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1993 1
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1997 1
1999 1
2003 5
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2013 4
2018 2
2019 3
2020 1
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Clinical and molecular features of X-linked hyper IgM syndrome - An experience from North India.
Rawat A, Mathew B, Pandiarajan V, Jindal A, Sharma M, Suri D, Gupta A, Goel S, Karim A, Saikia B, Minz RW, Imai K, Nonoyama S, Ohara O, Giliani SC, Notarangelo LD, Chan KW, Lau YL, Singh S. Rawat A, et al. Clin Immunol. 2018 Oct;195:59-66. doi: 10.1016/j.clim.2018.07.013. Epub 2018 Jul 25. Clin Immunol. 2018. PMID: 30053428 Free PMC article.
X-linked hyper IgM Syndrome (XLHIGM), the most frequent form of the Hyper IgM syndromes is a primary immune deficiency resulting from a mutation in the CD40 ligand gene (CD40LG). ...Sclerosing cholangitis and necrotising fasciitis …
X-linked hyper IgM Syndrome (XLHIGM), the most frequent form of the Hyper IgM syndromes is a primary immu …
The X-linked hyper-IgM syndrome: clinical and immunologic features of 79 patients.
Winkelstein JA, Marino MC, Ochs H, Fuleihan R, Scholl PR, Geha R, Stiehm ER, Conley ME. Winkelstein JA, et al. Medicine (Baltimore). 2003 Nov;82(6):373-84. doi: 10.1097/01.md.0000100046.06009.b0. Medicine (Baltimore). 2003. PMID: 14663287 Free article.
The X-linked hyper-IgM (XHIGM) syndrome is an uncommon primary immunodeficiency disease caused by mutations in the gene for CD40 ligand and characterized by normal or elevated serum IgM, reduced levels of IgG and IgA, and defective T-cell functi …
The X-linked hyper-IgM (XHIGM) syndrome is an uncommon primary immunodeficiency disease caused by mutations in t …
Clinical, immunological, and molecular characterization of hyper-IgM syndrome due to CD40 deficiency in eleven patients.
Al-Saud BK, Al-Sum Z, Alassiri H, Al-Ghonaium A, Al-Muhsen S, Al-Dhekri H, Arnaout R, Alsmadi O, Borrero E, Abu-Staiteh A, Rawas F, Al-Mousa H, Hawwari A. Al-Saud BK, et al. J Clin Immunol. 2013 Nov;33(8):1325-35. doi: 10.1007/s10875-013-9951-9. J Clin Immunol. 2013. PMID: 24122029 Review.
PURPOSE: Hyper-IgM syndrome due to CD40 deficiency (HIGM3) is a rare form of primary immunodeficiency with few reported cases. ...Five patients had sclerosing cholangitis, and five patients had Cryptosporidium isolated from their stool. S …
PURPOSE: Hyper-IgM syndrome due to CD40 deficiency (HIGM3) is a rare form of primary immunodeficiency with few r …
X-Linked Hyper IgM Syndrome.
Dunn CP, de la Morena MT. Dunn CP, et al. 2007 May 31 [updated 2020 Feb 20]. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2020. GeneReviews®. 1993–2020. PMID: 20301576 Free Books & Documents. Review.
CLINICAL CHARACTERISTICS: X-linked hyper IgM syndrome (HIGM1), a disorder of abnormal T- and B-cell function, is characterized by low serum concentrations of IgG, IgA, and IgE with normal or elevated serum concentrations of IgM. ...GENETIC COUNSELING: …
CLINICAL CHARACTERISTICS: X-linked hyper IgM syndrome (HIGM1), a disorder of abnormal T- and B-cell function, is charac …
Combined liver and hematopoietic stem cell transplantation in patients with X-linked hyper-IgM syndrome.
Bucciol G, Nicholas SK, Calvo PL, Cant A, Edgar JDM, Español T, Ferrua F, Galicchio M, Gennery AR, Hadzic N, Hanson IC, Kusminsky G, Lange A, Lanternier F, Mahlaoui N, Moshous D, Nademi Z, Neven B, Oleastro M, Porta F, Quarello P, Silva M, Slatter MA, Soncini E, Stefanowicz M, Tandoi F, Teisseyre M, Torgerson TR, Veys P, Weinacht KG, Wolska-Kuśnierz B, Pirenne J, de la Morena MT, Meyts I. Bucciol G, et al. J Allergy Clin Immunol. 2019 May;143(5):1952-1956.e6. doi: 10.1016/j.jaci.2018.12.1013. Epub 2019 Jan 22. J Allergy Clin Immunol. 2019. PMID: 30682461 No abstract available.
Liver Abscesses and Hyper IgM Syndrome.
Shah I, Rahangdale A, Bhatnagar S. Shah I, et al. J Family Med Prim Care. 2013 Apr;2(2):206-8. doi: 10.4103/2249-4863.117429. J Family Med Prim Care. 2013. PMID: 24479081 Free PMC article.
Hyper IgM (HIGM) syndrome is an immunodeficiency that can lead to liver disease in more than 80% of affected males by an age of 20 years. Hepatitis, sclerosing cholangitis, and hepatocellular malignancies are common among them. We encount
Hyper IgM (HIGM) syndrome is an immunodeficiency that can lead to liver disease in more than 80% of affected mal
[X-linked hyper-IGM syndrome associated to sclerosing cholangitis and gallbladder neoplasm: clinical case].
Rodríguez C, Carrión F, Marinovic MA, Chávez E, Preisler J, Pooley F, Futatani T, Ochs HD. Rodríguez C, et al. Rev Med Chil. 2003 Mar;131(3):303-8. Rev Med Chil. 2003. PMID: 12790080 Spanish.
We report a 11 years old male diagnosed as a X-linked hyper-IgM syndrome that presented with recurrent infections and sclerosing cholangitis and later developed a gallbladder cancer. ...Liver biopsy demonstrated the presence of idiopathic scl
We report a 11 years old male diagnosed as a X-linked hyper-IgM syndrome that presented with recurrent infections and …
Hematopoietic stem cell transplantation for CD40 ligand deficiency: Results from an EBMT/ESID-IEWP-SCETIDE-PIDTC study.
Ferrua F, Galimberti S, Courteille V, Slatter MA, Booth C, Moshous D, Neven B, Blanche S, Cavazzana M, Laberko A, Shcherbina A, Balashov D, Soncini E, Porta F, Al-Mousa H, Al-Saud B, Al-Dhekri H, Arnaout R, Formankova R, Bertrand Y, Lange A, Smart J, Wolska-Kusnierz B, Aquino VM, Dvorak CC, Fasth A, Fouyssac F, Heilmann C, Hoenig M, Schuetz C, Kelečić J, Bredius RGM, Lankester AC, Lindemans CA, Suarez F, Sullivan KE, Albert MH, Kałwak K, Barlogis V, Bhatia M, Bordon V, Czogala W, Alonso L, Dogu F, Gozdzik J, Ikinciogullari A, Kriván G, Ljungman P, Meyts I, Mustillo P, Smith AR, Speckmann C, Sundin M, Keogh SJ, Shaw PJ, Boelens JJ, Schulz AS, Sedlacek P, Veys P, Mahlaoui N, Janda A, Davies EG, Fischer A, Cowan MJ, Gennery AR; SCETIDE, PIDTC, EBMT & ESID IEWP. Ferrua F, et al. J Allergy Clin Immunol. 2019 Jun;143(6):2238-2253. doi: 10.1016/j.jaci.2018.12.1010. Epub 2019 Jan 17. J Allergy Clin Immunol. 2019. PMID: 30660643 Free article.
BACKGROUND: CD40 ligand (CD40L) deficiency, an X-linked primary immunodeficiency, causes recurrent sinopulmonary, Pneumocystis and Cryptosporidium species infections. ...Sclerosing cholangitis was the most important risk factor. After 2000, superior OS was ac …
BACKGROUND: CD40 ligand (CD40L) deficiency, an X-linked primary immunodeficiency, causes recurrent sinopulmonary, Pneumocystis and Cr …
[The hyper-IgM syndrome: 13 observations].
Bejaoui M, Mellouli F, Chouanine R, Dellagi K, Barbouche MR. Bejaoui M, et al. Presse Med. 2003 Mar 29;32(12):544-9. Presse Med. 2003. PMID: 12714921 French.
INTRODUCTION: The hyper-IgM syndrome (HIGM) is a rare hereditary immune deficiency, characterised by a low or nil level of IgG and IgA and a normal or increased level of IgM, predominately affecting boys. ...CONCLUSION: The primary hyper-IgM
INTRODUCTION: The hyper-IgM syndrome (HIGM) is a rare hereditary immune deficiency, characterised by a low or nil level …
Recurrent acalculous cholecystitis and sclerosing cholangitis in a patient with X-linked hyper-immunoglobulin M syndrome.
Lin SC, Shyur SD, Ma YC, Huang LH, Lee HC, Lee WI. Lin SC, et al. J Formos Med Assoc. 2005 Jun;104(6):421-6. J Formos Med Assoc. 2005. PMID: 16037832
X-linked hyper-immunoglobulin M (IgM) syndrome (XHIGM) is a rare genetic primary immunodeficiency disease caused by mutations of the CD40 ligand (CD40L) gene with normal or elevated levels of IgM and markedly decreased serum IgG, IgA, and IgE. . …
X-linked hyper-immunoglobulin M (IgM) syndrome (XHIGM) is a rare genetic primary immunodeficiency disease caused …
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