Inherited Human BCL10 Deficiencies

被引：0

作者：

Alsaidalani, Ashwag A. ^{[1
]}

Garcia-Solis, Blanca ^{[2
,3
,4
]}

Bukhari, Esraa ^{[1
]}

van den Rym, Ana ^{[2
,3
,4
]}

Lopez-Collazo, Eduardo ^{[3
]}

Sanchez-Ramon, Silvia ^{[4
,5
]}

Corvillo, Fernando ^{[6
]}

Lopez-Lera, Alberto ^{[6
]}

de Andres, Ana ^{[7
]}

Martinez-Barricarte, Ruben ^{[8
,9
]}

Perez de Diego, Rebeca ^{[2
,3
,4
]}

机构：

[1] King Abdulaziz Univ, Fac Med, Dept Pediat, Jeddah 22252, Saudi Arabia

[2] La Paz Univ Hosp, IdiPAZ Inst Hlth Res, Lab Immunogenet Dis, Madrid 28046, Spain

[3] La Paz Univ Hosp, Innate Immun Grp, IdiPAZ Inst Hlth Res, Madrid 28046, Spain

[4] Interdept Grp Immunodeficiencies, Madrid, Spain

[5] Hosp Clin San Carlos, Dept Clin Immunol & IdSSC, Madrid, Spain

[6] La Paz Univ Hosp, IdiPAZ Inst Hlth Res, CIBERER U 754, CIBERER 754, Madrid, Spain

[7] Hosp Ramon & Cajal, Serv Immunol, Dept Immunol, E-28034 Madrid, Spain

[8] Vanderbilt Univ, Med Ctr, Dept Med, Div Genet Med, Nashville, TN 37232 USA

[9] Vanderbilt Univ, Med Ctr, Vanderbilt Inst Infect Immunol & Inflammat, Dept Pathol Microbiol & Immunol, Nashville, TN 37232 USA

来源：

JOURNAL OF CLINICAL IMMUNOLOGY | 2024年 / 44卷 / 01期

关键词：

Primary immunodeficiency; inborn errors of immunity; combined immunodeficiency; BCL10; NF-KAPPA-B; INDUCED ACTIVATION; RECEPTORS ENGAGE; CELL LYMPHOMA; MALT LYMPHOMA; T-CELL; CARMA1; INNATE; CARD9; INFLAMMATION;

D O I：

10.1007/s10875-023-01619-z

中图分类号：

R392 [医学免疫学]; Q939.91 [免疫学];

学科分类号：

100102 ;

摘要：

Human BCL10 deficiency causes combined immunodeficiency with bone marrow transplantation as its only curative option. To date, there are four homozygous mutations described in the literature that were identified in four unrelated patients. Here, we describe a fifth patient with a novel mutation and summarize what we have learned about BCL10 deficiency. Due to the severity of the disease, accurate knowledge of its clinical and immunological characteristics is instrumental for early diagnosis and adequate clinical management of the patients.

引用

页数：8

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