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Recurrent Infection due to Specific Granule Deficiency

Neutrophil-Specific Granule Deficiency


Presentation

  • Infants may present with vomiting, diarrhea, and failure to thrive. [2] Diagnosis can be made based upon CEBPE gene mutation or a pathognomonic finding of a blood smear showing lack of specific granules.[en.wikipedia.org]
  • Introduction The differential diagnosis for a patient presenting with recurrent infections is challenging, given the complexity of the immune system.[pedsinreview.aappublications.org]
  • T-cell disorders usually present early in life. The most serious form of T-cell disorder, severe combined immunodeficiency (SCID), presents in infants as an emergent condition with life-threatening infections.[aafp.org]
  • Other infectious diseases present in their patients were CMV, Pneumocystis jirovecii, infectious diarrhoea, and tuberculosis.[jpma.org.pk]
Recurrent Infection
  • In the current studies, a 9-yr-old boy with a history of recurrent infections and specific granule deficiency (absent lactoferrin, B-12 binding proteins, and characteristic specific granules on sucrose gradient centrifugation of cell homogenates) was[bloodjournal.org]
  • "Lactoferrin deficiency as a consequence of a lack of specific granules in neutrophils from a patient with recurrent infections. Detection by immunoperoxidase staining for lactoferrin and cytochemical electron microscopy". Am. J.[en.wikipedia.org]
  • Anatomic lesions, whether congenital or acquired, are often responsible for recurrent infections. The initial approach to an adult patient with recurrent infections is discussed here.[bcervantes-primarycare.blogspot.com]
  • Keywords: Antibody deficiency, Primary immunodeficiency, Recurrent infection, Severe combined immunodeficiency How to cite this article: AlKhater SA. Approach to the child with recurrent infections.[jfcmonline.com]
  • Most patients who have recurrent infections do not have an identifiable phagocyte defect or immunodeficiency.[pedsinreview.aappublications.org]
Sepsis
  • In contrast, serum IL-8 levels were markedly elevated in the SGD individual compared with those of non-SGD individuals in sepsis.[ncbi.nlm.nih.gov]
  • Patients may also develop sepsis, mastoiditis, otitis media, and lymphadenopathy.[en.wikipedia.org]
  • […] in Patients Who Have No Primary Immunodeficiency Syndromes In general, evaluations should be initiated for those who have had at least one of the following clinical features within a 1-year period: 1) more than two systemic bacterial infections (eg, sepsis[pedsinreview.aappublications.org]
  • Bacteremia and sepsis — Patients with deficiency or dysfunction of mannose binding lectin, a component of the innate immune system that is involved in complement activation, may be at higher risk for bacteremia and sepsis [58,59].[bcervantes-primarycare.blogspot.com]
Recurrent Bacterial Infection
  • Abstract Neutrophil-specific granule deficiency (SGD) is a rare, congenital disease characterized by atypical neutrophil structure and function, resulting in recurrent bacterial infections from early infancy.[ncbi.nlm.nih.gov]
  • bacterial infections from early infancy [ 1 , 2 ].[link.springer.com]
  • […] actin Neutrophilia, recurrent bacterial infection without pus 45.[slideshare.net]
  • Phagocytic cell deficiencies Most of the defects of phagocytic cells present with recurrent bacterial infections.[theasthmacenter.org]
  • bacterial infections; hemolytic anemia Reduced levels of glucose-6-phosphate dehydrogenase Clinical testing available* Antibiotics Myeloperoxidase deficiency AR Mild, if any, susceptibility to infection Reduced levels of myeloperoxidase Generally none[what-when-how.com]
Physician
  • This book is a comprehensive yet manageable resource for physicians and nurses wishing to learn more about PID, as well as a useful tool for both doctors-in-training and specialists in clinical decision-making and treatment planning.[books.google.com]
  • C 3 Physicians should suspect a primary immunodeficiency disease in children who have unusually severe and recurrent infections with common pathogens, or infections with unusual pathogens.[aafp.org]
  • Similarities in the clinical presentation of neutrophil, antibody, and complement disorders can prove difficult for the physician attempting to establish a diagnosis.[pedsinreview.aappublications.org]
  • Therefore, physicians should be aware of recurrent infections caused by non-immunologic conditions (Table 1) and clinical clues suggestive of immunologic disorders (Table 2).[hawaii.edu]
  • Many physicians suggest that swimming should be confined to well-chlorinated pools. Brackish water in particular may expose patients to organisms that are specifically dangerous in CGD ( Francisella philomiragia, Chromobacterium violaceum ).[primaryimmune.org]
Malnutrition
  • Malnutrition.. .. .. Infection (congenital rubella, HIV infection, infectious mononucleosis and other such infections).. .. .. Protein-losing enteropathy.. .. .. Nephrosis.. .. .. Sickle cell disease.. .. ..[hawaii.edu]
  • AR) Hyper-IgE syndrome Job's syndrome (AR) Familial Mediterranean fever (AR) Chronic granulomatous disease Papillon-Lefevre syndrome (AR) Megaloblastic hypersegmentation Mucopolysaccharidoses Renal failure Diabetes Neonates Malnutrition Leukaemia Malnutrition[europeanmedical.info]
  • Malnutrition HIV infection: Although human immunodeficiency virus (HIV) infection is a considerable cause of immunodeficiency worldwide, immunocompromise is most likely to result from common problems, including asthma, diabetes, malnutrition, and cancer[emedicine.medscape.com]
  • The two commonest causes of secondary immunodeficiencies are malnutrition and HIV infection. [6] Other causes include malignancy such as lymphoma and leukemia, immunosuppressive medications and protein loss, including protein-losing enteropathy.[jfcmonline.com]
  • Other conditions in which secondary immunodeficiencies occur are sickle cell anemia, diabetes mellitus, protein calorie malnutrition, burns, alcoholic cirrhosis, rheumatoid arthritis, renal malfunction, etc.[microbiologybook.org]
Failure to Thrive
  • Infants may present with vomiting, diarrhea, and failure to thrive. [2] Diagnosis can be made based upon CEBPE gene mutation or a pathognomonic finding of a blood smear showing lack of specific granules.[en.wikipedia.org]
  • Diarrhea, failure to thrive, opportunistic infections, and severe routine infections in a child younger than three months should raise suspicion for SCID.[aafp.org]
  • Possible poor growth or failure to thrive. T-Cell and Combined Immunodeficiency:. .. .. Presentation in early infancy.. .. .. Poor growth or failure to thrive.. .. .. Persistent oral thrush.. .. .. Opportunistic infection. Phagocytic Defects:. .. ..[hawaii.edu]
  • […] to thrive Diagnosis IgG, IgA, IgE Normal or IgM Treatment Ataxia telangiectasia See ataxia telangiectasia.[amboss.com]
  • A combination of erythroderma of early onset with failure to thrive is highly suggestive of immunodeficiency .It is a rather non-specific feature of immunodeficiency in infancy. Eczema.[drmhijazy.com]
Ulcer
  • New Third Edition chapters cover bioterrorism, hospital infections, emerging infections, Kawasaki syndrome, transmissible spongiform encephalopathies, diabetic foot ulcers, decubitus ulcers, staphylococcal and streptococcal toxic shock syndrome, food[books.google.de]
  • Cutaneous ulcers or abscesses and pneumonia and chronic lung disease are common. Patients may also develop sepsis, mastoiditis, otitis media, and lymphadenopathy.[en.wikipedia.org]
  • Nodular lesions and necrotic ulcers. Subcutaneous nodules may develop at immunization sites, and these also tend in time to ulcerate.[drmhijazy.com]
  • […] infections caused by unusual pathogens (eg, Aspergillus pneumonia, disseminated candidiasis, infection with Serratia marcescens, Nocardia sp, Burkholderia cepacia) ; 6) infections of unusual severity; and 7) chronic gingivitis and recurring aphthous ulcers[pedsinreview.aappublications.org]
  • Other signs include skin lesions (eg, eczema, warts, abscesses, pyoderma, alopecia), oral or esophageal thrush, oral ulcers, and periodontitis.[merckmanuals.com]
Skin Ulcer
  • Viral infections manifesting with skin ulcerations particularly in the perineal area, the oral mucosa or the tongue. Severe varicella-zoster infections may also occur.[drmhijazy.com]
  • Chronic skin ulcers without pus can form and there is delayed wound healing.[jcp.bmj.com]
Foot Ulcer
  • New Third Edition chapters cover bioterrorism, hospital infections, emerging infections, Kawasaki syndrome, transmissible spongiform encephalopathies, diabetic foot ulcers, decubitus ulcers, staphylococcal and streptococcal toxic shock syndrome, food[books.google.de]
Suggestibility
  • These phenotypic and functional alterations of PB monocytes in the SGD individual suggest that C/EBPepsilon plays a critical role in monocyte/macrophage development of humans and is consistent with observations in the murine system.[ncbi.nlm.nih.gov]
  • Abstract It has been suggested that neutrophil (PMN) specific granules are important in cell aggregation, locomotion, hydroxyl radical formation, and in extracellular functions such as the generation of complement- related inflammatory mediators (C5a)[bloodjournal.org]
  • […] majority of patients with SGD have been found to have mutations in the CEBPE (CCAAT/enhancer-binding protein epsilon) gene, a transcription factor primarily active in myeloid cells. [3] Almost all patients have been found to be homozygous for the mutation, suggesting[en.wikipedia.org]
  • […] of NF–kappa B regulation, and abnormalities in IL-2RG suggest SCID.[merckmanuals.com]
  • The presence of family members with a similar disease, recurrent infections, unexplained death, malignancy, or autoimmune disease suggests the possibility of a genetic illness.[jfcmonline.com]
Encephalopathy
  • New Third Edition chapters cover bioterrorism, hospital infections, emerging infections, Kawasaki syndrome, transmissible spongiform encephalopathies, diabetic foot ulcers, decubitus ulcers, staphylococcal and streptococcal toxic shock syndrome, food[books.google.de]
  • Eosinophilic fasciitis, pneumonitis, and myocarditis; neuropathy culminating in respiratory failure; and encephalopathy may occur. The disease is caused by ingesting contaminants in L-tryptophan–containing products.[benhhoc.com]

Workup

  • Resources on Primary Immunodeficiency Diseases for Physicians and Patients Resource Website Comments European Society for Immunodeficiencies Includes diagnostic workup and criteria for 19 primary immunodeficiency diseases; registry Immune Deficiency Foundation[aafp.org]
  • The immunologic workup of the child suspected of immunodeficiency. Ann Allergy Asthma Immunol 2001;87(5):362-370. 4. Paul ME, Shearer WT. Chapter 33- Approach to the Evaluation of the Immunodeficient Patient. In: Rich RR, Fleisher TA (eds).[hawaii.edu]
Pelger-Huet Anomaly
  • Neutrophils and eosinophils will contain hyposegmented nuclei (a pseudo- PelgerHuet anomaly ).[en.wikipedia.org]
  • (b) Pelger-Huet anomaly with a bilobed nucleus. (c) Alder-ReiHy anomaly with prominent purple granules (also in monocytes and lymphocytes). (d) May-Hegglin anomaly with Döhle bodies in the cytoplasm. (e) Toxic granulation.[europeanmedical.info]
  • Acquired bilobed nuclei, pseudo Pelger-Huet anomaly, can occur with acute infections or in myelodysplastic syndromes.[benhhoc.com]
Human Herpesvirus 6
  • This edition provides complete coverage of newer viruses such as human herpesvirus 6 and 8, West Nile virus, hepatitis C, D, and E, hantaviruses, caliciviruses, and astroviruses, as well as recently discovered microorganisms such as Escherichia coli 0157[books.google.de]
  • Human herpesvirus 6 (HHV-6) disease in the setting of transplantation. Curr Opin Infect Dis. 2012 Aug. 25(4):438-44. [Medline]. Özkan H, Köksal N, Çetinkaya M, Kiliç S, Çelebi S, Oral B, et al.[emedicine.medscape.com]
Helicobacter Pylori
  • pylori, Chlamydia pneumoniae, Bartonella, and microsporidia.[books.google.de]
  • Pylori Infection Hematopoietic Stem Cell Transplantation Hemochromatosis, Neonatal Hemorrhagic Fever With Renal Failure Syndrome Hemosiderosis Hepatitis A Hepatitis B Hepatitis C Hepatoblastoma Hepatocellular Carcinoma Hepatorenal Syndrome Herpes Simplex[emedicine.medscape.com]
Chlamydia
  • […] complete coverage of newer viruses such as human herpesvirus 6 and 8, West Nile virus, hepatitis C, D, and E, hantaviruses, caliciviruses, and astroviruses, as well as recently discovered microorganisms such as Escherichia coli 0157, Helicobacter pylori, Chlamydia[books.google.de]
  • Variants in toll-like receptor 1 and 4 genes are associated with Chlamydia trachomatis among women with pelvic inflammatory disease. J Infect Dis. 2012 Feb 15. 205(4):603-9. [Medline]. [Full Text].[emedicine.medscape.com]

Treatment

  • Stay at the forefront of your field with updated treatment methods throughout, as well as an increased focus on patients with skin of color.[books.google.com]
  • You can help by adding to it. ( December 2017 ) Treatment [ edit ] Treatment consists mainly of high dose antibiotics for active infections and prophylactic antibiotics for prevention of future infections.[en.wikipedia.org]
  • This book is a comprehensive yet manageable resource for physicians and nurses wishing to learn more about PID, as well as a useful tool for both doctors-in-training and specialists in clinical decision-making and treatment planning.[books.google.com]
  • Blacklow Lippincott Williams & Wilkins, 2004 - 2515 Seiten The Third Edition of this definitive reference provides comprehensive guidelines on the diagnosis, treatment, and prevention of every infectious disease seen in current clinical practice.[books.google.de]
  • : no specific treatment or prophylaxis is indicated.[amboss.com]

Prognosis

  • GM-CSF therapy or bone marrow transplant might be considered for severe cases. [2] Prognosis is difficult to predict, but patients receiving treatment are generally able to survive to adulthood.[en.wikipedia.org]
  • The prognosis in primary immunodeficiency disorders is variable and depends on the specific disorder. Congenital B-cell immunodeficiencies B-cell defects ( humoral immunity deficiencies ) account for 50–60% of all primary immunodeficiencies.[amboss.com]
  • Prognosis depends on the primary immunodeficiency disorder.[merckmanuals.com]
  • Because the prognosis is poor, early bone marrow transplantation is strongly recommended for GS-2.[primaryimmune.org]

Etiology

  • Selective IgA deficiency ( SIgAD ) Definition : the most common primary immunodeficiency with near or total absence of serum and secretory IgA Epidemiology : approx. 1/220 to 1/1000 Etiology : unknown Clinical features Often asymptomatic May manifest[amboss.com]
  • Defects of microbial killing Disorder Etiology Clinical consequence Chronic granulomatous disease AR/XLR defective NADPH oxidase G6PD deficiency 47. HOW TO EVALUATE A PATIENT OF DEFECTIVE PHAGOCYTOSIS ? Phagocytosis: Dr.Vinaykumar.[slideshare.net]
  • Very rare clinical syndrome, only 5 cases world wide What is the etiology of LAD II? Cause of LAD II is a mutation in the gene encoding GDP fucose mebrane transporter.[quizlet.com]
  • The etiology of this disorder is unknown and may be related to abnormal immune regulation. Attempts at treatment should be reserved for special circumstances that are potentially life threatening.[what-when-how.com]
  • The etiology and subsequent approach varies according to the type and pattern of infections present.[bcervantes-primarycare.blogspot.com]

Epidemiology

  • Epidemiology [ edit ] Estimation of the frequency of SGD is difficult, as it is an extremely rare disease with few cases reported in literature. The condition was first reported in 1980, and since only a handful more cases have been published.[en.wikipedia.org]
  • Selective IgA deficiency ( SIgAD ) Definition : the most common primary immunodeficiency with near or total absence of serum and secretory IgA Epidemiology : approx. 1/220 to 1/1000 Etiology : unknown Clinical features Often asymptomatic May manifest[amboss.com]
  • Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for CEBPE Gene - elite association - COSMIC cancer census association via MalaCards Relevant External Links for CEBPE Genetic Association Database (GAD) CEBPE Human Genome Epidemiology[genecards.org]
  • Tamra Carlson - 2019-03-11 15:17 Disease Topic Inherited T-Cell Deficiency Disorders granulomatous disease (CGD) Neutrophil disorders Epidemiology Incidence – rare Age – most commonly discovered ...[arupconsult.com]
  • Bacterial meningitis — The epidemiology of recurrent bacterial meningitis was evaluated in a review of 493 episodes in 445 adults seen at a single center in Boston from 1962 to 1988 [51].[bcervantes-primarycare.blogspot.com]
Sex distribution
Age distribution

Pathophysiology

  • Although the book’s primary focus is on practical diagnosis and management, the pathophysiology of PID is also discussed.[books.google.com]
  • Molecular and Systemic Pathophysiology C/EBPε is a member of the C/EBP family of transcription factors, which share a highly conserved basic region and a leucine zipper domain.[link.springer.com]
  • One patient, heterozygous for the mutation, was found to be deficient in GFI1, a related gene. [4] Pathophysiology [ edit ] The defect in CEBPE appears to block the ability of neutrophils to mature past the promyelocyte stage in bone marrow. [3] Since[en.wikipedia.org]
  • Meningococcal vaccine Prophylactic antibiotics C3 deficiency Definition : deficiency of the complement factor C3 and its cleaved fragments (e.g., C3b) Etiology : primary or secondary due to impairment in the regulatory proteins factor I or factor H Pathophysiology[amboss.com]
  • Neutrophil Diseases in Humans Immunodeficiency diseases afford novel insight into both normal function and pathophysiology.[journal.frontiersin.org]

Prevention

  • Blacklow Lippincott Williams & Wilkins, 2004 - 2515 Seiten The Third Edition of this definitive reference provides comprehensive guidelines on the diagnosis, treatment, and prevention of every infectious disease seen in current clinical practice.[books.google.de]
  • You can help by adding to it. ( December 2017 ) Treatment [ edit ] Treatment consists mainly of high dose antibiotics for active infections and prophylactic antibiotics for prevention of future infections.[en.wikipedia.org]
  • To prevent graft-vs-host disease after transfusions, clinicians should use blood products from cytomegalovirus-negative donors; the products should be filtered to remove WBCs and irradiated (15 to 30 Gy).[merckmanuals.com]
  • Women with frequent recurrences often benefit from prevention strategies, including antibiotic prophylaxis that is given after intercourse. (See "Recurrent urinary tract infection in women", section on Prevention strategies).[bcervantes-primarycare.blogspot.com]
  • To prevent transfusion reactions, IgA deficient patients must be given washed blood products without IgA or obtain blood from an IgA -deficient donor.[amboss.com]

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