2013 Fiscal Year Final Research Report
The diversity of clinical course and the pathogensis in primary antibody deficiency
| Project/Area Number |
23591535
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| Research Category |
Grant-in-Aid for Scientific Research (C)
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| Allocation Type | Multi-year Fund |
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| Section | 一般 |
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| Research Field |
Pediatrics
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| Research Institution | 独立行政法人国立病院機構長良医療センター(臨床研究部) (2013)
Gifu University (2011-2012) |
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Principal Investigator |
KANEKO Hideo 独立行政法人国立病院機構長良医療センター(臨床研究部), その他部局等, その他 (80293554)
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| Project Period (FY) |
2011 – 2013
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| Keywords | 抗体産生不全症 / ＸＬＡ / ＢＴＫ / ガンマグロブリン補充 |
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| Research Abstract |
X-linked agammaglobulinemia (XLA) develops due to mutation of tyrosine kinase BTK gene essential for B-cell differentiation. We examined the long-term course of four cases in 2 XLA family. Family 1 had missense mutations (L111R) in the BTK gene. Proband was suffering from severe infection, such as pleurisy and osteomyelitis. He developed pleurisy as an opportunistic infection by Helicobacter bacteria. The abnormally high level of endotoxin persisted. In family 2 mutation of the splice donor site of the BTK gene (IVS11+3 G>T) caused the skipping of exon 11. Proband (38 years), have not developed serious infections. Cousin of the proband, are enforced at the home once a week gamma globulin subcutaneous injection. The susceptibility to infection is not observed in family 2. The clinical course was variable in any individual case even with enough trough IgG level.
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Research Products
(28 results)
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[Journal Article] Paclitaxel-based chemotherapy for aggressive kaposiform hemangioendothelioma of the temporomastoid region : Case report and review of the literature2013
Author(s)
Funato M, Fukao T, Sasai H, Hori T, Terazawa D, Kanda K, Ozeki M, Mizuta K, Hirose Y, Kaneko H, Kondo N.
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Journal Title
Head Neck
Volume: 35(8)
Pages: E258-61
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[Journal Article] Autosomal-dominant chronic mucocutaneous candidiasis with STAT1-mutation can be complicated with chronic active hepatitis and hypothyroidism2012
Author(s)
Hori T, Ohnishi H, Teramoto T, Tsubouchi K, Naiki T, Hirose Y, Ohara O, Seishima M, Kaneko H, Fukao T, Kondo
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Journal Title
J Clin Immunol
Volume: 32(6)
Pages: 1213-20
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[Journal Article] Risk factors for infantile atopic dermatitis and recurrent wheezing2012
Author(s)
Kawamoto N, Fukao T, Kaneko H, Hirayama K, Sakurai S, Arai T, Kondo M, Kawamoto M, Matsui E, Teramoto T, Kasahara K, Bai C, Zhang G, Omoya K, Matsukuma E, Morimoto M, Suzuki H, Aoki Y, Kimura T, Nada M, Morita H, Tokumi T, Takemura M, Seishima M, Shiraki M, Iwasa S, Kondo
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Journal Title
J Investig Allergol Clin Immunol
Volume: 22(2)
Pages: 116-25
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[Journal Article] Genetic variations in MyD88 adaptor-like are associated with atopic dermatitis2011
Author(s)
An Y, Ohnishi H, Matsui E, Funato M, Kato Z, Teramoto T, Kaneko H, Kimura T, Kubota K, Kasahara K, Kondo N.
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Journal Title
Int J Mol Med
Volume: 27(6)
Pages: 795-801
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[Journal Article] A Complement Factor B Mutation in a Large Kindred with Atypical Hemolytic Uremic Syndrome
Author(s)
Funato M, Uemura O, Ushijima K, Ohnishi H, Orii K, Kato Z, Yamakawa S, Nagai T, Ohara O,Kaneko H, Kondo N.
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Journal Title
J Clin Immunol
Volume: (in press)
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