Sarcoidosis, marginal zone lymphoma, Sjögren syndrome, amyloidosis, infections and cryoglobulinemia: the ice bergs of one disease: The primary immunodeficiency disorder (PID)

2017 ◽  
Author(s):  
CHALHOUB GIHANE
Keyword(s):  
Primary Immunodeficiency ◽  
Marginal Zone ◽  
Sjögren Syndrome ◽  
Marginal Zone Lymphoma ◽  
Sjogren Syndrome ◽  
Primary Immunodeficiency Disorder ◽  
Immunodeficiency Disorder

P115 Extranodal marginal zone lymphoma secondary to sjogren syndrome, an extremely rare association in children

2017 ◽  
Author(s):  
Radu Letitia-Elena ◽  
Bica Ana-Maria ◽  
Zaharia Cristina ◽  
Dobrea Camelia ◽  
Neicu Ariana ◽  
...  
Keyword(s):  
Marginal Zone ◽  
Sjögren Syndrome ◽  
Marginal Zone Lymphoma ◽  
Sjogren Syndrome ◽  
Extranodal Marginal Zone Lymphoma ◽  
Rare Association

Monogenic Primary Immunodeficiency Disorder Associated with Common Variable Immunodeficiency and Autoimmunity

2020 ◽  
Vol 181 (9) ◽  
pp. 706-714 ◽  
Author(s):  
Mohammad Hossein Asgardoon ◽  
Gholamreza Azizi ◽  
Reza Yazdani ◽  
Mahsa Sohani ◽  
Salar Pashangzadeh ◽  
...  
Keyword(s):  
Primary Immunodeficiency ◽  
Common Variable Immunodeficiency ◽  
Primary Immunodeficiency Disorder ◽  
Immunodeficiency Disorder ◽  
Common Variable

Significance of Primary Immunodeficiency Disorder (PID)–associated Germline Mutations in Korean patients with ALL

2020 ◽  
Author(s):  
Sang-Yong Shin ◽  
Hyeonah Lee ◽  
Seung-Tae Lee ◽  
Jong Rak Choi ◽  
Chul Won Jung ◽  
...  
Keyword(s):  
Primary Immunodeficiency ◽  
Germline Mutations ◽  
Genetic Alterations ◽  
Gene Panel ◽  
Sequence Variants ◽  
Clinical Effects ◽  
Primary Immunodeficiency Disorder ◽  
Immunodeficiency Disorder ◽  
Recurrent Mutations ◽  
Gene Panels

Abstract Background In addition to somatic mutations, germline genetic predisposition to hematologic malignancies is an emerging research issue. In this study, we investigated genetic alterations (both somatic and germline) in Korean acute lymphoblastic leukemia/lymphoma (ALL) patients using targeted gene panel sequencing. Method We selected ALL patients diagnosed at Samsung Medical Center. Eighty-two well known genes associated with 23 predisposition syndromes were included in the gene panel. In addition to sequence variants, gene-level copy number variants (CNVs) were investigated. Results Ninety-three ALL patients (65 children, 28 adults) were enrolled in this study. We identified 197 somatic sequence variants (excluding synonymous variants) and 223 somatic CNVs. Overall survival (OS) and relapse-free survival (RFS) differed significantly by cytogenetic group in childhood B-ALL. The IKZF1 alteration had an adverse effect on OS and RFS in childhood ALL. Among the 82 genes associated with 23 predisposition syndromes, known mutations (TP53, LIG4) and novel mutations (TINF2, CTC1) were identified. Nine patients (9.7%) had pathogenic or likely pathogenic variants associated with primary immunodeficiency disorder (PID) in a heterozygous state. Conclusions We found recurrent mutations and clinical effects similar to those reported in previous studies. We also found an unexpectedly high prevalence of PID-associated germline mutations. Our results suggest several important points: 1) paired leukemic and normal control samples are recommended to discriminate somatic and germline mutations; 2) gene panels must include genes associated with predisposition; 3) gene panels must include genes associated with PID.

scholarly journals Primary Immunodeficiency with Severe Multi-Organ Immune Dysregulation

2019 ◽  
Vol 2019 ◽  
pp. 1-3
Author(s):  
Tatyana Gavrilova
Keyword(s):  
Primary Immunodeficiency ◽  
Autosomal Recessive Disorder ◽  
Primary Immunodeficiency Disorder ◽  
Biallelic Mutation ◽  
Polyglandular Autoimmune Syndrome ◽  
Whole Exome ◽  
Immunodeficiency Disorder ◽  
Life Threatening ◽  
Polyglandular Autoimmune Syndrome Type

Polyglandular autoimmune syndrome type 1, also known as autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED), is a rare primary immunodeficiency disorder with multi-organ involvement. Besides for being predisposed to severe life-threatening infections, patients with APECED are also prone to organ impairment secondary to severe autoimmunity. As this is an autosomal recessive disorder, a biallelic mutation in the AIRE gene is responsible for APECED. The author presents a case of APECED with a single AIRE mutation. Whole exome sequencing identified a mutation in the BTNL2 gene that the author suggests may have contributed to the patient’s presentation.

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