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Rev Alerg Mex. 2020 Jul-Sep;67(3):202-213. doi: 10.29262/ram.v67i3.721.

ABSTRACT

BACKGROUND: Primary immunodeficiencies are diseases that are caused by one or more defects in the immune system.

OBJECTIVE: The purpose of the article is to describe the characteristics of the immunodeficiencies that were diagnosed in a pediatric hospital, which forms a reference center in the West of Mexico.

METHODS: A cross-sectional study of pediatric patients with primary immunodeficiency in a pediatric hospital in Guadalajara, Jalisco.

RESULTS: 60 patients were registered, of which 21% were female, and 78% were male. Predominant immunodeficiencies of antibodies formed the largest group (46% of patients). X-linked agammaglobulinemia was the most frequent immunodeficiency (21%); other frequent diagnoses were common variable immunodeficiency, and IgG subclass deficiency. The average age of the patients that were diagnosed was of 6.3 years. The most common initial manifestations were infectious processes (46%), and pneumonia was the frequent diagnosis (30%). Autoimmune manifestations were observed in 13% of patients; 67% of the patients were found with immunoglobulin replacement therapy, with which a decrease in hospitalizations from 3.2 times to 0.13 times was observed. There were two deceased patients due to surgical complications of cardiac correction and intestinal reconnection.

CONCLUSION: Knowing the behavior of primary immune deficiencies in our environment allows the opening of areas of opportunity in order to improve the survival and quality of life of our patients.

PMID:33636063 | DOI:10.29262/ram.v67i3.721

Endocr Metab Immune Disord Drug Targets. 2021 Feb 26. doi: 10.2174/1871530321666210226143912. Online ahead of print.

ABSTRACT

BACKGROUND: Dedicator of Cytokinesis 8 (DOCK8) deficiency, the most frequent cause of autosomal recessive hyper immunoglobulin (Ig)E syndrome, is a rare combined immunodeficiency.

OBJECTIVE: In this study, we report seven patients with consanguineous parents with five novel variants within the DOCK8 gene.

METHODS: For genetic analysis, we performed Whole Exome Sequencing (WES), or targeted sequencing by means of Next-generation sequencing (NGS) for some of the patients. For others, Sanger sequencing, Fluorescence-activated cell sorting (FACS), or polymerase chain reaction (PCR) was used.

RESULTS: We report five novel variants within the DOCK8 gene: three deletions (deletion of exons 4-12, 24-30, and 22-27), one frameshift (LRG_196:g.189315dup;p.(Leu1052Profs*7)), and a splice region variant (LRG_196t1:c.741+5G>T). Patients presented with skin lesions, food allergy, candidiasis, otitis, recurrent respiratory infections, short stature, aortic aneurism, gynecomastia, and coarse facial features. Patients had leukocytosis, eosinophilia, lymphopenia, and monocytosis, elevated IgE, IgG, IgA , reduced IgM and IgA levels. Patients had a low percentage of CD3+ and CD4+ cells, and a high percentage of CD19+, CD27+CD19+, and recent thymic emigrants T cells. The percentage of natural killer cells was increased in one of the patients while it was decreased in another patient. One patient died due to disseminated intravascular coagulation after hematopoietic stem cell transplantation.

CONCLUSION: We reported novel variants within the DOCK8 gene and highlighted risk of aneurysms in these patients, which have been rarely reported in these patients.

PMID:33634762 | DOI:10.2174/1871530321666210226143912

Thorax. 2021 Feb 25:thoraxjnl-2020-215585. doi: 10.1136/thoraxjnl-2020-215585. Online ahead of print.

ABSTRACT

Bronchiectasis is a well-recognised complication of primary antibody deficiency (PAD) syndromes. Previous data suggest that mortality in common variable immune deficiency (CVID) is not associated with isolated bronchiectasis. A retrospective analysis of patients with CVID and specific antibody deficiency in two tertiary referral centres with lung disease was conducted. Severity of bronchiectasis at presentation was associated with mortality. Lower FEV₁, colonisation with Pseudomonas aeruginosa and a diagnosis of COPD were also associated with mortality. Bronchiectasis is an important driver of mortality in patients with PAD syndromes.

PMID:33632768 | DOI:10.1136/thoraxjnl-2020-215585

Rev Alerg Mex. 2020 Oct-Dec;67(4):401-407. doi: 10.29262/ram.v67i4.798.

ABSTRACT

BACKGROUND: Inborn errors of immunity manifest with a greater susceptibility to infections, autoimmunity, autoinflammatory diseases, allergies, or malignancies. One of these is the mendelian susceptibility to mycobacterial disease. The most frequent etiology is the complete autosomal recessive deficiency of the β1 subunit of the interleukin 12 receptor.

CASE REPORT: A female patient who, by the age of six months, started with a nodular lesion in the right shoulder and ipsilateral axillary adenitis after the bacillus Calmette-Guérin vaccine was applied. Later, she developed a cutaneous fistula in the anterior thorax, the inframammary region, and chronic recidivant suppurative lymphadenitis. A disseminated infection caused by Mycobacterium bovis was diagnosed, therefore, individualized pharmacological treatment was required due to failure with the primary treatment. The patient was diagnosed with deficiency in the β1 subunit of the interleukin 12 receptor at age six. During her last hospitalization, she presented fever, cough, and tachypnea, and SARS-CoV-2 was detected by quantitative polymerase chain reaction. The patient has had a favorable evolution.

CONCLUSION: In patients with disseminated infections caused by bacillus Calmette-Guérin vaccination or by environmental mycobacteria, there should be suspicion of an inborn error of immunity and the patient should be referred to a third level hospital for an early immunological assessment.

PMID:33631907 | DOI:10.29262/ram.v67i4.798

J Clin Immunol. 2021 Feb 24. doi: 10.1007/s10875-021-01002-w. Online ahead of print.

ABSTRACT

BACKGROUND: Chronic granulomatous disease (CGD), one of the phagocytic system defects, is the primary immunodeficiency caused by dysfunction of the NADPH oxidase complex which generates reactive oxygen species (ROS), which are essential for killing pathogenic microorganisms, especially catalase-positive bacteria and fungi.

OBJECTIVE: The objective of our study was to assess the clinical and laboratory characteristics, treatment modalities, and prognosis of patients with CGD.

METHODS: We retrospectively reviewed 63 patients with CGD who have been diagnosed, treated, and/or followed-up between 1984 and 2018 in Hacettepe University, Ankara, in Turkey, as a developing country.

RESULTS: The number of female and male patients was 26/37. The median age at diagnosis was 3.8 (IQR: 1.0-9.6) years. The rate of consanguinity was 63.5%. The most common physical examination finding was lymphadenopathy (44/63), growth retardation (33/63), and hepatomegaly (27/63). One adult patient had squamous cell carcinoma of the lung. The most common infections were lung infection (53/63), skin abscess (43/63), and lymphadenitis (19/63). Of the 63 patients with CGD, 6 patients had inflammatory bowel disease (IBD). Twelve of the 63 patients died during follow-up. CYBA, NCF1, CYBB, and NCF2 mutations were detected in 35%, 27.5%, 25%, and 12.5% of the patients, respectively.

CONCLUSION: We identified 63 patients with CGD from a single center in Turkey. Unlike other cohort studies in Turkey, due to the high consanguineous marriage rate in our study group, AR form of CGD was more frequent, and gastrointestinal involvement were found at relatively lower rates. The rate of patients who treated with HSCT was lower in our research than in the literature. A majority of the patients in this study received conventional prophylactic therapies, which highlight on the outcome of individuals who have not undergone HSCT.

PMID:33629196 | DOI:10.1007/s10875-021-01002-w

Front Immunol. 2021 Feb 8;11:619146. doi: 10.3389/fimmu.2020.619146. eCollection 2020.

ABSTRACT

BACKGROUND: Severe Combined Immune Deficiency (SCID) is an inherited defect in lymphocyte development and function that results in life-threatening opportunistic infections in early infancy. Data on SCID from developing countries are scarce.

OBJECTIVE: To describe clinical and laboratory features of SCID diagnosed at immunology centers across India.

METHODS: A detailed case proforma in an Excel format was prepared by one of the authors (PV) and was sent to centers in India that care for patients with primary immunodeficiency diseases. We collated clinical, laboratory, and molecular details of patients with clinical profile suggestive of SCID and their outcomes. Twelve (12) centers provided necessary details which were then compiled and analyzed. Diagnosis of SCID/combined immune deficiency (CID) was based on 2018 European Society for Immunodeficiencies working definition for SCID.

RESULTS: We obtained data on 277 children; 254 were categorized as SCID and 23 as CID. Male-female ratio was 196:81. Median (inter-quartile range) age of onset of clinical symptoms and diagnosis was 2.5 months (1, 5) and 5 months (3.5, 8), respectively. Molecular diagnosis was obtained in 162 patients – IL2RG (36), RAG1 (26), ADA (19), RAG2 (17), JAK3 (15), DCLRE1C (13), IL7RA (9), PNP (3), RFXAP (3), CIITA (2), RFXANK (2), NHEJ1 (2), CD3E (2), CD3D (2), RFX5 (2), ZAP70 (2), STK4 (1), CORO1A (1), STIM1 (1), PRKDC (1), AK2 (1), DOCK2 (1), and SP100 (1). Only 23 children (8.3%) received hematopoietic stem cell transplantation (HSCT). Of these, 11 are doing well post-HSCT. Mortality was recorded in 210 children (75.8%).

CONCLUSION: We document an exponential rise in number of cases diagnosed to have SCID over the last 10 years, probably as a result of increasing awareness and improvement in diagnostic facilities at various centers in India. We suspect that these numbers are just the tip of the iceberg. Majority of patients with SCID in India are probably not being recognized and diagnosed at present. Newborn screening for SCID is the need of the hour. Easy access to pediatric HSCT services would ensure that these patients are offered HSCT at an early age.

PMID:33628209 | PMC:PMC7897653 | DOI:10.3389/fimmu.2020.619146

Mater Sociomed. 2020 Dec;32(4):307-314. doi: 10.5455/msm.2020.32.307-314.

ABSTRACT

INTRODUCTION: Vaccination is the best method for microbial and viral infections prevention. Especially for health professionals, flu vaccination is the best method to protect them, and the same applies for the patients and the general population from being infected. One of the most important preventive measure is vaccination and the main types of vaccines available, the limitations and side effects are briefly presented.

AIM: The aim of this paper is to present the necessity of the healthcare professionals to conceptualize the importance of flu vaccination ifor themselves and the general population. Healthcare professionals are influenced by their knowledge, attitudes, and beliefs. Epidemiological surveys on this issue are presented for Greece, European Union, and the USA.

METHODS: A broad scope literature review was conducted based on a strict selection process of articles referring to the general population and the healthcare professionals with emphasis on the time period from the fall of 2018 until the spring of 2020 across Greece. The method used in this research obtained information through bibliographical references throughout Europe, USA, and relevant studies in Greece.

RESULTS: The results of this research indicated that influenza vaccination among healthcare professionals in Greece in the time period 2018-2019 was higher in primary health centers (PHCs) with a percentage of 43.8% than in Hospitals which was 30.6%. In addition, in the time period 2019-2020 flu vaccination among health professionals was higher in PHCs with a percentage of 57.9% rather than in Hospitals with a percentage of 38.8%. Specifically, flu vaccination rate which took place in hospitals was higher among physicians than in other healthcare personnel. Furthermore, the fundamental reasons for recommending flu vaccination in healthcare professionals are presented, and issues related to denial or acceptance of it are highlighted. Measures and strategies are proposed in order to increase flu vaccination coverage in healthcare facilities in Greece.

CONCLUSIONS: Based on this research review healthcare professionals (HCPs) especially the ones working in ICUs, in ICUs for newborn children, in Departments for acute care infections, in Departments caring of persons with immunodeficiency or Units for transplantation, Oncology and Haematology Departments, and finally, in Emergency Care Units need directly to be vaccinated for the flu virus. Different measures have been undertaken to promote flu vaccination and the percentage of implementation has been highlighted.

PMID:33628135 | PMC:PMC7879438 | DOI:10.5455/msm.2020.32.307-314