Clinical and Mutation Description of the First Iranian Cohort of Infantile Inflammatory Bowel Disease: The Iranian Primary Immunodeficiency Registry (IPIDR)

Rahmani, Farzaneh; Rayzan, Elham; Rahmani, Mohammad Reza; Shahkarami, Sepideh; Zoghi, Samaneh; Rezaei, Amir; Aryan, Zahra; Najafi, Mehri; Rohlfs, Meino; Jeske, Tim; Aflatoonian, Majid; Chavoshzadeh, Zahra; Farahmand, Fatemeh; Motamed, Farzaneh; Rohani, Pejman; Alimadadi, Hossein; Mahdaviani, Alireza; Mansouri, Mahboubeh; Tavakol, Marzieh; Vanderberg, Mirjam; Kotlarz, Daniel; Klein, Christoph; Rezaei, Nima

doi:10.1080/08820139.2020.1776725

Cited by 7 publications

(4 citation statements)

References 53 publications

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“…Glocker et al (14) identified three distinct homozygous mutations in the IL-10RA and IL-10RB genes of four children with VEO-IBD, and these were the first genes to be identified as causative for VEO-IBD. To date, the cases of ∼150 IBD patients of various ethnicities with IL-10 signaling pathway defects have been described in the literature (15)(16)(17). Using a candidate gene sequencing approach, Kotlarz et al (18) reported 16 VEO-IBD patients of different ethnicities (five Arabian, three Caucasian, two Kurdish, two Turkish, one Kurdish-Turkish, one Black, one Latin American, and one South Asian) with IL-10 or IL-10R deficiency (three patients had mutations in IL-10, five had mutations in IL-10RA, and eight had mutations in IL-10RB).…”

Section: Discussionmentioning

confidence: 99%

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Case Report: A Novel Compound Heterozygous Mutation in IL-10RA in a Chinese Child With Very Early-Onset Inflammatory Bowel Disease

Dong

Xiao

et al. 2021

Front. Pediatr.

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Very early-onset inflammatory bowel disease (VEO-IBD) is defined as IBD diagnosed in children younger than 6 years of age. VEO-IBD is often associated with a monogenic etiology or primary immune deficiency. Here, we report the case of a 7-month-old Chinese girl diagnosed with VEO-IBD who had a variant in the interleukin-10 receptor A (IL-10-RA) gene. The patient presented with recurrent fevers, abdominal pain, diarrhea, perianal abscesses, and oral ulcers. Whole-exome sequencing (WES) identified a novel compound heterozygote mutation, c.395T>G (p.Leu132Arg)/ex.1del (p.?), in the IL-10RA gene of the patient. The missense mutation c.395T>G (p.Leu132Arg) was inherited from her mother, and ex.1del (p.?) was inherited from her father. Neither mutation has been reported previously. The IL-10RA function of the patient was defective, as demonstrated by a failure of signal transducer and activator of transcription 3 (STAT3) activation in peripheral blood mononuclear cells (PBMCs) stimulated with recombinant IL-10. The patient underwent matched unrelated peripheral blood hematopoietic stem cell transplantation (HSCT), and the clinical manifestations were dramatically improved. In summary, we identified a novel compound heterozygote mutation, c.395T>G (p.Leu132Arg)/ex.1del (p.?), in IL-10RA that caused VEO-IBD in a Chinese child, which further expands the mutational spectrum of IL-10RA.

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Section: Discussionmentioning

confidence: 99%

“…Shim et al (19,20) reported seven cases of Korean infantile-onset IBD with IL-10RA mutations. Furthermore, Rahmani et al (17) described 4 patients in a cohort of 25 Iranian patients with infantile-onset IBD who had missense mutations in IL-10RA, and one had a large deletion in IL-10RB.…”

Section: Discussionmentioning

confidence: 99%

Case Report: A Novel Compound Heterozygous Mutation in IL-10RA in a Chinese Child With Very Early-Onset Inflammatory Bowel Disease

Dong

Xiao

et al. 2021

Front. Pediatr.

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“…A hybrid defect in both lymphoid and thymic stromal cell compartments has also been postulated in TTC7A deficiency. Biallelic LOF variants in TTC7A , which encodes a tetratricopeptide repeat domain containing protein, have been described in individuals with multiple intestinal atresia and combined immune deficiency affecting T, B, NK cells 203–209 . On the other hand, hypomorphic variants of the TTC7A gene have been associated with features of ectodermal dysplasia including alopecia and nail dystrophy but also autoimmunity, IBD, and increased risk of infections 206 .…”

Section: Primary Thymic Defectsmentioning

confidence: 99%

“…Biallelic LOF variants in TTC7A, which encodes a tetratricopeptide repeat domain containing protein, have been described in individuals with multiple intestinal atresia and combined immune deficiency affecting T, B, NK cells. [203][204][205][206][207][208][209] On the other hand, hypomorphic variants of the TTC7A gene have been associated with features of ectodermal dysplasia including alopecia and nail dystrophy but also autoimmunity, IBD, and increased risk of infections. 206 TTC7A is expressed not only in hematopoietic cells and gut epithelial cells, where it regulates actin cytoskeleton function crucial for both T-cell activation, proliferation, migration, 210 and gut epithelium polarity, but also in TECs.…”

Section: All Patient Presented With Classical Dysmorphic Features Of ...mentioning

confidence: 99%

Primary and secondary defects of the thymus

Dinges,

Amini,

Notarangelo

et al. 2024

Immunological Reviews

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SummaryThe thymus is the primary site of T‐cell development, enabling generation, and selection of a diverse repertoire of T cells that recognize non‐self, whilst remaining tolerant to self‐ antigens. Severe congenital disorders of thymic development (athymia) can be fatal if left untreated due to infections, and thymic tissue implantation is the only cure. While newborn screening for severe combined immune deficiency has allowed improved detection at birth of congenital athymia, thymic disorders acquired later in life are still underrecognized and assessing the quality of thymic function in such conditions remains a challenge. The thymus is sensitive to injury elicited from a variety of endogenous and exogenous factors, and its self‐renewal capacity decreases with age. Secondary and age‐related forms of thymic dysfunction may lead to an increased risk of infections, malignancy, and autoimmunity. Promising results have been obtained in preclinical models and clinical trials upon administration of soluble factors promoting thymic regeneration, but to date no therapy is approved for clinical use. In this review we provide a background on thymus development, function, and age‐related involution. We discuss disease mechanisms, diagnostic, and therapeutic approaches for primary and secondary thymic defects.

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Severe congenital neutropenia type 4 with early-onset inflammatory bowel disease attributed to a G6PC3 variant (not previously associated with disease): A case report and a literature review

et al. 2023

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Clinical and Mutation Description of the First Iranian Cohort of Infantile Inflammatory Bowel Disease: The Iranian Primary Immunodeficiency Registry (IPIDR)

Cited by 7 publications

References 53 publications

Case Report: A Novel Compound Heterozygous Mutation in IL-10RA in a Chinese Child With Very Early-Onset Inflammatory Bowel Disease

Case Report: A Novel Compound Heterozygous Mutation in IL-10RA in a Chinese Child With Very Early-Onset Inflammatory Bowel Disease

Primary and secondary defects of the thymus

Severe congenital neutropenia type 4 with early-onset inflammatory bowel disease attributed to a G6PC3 variant (not previously associated with disease): A case report and a literature review

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