are associated, in part, with viral pen …
Human immunodeficiency virus (HIV)-associated neurocognitive disorders (HAND) remain a common end-organ manifestation of viral infect …
Selective IgA deficiency.
Yel L. Yel L. J Clin Immunol. 2010 Jan;30(1):10-6. doi: 10.1007/s10875-009-9357-x. Epub 2010 Jan 26. J Clin Immunol. 2010. PMID: 20101521 Free PMC article. Review.
INTRODUCTION: Immunoglobulin A (IgA) deficiency is the most common primary immunodeficiency defined as decreased serum level of IgA in the presence of normal levels of other immunoglobulin isotypes. Most individuals with IgA deficiency are asymptomatic and id …
INTRODUCTION: Immunoglobulin A (IgA) deficiency is the most common primary immunodeficiency defined as decreased serum level o …
155 results