CD18 deficiency evolving to megakaryocytic (M7) acute myeloid leukemia: Case report

Vasconcelos, Dewton de Moraes; Beitler, Beatriz; Martinez, Gracia A.; Pereira, Juliana; Filho, José Ulysses Amigo; Klautau, Giselle Burlamaqui; Yu, Liang; Negra, Marinella Della; Duarte, Alberto José da Silva

doi:10.1016/j.bcmd.2014.07.005

Cited by 6 publications

(3 citation statements)

References 34 publications

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“…An atomic force microscopy study suggested that G6PD plays a significant role in hemolytic anemia by affecting the membrane structure of red blood cells (Tang et al, 2015 ). The severity of clinical manifestations of myeloid leukemia is directly related to the degree of CD18 ( ITGB2 ) deficiency (Vasconcelos Dde et al, 2014 ). As a biochemical marker of atherosclerosis, the concentration of ANXA5 serves as a standard for clinical diagnosis of cardiovascular complications in kidney disease (Emanuel et al, 2013 ).…”

Section: Discussionmentioning

confidence: 99%

Mass spectrometry based proteomics profiling of human monocytes

et al. 2016

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Human monocyte is an important cell type which is involved in various complex human diseases. To better understand the biology of human monocytes and facilitate further studies, we developed the first comprehensive proteome knowledge base specifically for human monocytes by integrating both in vivo and in vitro datasets. The top 2000 expressed genes from in vitro datasets and 779 genes from in vivo experiments were integrated into this study. Altogether, a total of 2237 unique monocyte-expressed genes were cataloged. Biological functions of these monocyte-expressed genes were annotated and classified via Gene Ontology (GO) analysis. Furthermore, by extracting the overlapped genes from in vivo and in vitro datasets, a core gene list including 541 unique genes was generated. Based on the core gene list, further gene-disease associations, pathway and network analyses were performed. Data analyses based on multiple bioinformatics tools produced a large body of biologically meaningful information, and revealed a number of genes such as SAMHD1, G6PD, GPD2 and ENO1, which have been reported to be related to immune response, blood biology, bone remodeling, and cancer respectively. As a unique resource, this study can serve as a reference map for future in-depth research on monocytes biology and monocyte-involved human diseases.Electronic supplementary materialThe online version of this article (doi:10.1007/s13238-016-0342-x) contains supplementary material, which is available to authorized users.

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Section: Discussionmentioning

confidence: 99%

Mass spectrometry based proteomics profiling of human monocytes

et al. 2016

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“…Despite persistent neutrophilia, neutrophils are unable to mobilize to sites of infections, causing patients to develop recurrent/severe bacterial infections with a lack of pus formation. LAD patients have been considered at risk for fungal infections, but in reality, these manifest as intermittent episodes of mucosal candidiasis rather than IC [ 73 , 74 , 75 , 76 , 77 ]. Specific granule deficiency (SGD) is marked by neutrophils lacking secondary granule proteins along with an atypical nuclear morphology.…”

Section: Candidiasismentioning

confidence: 99%

Of Mycelium and Men: Inherent Human Susceptibility to Fungal Diseases

Vinh

2023

Pathogens

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In medical mycology, the main context of disease is iatrogenic-based disease. However, historically, and occasionally, even today, fungal diseases affect humans with no obvious risk factors, sometimes in a spectacular fashion. The field of “inborn errors of immunity” (IEI) has deduced at least some of these previously enigmatic cases; accordingly, the discovery of single-gene disorders with penetrant clinical effects and their immunologic dissection have provided a framework with which to understand some of the key pathways mediating human susceptibility to mycoses. By extension, they have also enabled the identification of naturally occurring auto-antibodies to cytokines that phenocopy such susceptibility. This review provides a comprehensive update of IEI and autoantibodies that inherently predispose humans to various fungal diseases.

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“…Mild-and moderate phenotype patients have better survival, though patients not undergoing hematopoietic stem cell transplantation (HSCT) have a high risk of noninfectious complications. Since LAD-1 is a rare disease, and partial deficiency is even more rare, non-infectious complications are mentioned only in few case reports and include malignancies, such as M7 acute myelocytic leukemia, diffuse large B-cell lymphoma, 7,8 autoimmune disorders, [9][10][11] and inflammatory complications, the most common of which is pyoderma-like skin lesions. [12][13][14][15][16][17][18][19] Partial CD18 expression is usually associated with missense or splice site mutations in ITGB2 gene.…”

Section: Introductionmentioning

confidence: 99%

Variable CD18 expression in a 22‐year‐old female with leukocyte adhesion deficiency I: Clinical case and literature review

Bondarenko,

Boyarchuk,

Sakovich

et al. 2023

Clinical Case Reports

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Key Clinical MessagePartial leukocyte adhesion deficiency type 1 (LAD‐1) deficiency is extremely rare condition with milder infectious manifestation and immune system imbalance leads to increased risks of autoinflammatory complications, such as pyoderma gangrenosum, that can be triggered by trauma or pregnancy. In patients with spice‐site ITGB2 variants, partial expression can occur due to different β2 integrin isophorms expression.AbstractLAD‐1, OMIM ID #116920 is a rare, autosomal recessive disorder that results from mutations in the ITGB2 gene that encodes the CD18 β2 integrin subunit. According to the CD18 expression, LAD‐1 is categorized as severe (<2%), moderate (2%–30%), or mild (>30%). Here, we describe a 22‐year‐old female, who presented with inflammatory skin disease and oral cavity, as well as respiratory tract infections during the first year of life. LAD‐1 was diagnosed at the age of 2 years by low expression of CD18 (1%). Whole‐exome sequencing identified homozygous c. 59‐10C>A variant in the ITGB2 gene. Despite severe phenotype, the patient survived to adulthood without hematopoietic stem cell transplantation and became pregnant at the age of 20 years, with pregnancy complicated by a pyoderma gangrenosum‐like lesion. During her life, CD18 expression increased from 1% to 9%; at 22 years of age, 5% of neutrophils and 9% of lymphocytes were CD18+. All CD18+‐lymphocytes were predominantly memory/effector cytotoxic T cells. However, revertant mosaicism was not being established suggesting that CD18 expression variability may be mediated by other mechanisms such as different β2 integrin isophorms expression.

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CD18 deficiency evolving to megakaryocytic (M7) acute myeloid leukemia: Case report

Cited by 6 publications

References 34 publications

Mass spectrometry based proteomics profiling of human monocytes

Mass spectrometry based proteomics profiling of human monocytes

Of Mycelium and Men: Inherent Human Susceptibility to Fungal Diseases

Variable CD18 expression in a 22‐year‐old female with leukocyte adhesion deficiency I: Clinical case and literature review

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