Clinical, immunological and genetic characteristic of patients with clinical phenotype associated to LRBA-deficiency in Colombia.

Martínez-Jaramillo, Catalina; Gutierrez-Hincapié, Sebastian; Arango, Julio César Orrego; Vásquez-Duque, G.; Erazo-Garnica, Ruth María; Franco, José Luis; Trujillo-Vargas, Claudia M.

doi:10.25100/cm.v50i3.3969

Cited by 4 publications

(3 citation statements)

References 16 publications

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“…Among the 212 LATAIE patients (166 families) identified in our study, 183 (86·3%) patients (in 33 families) had homozygous mutations, 27 (12·7%) patients (in eight families) had compound heterozygous LRBA mutations, and for four patients the mutations were not reported [24–27]. Monoallelic (heterozygous) mutations were reported in two patients [28]. Overall, 141 unique mutations were detected.…”

Section: Resultsmentioning

confidence: 99%

Comprehensive comparison between 222 CTLA-4 haploinsufficiency and 212 LRBA deficiency patients: a systematic review

Jamee

Hosseinzadeh

Sharifinejad

et al. 2021

Clinical and Experimental Immunology

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Summary Cytotoxic T lymphocyte antigen 4 (CTLA‐4) haploinsufficiency (CHAI) and lipopolysaccharide‐responsive beige‐like anchor (LRBA) deficiency (LATAIE) are newly identified inborn errors of immunity with shared molecular pathomechanisms and clinical manifestations. In this review, we aimed to provide differential comparisons regarding demographic, clinical, immunological and molecular characteristics between these two similar conditions. A literature search was conducted in PubMed, Web of Science and Scopus databases and included studies were systematically evaluated. Overall, 434 (222 CHAI and 212 LATAIE) patients were found in 101 eligible studies. The CHAI patients were mainly reported from North America and western Europe, while LATAIE patients were predominantly from Asian countries. In CHAI, positive familial history (P < 0·001) and in LATAIE, consanguineous parents (P < 0·001) were more common. In CHAI patients the rates of granulomas (P < 0·001), malignancies (P = 0·001), atopy (P = 0·001), cutaneous disorders (P < 0·001) and neurological (P = 0·002) disorders were higher, while LATAIE patients were more commonly complicated with life‐threatening infections (P = 0·002), pneumonia (P = 0·006), ear, nose and throat disorders (P < 0·001), organomegaly (P = 0·023), autoimmune enteropathy (P = 0·038) and growth failure (P < 0·001). Normal lymphocyte subsets and immunoglobulins except low serum levels of CD9+ B cells (14·0 versus 38·4%, P < 0·001), natural killer (NK) cells (21 versus 41·1%, P < 0·001), immunoglobulin (Ig)G (46·9 versus 41·1%, P = 0·291) and IgA (54·5 versus 44·7%, P = 0·076) were found in the majority of CHAI and LATAIE patients, respectively. The most frequent biological immunosuppressive agents prescribed for CHAI and LATAIE patients were rituximab and abatacept, respectively. Further investigations into the best conditioning and treatment regimens pre‐ and post‐transplantation are required to improve the survival rate of transplanted CHAI and LATAIE patients.

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Section: Resultsmentioning

confidence: 99%

Comprehensive comparison between 222 CTLA-4 haploinsufficiency and 212 LRBA deficiency patients: a systematic review

Jamee

Hosseinzadeh

Sharifinejad

et al. 2021

Clinical and Experimental Immunology

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“…Other clinical features include growth retardation, recurrent sinusitis, recurrent otitis media, recurrent conjunctivitis, bronchiectasis, pneumonia, chronic lung disease, interstitial pneumonia, asthma, autoimmune enteropathy, diarrhea, atrophic Gastritis, colitis, enteritis, arthritis, hypothyroidism, pancytopenia, granuloma, autoimmune de ciency or primary immunode ciency, etc. [22][23][24][25]This variant has not yet been reported in the literature, and the frequency of this variant in the East Asian general population in the gnomAD database is 0.000294. According to ACMG guidelines, this variant is a variant of unknown clinical signi cance.…”

Section: Lrba Genementioning

confidence: 94%

Influencing factors of hyperuricemia and gene analysis of familial gout among the elderly in Shijing Town, Nan'an City, Fujian Province

Tam

Zhang

et al. 2022

Preprint

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Background To investigate and analyze the relationship between hyperuricemia and various metabolic diseases and complications in people over 60 years old in Shijing Town, Nan'an City, Fujian Province, as well as the genetic analysis of familial gout attacks. Methods A cross-sectional study was conducted on the health examination data of people over 60 years old in Shijing Town, Nan'an City, Fujian Province (total population of 78,500) in 2019 and 2020. The differences between groups of metabolic indicators and complications and the correlation between uric acid and various metabolic indicators were analyzed. And 2 gout attack families were selected and used clinical whole-exome sequencing (including mitochondria) to conduct genome-wide association analysis. Results The total prevalence rate of hyperuricemia was 29.04%; albumin, triglyceride, alanine aminotransferase, aspartate aminotransferase, potassium ion, blood urea nitrogen, blood glucose, creatinine, body mass index, hypertension, and fatty liver were higher than those in the non-hyperuricemia group, and the difference was statistically significant (P < 0.05); the high-density lipoprotein in the hyperuricemia group was lower than that in the non-hyperuricemia group blood group, the difference was statistically significant (P < 0.05). There was no significant difference in serum total cholesterol, low-density lipoprotein, total bilirubin, direct bilirubin, sodium ion, diabetes, coronary heart disease, and abnormal electrocardiogram (P > 0.05); serum uric acid level in people over 60 years old It was positively correlated with albumin, triglyceride, low-density lipoprotein, potassium ion, alanine aminotransferase, aspartate aminotransferase, and body mass index levels (P < 0.05), and negatively correlated with HDL level (P < 0.05). P < 0.05); each of SLC4A1 gene, ABCB4 gene, and LRBA gene mutation was detected in the two tested families, and no mutation of SLC2A9 and ABCG2 gene was found. Conclusions The prevalence of hyperuricemia in the elderly population in Nan'an City, Fujian Province (29.04%) is significantly higher than the average level of the elderly in my country (13.1%). Compared with the normal population, patients have significantly abnormal metabolism. There is a significant correlation with the abnormal degree of familial hyperuricemia. Hypertension and fatty liver are risk factors for hyperuricemia; the SLC4A1 gene, ABCB4 gene, and LRBA gene may be closely related to the occurrence of familial hyperuricemia.

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“…Additionally, there is a noticeable reduction in NK cells and CD8 T cells [ 40 ]. They also have a phenotypic presentation of severe hypogammaglobulinemia or an isolated decrease in Ig G or Ig A levels [ 41 ].…”

Section: Syndromes With Autoimmunity Due To Treg Defectsmentioning

confidence: 99%

Infections in Disorders of Immune Regulation

Thangaraj,

Tyagi,

Suri

et al. 2024

Pathogens

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Primary immune regulatory disorders (PIRDs) constitute a spectrum of inborn errors of immunity (IEIs) that are primarily characterized by autoimmunity, lymphoproliferation, atopy, and malignancy. In PIRDs, infections are infrequent compared to other IEIs. While susceptibility to infection primarily stems from antibody deficiency, it is sometimes associated with additional innate immune and T or NK cell defects. The use of immunotherapy and chemotherapy further complicates the immune landscape, increasing the risk of diverse infections. Recurrent sinopulmonary infections, particularly bacterial infections such as those associated with staphylococcal and streptococcal organisms, are the most reported infectious manifestations. Predisposition to viral infections, especially Epstein–Barr virus (EBV)-inducing lymphoproliferation and malignancy, is also seen. Notably, mycobacterial and invasive fungal infections are rarely documented in these disorders. Knowledge about the spectrum of infections in these disorders would prevent diagnostic delays and prevent organ damage. This review delves into the infection profile specific to autoimmune lymphoproliferative syndrome (ALPS), Tregopathies, and syndromes with autoimmunity within the broader context of PIRD. Despite the critical importance of understanding the infectious aspects of these disorders, there remains a scarcity of comprehensive reports on this subject.

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Clinical, immunological and genetic characteristic of patients with clinical phenotype associated to LRBA-deficiency in Colombia.

Cited by 4 publications

References 16 publications

Comprehensive comparison between 222 CTLA-4 haploinsufficiency and 212 LRBA deficiency patients: a systematic review

Comprehensive comparison between 222 CTLA-4 haploinsufficiency and 212 LRBA deficiency patients: a systematic review

Influencing factors of hyperuricemia and gene analysis of familial gout among the elderly in Shijing Town, Nan'an City, Fujian Province

Infections in Disorders of Immune Regulation

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