Richard Stiehm, professor of paediatrics in the division of allergy, immunology and rheumatology at Mattel Children's Hospital at the University of California at Los Angeles (UCLA), was presented with the 2007 Abbott Laboratories Award. [books.google.com]

In most cases one of the well recognized molecular defects is present but restricted clones of aberrant lymphocytes are present. [aacijournal.biomedcentral.com]

Some atopic disease is present in about 50% of symptomatic patients, 3. [web2.uwindsor.ca]

Extensive use of antibiotics may mask the classic presentation of many primary immunodeficiency diseases. [clinicalgate.com]

Presentation on theme: "IMMUNE SYSTEM. PECULIARITIES of ITS FUNCTIONING"— Presentation transcript: 1 IMMUNE SYSTEM. PECULIARITIES of ITS FUNCTIONING IMMUNE SYSTEM. PECULIARITIES of ITS FUNCTIONING. INSPECTION METHODS IN CHILDREN. SEMIOTICS. [slideplayer.com]

• Splenomegaly

  occasional lymphadenopathy splenomegaly, occasional lymphadenopathy cervical adenopathy in children not seen rare hepatosplenomegaly, adenopathy vasculitis Henoch-Schonlein purpura (HSP), polyarteritis nodosa HSP, lymphocytic vasculitis cutaneous vasculitis [ufrgs.br]

  Diseases associated with splenomegaly and neutropenia include sarcoidosis, lymphoma, tuberculosis, malaria, kala-azar, and Gaucher disease. Usually there is thrombocytopenia and anemia as well. [medtextfree.wordpress.com]

  […] infections, autoimmune disorders (eg, immune thrombocytopenia, autoimmune hemolytic anemia), malabsorption, giardiasis, granulomatous interstitial lung disease, nodular lymphoid hyperplasia of GI tract, bronchiectasis, lymphoid interstitial pneumonia, splenomegaly [merckmanuals.com]

  […] dermatomyositis with chronic enterovirus encephalitis X-linked agammaglobulinemia Sinopulmonary infections, neurologic deterioration, telangiectasia Ataxia-telangiectasia Recurrent neisserial meningitis C6, C7, or C8 deficiency Sinopulmonary infections, splenomegaly [clinicalgate.com]

  The most common presentation is with lymphadenopathy and marked splenomegaly at around two years of age. Hepatomegaly is present in approximately 75%[ 34 ]. Occasionally patients present with only lymphadenopathy or splenomegaly. [aacijournal.biomedcentral.com]

• Inflammation

  These topics are followed by discussions of the fundamental issues of tolerance, inflammation, immunological mediators and amplifiers, and immunogenetics. [books.google.com]

  In Vitro Studies of Tolerance and Underlying Mechanisms References Inflammation I. Introduction II. Vascular Phase III. Cellular Phase IV. Lymphatics V. Mediators VI. Control of Inflammation VII. Chronic Inflammation VIII. [elsevier.com]

  Because these patients cannot mobilize neutrophils to sites of inflammation when they develop infections, extreme neutrophilia is observed (see Chap. 72). [medtextfree.wordpress.com]

  An erythrocyte sedimentation rate (ESR) and C-reactive protein level should be assessed for evidence of inflammation or lack thereof. [aneskey.com]

  Stomatitis, gingivitis, perirectal inflammation, recurrent otitis media, cellulitis, pneumonia, and septicemia are potential clinical complications. [musculoskeletalkey.com]

• Infectious Mononucleosis

  Infectious mononucleosis, the most common clinical manifestation, affects 60% of patients and median age at onset is 3 years. 26 Clinical signs include fever, pharyngitis, rash, lymphadenopathy, and hepatosplenomegaly. [plasticsurgerykey.com]

  FREQUENTLY RECOGNIZED CAUSES OF ACQUIRED NEUTROPENIA Infection Viral: hepatitis A and B, varicella, influenza A, measles, rubella, herpes simplex virus, respiratory syncytial virus, cytomegalovirus, infectious mononucleosis, human immunodeficiency virus [musculoskeletalkey.com]

  mononucleosis X-linked lymphoproliferative syndrome Recurrent staphylococcal abscesses, staphylococcal pneumonia with pneumatocele formation, coarse facial features, pruritic dermatitis Hyper-IgE syndrome Persistent thrush, nail dystrophy, endocrinopathies [clinicalgate.com]

  mononucleosis with liver failure, B-cell lymphomas, splenomegaly, aplastic anemia Zeta-associated protein 70 (ZAP-70) deficiency Autosomal recessive ZAP-70 Common and opportunistic infections No CD8 cells AIRE autoimmune regulator; CD clusters of differentiation [merckmanuals.com]

  The differential diagnosis includes acute viral infections, particularly infectious mononucleosis and infectious hepatitis, and acute bacterial sepsis. [medtextfree.wordpress.com]

• Anorexia

  Advanced states of malnutrition, such as anorexia nervosa, marasmus in infants, and copper deficiency, may be complicated by neutropenia. [musculoskeletalkey.com]

  Devuyst O, Lambert M, Rodhain J, et al: Haematological changes and infectious complications in anorexia nervosa: a case-control study. Q J Med 86:791, 1993. 71. Marinone G, Roncoli B, Marinone MG Jr.: Pure white cell aplasia. [medtextfree.wordpress.com]

  […] as in the introns II and IV. 74, 23 The diagnosis usually is made in the first year of life, especially in the presence of a family history of the condition. 75 The neutropenic periods last for 3 to 6 days and often are accompanied by fever, malaise, anorexia [oncohemakey.com]

  Type B and Ectrodactyly OMIM:106995 Anonychia-Onychodystrophy with Hypoplasia or Absence of Distal Phalanges OMIM:607214 Anonychia, Total, with Microcephaly OMIM:106750 Anonychia with Flexural Pigmentation OMIM:107100 Anorectal Anomalies OMIM:606788 Anorexia [informatics.jax.org]

• Pathologist

  SNOMED CT (R) was originally created by The College of American Pathologists. "SNOMED" and "SNOMED CT" are registered trademarks of the IHTSDO." [doctor.am]

  […] drug-caused reasons of neutropenia; then, receive the following laboratory research: full blood rely: together with a manual differential in evaluating instances of agranulocytosisDifferential white blood cell countPeripheral smear assessment by way of a pathologist [allergyandimmunology.blogspot.com]

• Pharyngitis

  During the neutropenic phase, patients may suffer with fever, malaise, oral ulcers, stomatitis, pharyngitis, and lymphadenopathy. [musculoskeletalkey.com]

  Failure of third and fourth pharyngeal arches. Eaton-Lambert Syndrome: Bronchial carcinoma (small cell carcinoma) causing muscle debility Edward’s Syndrome: Trisomy 18. Pinched facial appearance (small head and malformed/low set ears).MR. [studystack.com]

  […] it has not been associated with evidence of joint destruction.11 The symptoms are nearly always reversed with gamma globulin replacement.12 THYMIC HYPOPLASIA (DIGEORGES SYNDROME) Abnormal embryologie development of derivatives of the third and fourth pharyngeal [healio.com]

  Infectious mononucleosis, the most common clinical manifestation, affects 60% of patients and median age at onset is 3 years. 26 Clinical signs include fever, pharyngitis, rash, lymphadenopathy, and hepatosplenomegaly. [plasticsurgerykey.com]

  pneumococcal pneumonia, staphylococcal abscesses, or streptococcal pharyngitis, have neutrophilia. [medtextfree.wordpress.com]

• Periodontitis

  […] teeth due to periodontal diseases, unspecified class 2016 2017 2018 2019 Billable/Specific Code Complete loss of teeth due to periodontal diseases, class III Complete loss of teeth due to periodontal dis, class III; Complete edentulism due to periodontal [icd10data.com]

  […] especially Chronic granulomatous disease Recurrent abscesses or cellulitis Chronic granulomatous disease, hyper-IgE syndrome, leukocyte adhesion defect Oral ulcers Chronic granulomatous disease, severe combined immunodeficiency, congenital neutropenia Periodontitis [clinicalgate.com]

  Findings of ocular telangiectasia, tympanic membrane scarring, tonsillar absence, lymphadenopathy, periodontitis, dental erosions, gingivostomatitis, mucocutaneous candidiasis, eczema, vitiligo, oculocutaneous albinism, hepatosplenomegaly, clubbing or [aneskey.com]

  […] osteomyelitis; pneumonia; staphylococcal, gram-negative, and aspergillus infections Leukocyte adhesion deficiency Autosomal recessive ITGB2 gene, encoding CD18 of beta-2 integrins (type 1) GDP-fucose transporter gene (type 2) Soft-tissue infections, periodontitis [merckmanuals.com]

  […] and otitisSymptoms of pneumonia (eg, cough, dyspnea)Perirectal ache and infection patients with agranulocytosis frequently current with the following: sudden onset of malaiseSudden onset of fever, presumably with chills and prostrationStomatitis and periodontitis [allergyandimmunology.blogspot.com]

• Pyorrhea

  Retardation Syndrome 3; APMR3 OMIM:601217 Alopecia-Mental Retardation Syndrome with Convulsions and Hypergonadotropic Hypogonadism OMIM:612079 Alopecia, Neurologic Defects, and Endocrinopathy Syndrome; ANES OMIM:104130 Alopecia, Psychomotor Epilepsy, Pyorrhea [informatics.jax.org]

Immunoglobulin titers and accurate allergy diagnostic workups were strongly recommended in these patients to provide specific treatments for symptom alleviation. [6] X-linked agammaglobulinemia Features of this disorder are as follows: The disorder affects [emedicine.medscape.com]

[…] or larger)fast pulse and respirationHypotension and signs of septic shock if infection has been presentPainful aphthous ulcers within the oral cavitySwollen and gentle gums See scientific Presentation for extra detail. prognosis earlier to an immense workup [allergyandimmunology.blogspot.com]

• Immunoglobulin A Decreased

  The IgM level is elevated; the levels of all the other immunoglobulins are decreased. Recurrent infections of the upper and lower respiratory tracts beginning during the first 2 years of life are common. [emedicine.medscape.com]

• Uric Acid Increased

  PURINE NUCLEOSIDE PHOSPHORYLASE DEFICIENCY  PNP degrades Purines to Hypoxanthine and finally to uric acid  Increased dGTP levels  Hypoplastic anemia  Recurrent Pneumonia  Diarrhea  Candidiasis  Low serum uric acid helps in diagnosis  Allogenic [slideshare.net]

• Staphylococcus Aureus

  aureus and Pseudomonas aeruginosa infections) C complement; MASP mannose-binding lectin-associated serine protease; MBL mannose-binding lectin. [merckmanuals.com]

  Common pathogens include Staphylococcus aureus, Escherichia coli, and Pseudomonas. Recombinant G-CSF is effective treatment, leading to increased numbers of neutrophils and decreased infectious complications. [musculoskeletalkey.com]

  HYPER IgE SYNDROME  Early onset Eczema  Recurrent bacterial infections such as abscess, Pneumonia and secondary infections of Eczema  Staphylococcus aureus  Streptococcus pyogenes  IgE levels are more than 10 times the normal level 38. [slideshare.net]

  The encapsulated bacteria Streptococcus pneumoniae, Streptococcus pyogenes, Haemophilus influenzae, and Staphylococcus aureus are the most common pathogens. [emedicine.medscape.com]

Treatment is required for pancreatic insufficiency to maximize nutrition and growth. Aggressive antibiotic treatment is required for infections. [aacijournal.biomedcentral.com]

 Treatment? 44. THANK YOU [slideshare.net]

This treatment was without effect in SCID patients (Fundenberg, 1980). [web2.uwindsor.ca]

Our pediatric cardiologists treat a wide variety of diseases and conditions and perform most pediatric cardiology related treatments and procedures. [mednax.com]

Recombinant G-CSF is effective treatment, leading to increased numbers of neutrophils and decreased infectious complications. [musculoskeletalkey.com]

Cytogenetic prognosis and cell-go with the flow diagnosis of the aspirate may be indicated. [allergyandimmunology.blogspot.com]

Although levels of IgM and IgD may be normal or high, high levels of IgM are actually found in fewer than one-third of patients. 62 Prognosis, Clinical Course, and Treatment The leading causes of death are pneumonia, encephalitis, and malignancy. [plasticsurgerykey.com]

It is helpful to identify the molecular diagnosis as this can contribute to understanding of prognosis and therefore the most appropriate management. [aacijournal.biomedcentral.com]

Affected individuals generally use to die by the age of ten but more recently prognosis has generally improved (Fundenberg, 1980). [web2.uwindsor.ca]

Similarly, elevated white cell counts have been associated with increased cancer mortality independent of smoking history.132 In patients with cancer, subarachnoid hemorrhage, and other serious inflammatory conditions, neutrophilia portends a less favorable prognosis [medtextfree.wordpress.com]

The etiology of neutropenia can conceptually be viewed in 2 huge methods, through mechanism or etiologic category. [allergyandimmunology.blogspot.com]

Etiological Clues References Allergy I. Introduction II. The Target Cells III. The Antibodies IV. The Allergens V. Mediators VI. The Interaction between Cell-Bound IgE and Allergen VII. [elsevier.com]

[…] males and females equally and results from defects in the genes that encode for components of the pre-B cell and B cell receptors or in BLNK, a scaffold protein that assembles signaling molecules associated with the pre-B cell and B cell receptor. 23 Etiology [plasticsurgerykey.com]

Rapid and progressive pulmonary fibrosis in 2 families with DNA repair deficiencies of undetermined etiology. The Journal of Pediatrics. 160: 700-702.e3. [academictree.org]

Malech HL, Nauseef WM: Primary inherited defects in neutrophil function: etiology and treatment. Semin Hematol 34:279, 1997. 39. [medtextfree.wordpress.com]

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]

Kuemmerle Definition and Epidemiology Our immune system is the result of millions of years of evolution all leading to one overarching goal: to protect us from our environment. [aneskey.com]

Weingarten MA, Pottick-Schwartz EA, Brauner A: The epidemiology of benign leukopenia in Yemenite Jews. Isr J Med Sci 29:297, 1993. 3. [medtextfree.wordpress.com]

Radiation exposure, the ATM Gene, and contralateral breast cancer in the women's environmental cancer and radiation epidemiology study. Journal of the National Cancer Institute. 102: 475-83. [academictree.org]

Several additional clinical syndromes have evidence of ineffective granulopoiesis as a common pathophysiologic characteristic. [musculoskeletalkey.com]

Pathophysiology Primary immunodeficiencies are by definition congenital, and many arise from single-gene defects, although others come under the influence of multiple genes. [aneskey.com]

Welte K, Dale DC: Pathophysiology and treatment of severe chronic neutropenia. Ann Hematol 72:158, 1996. 54. Fowler B: Genetic defects of folate and cobalamin metabolism. Eur J Pediatr 157:S60, 1998. 55. [medtextfree.wordpress.com]

PATHOPHYSIOLOGIC MECHANISMS Neutropenia occurs because of (1) hypoplastic neutropoiesis, (2) ineffective neutropoiesis (resulting from exaggerated apoptosis of late precursors), (3) accelerated removal or utilization of circulating neutrophils, (4) shifts [oncohemakey.com]

Prevention of GvHD by irradiation of granulocytes, platelets and packed red blood cells given to immunosuppressed patients is recommended to prevent this often fatal disease 1984 S. [karger.com]

Which of the following statement about 'interferon' is not true: A It is a glycoprotein B Produced by vertebrate host cells as a defence mechanism C Produced only in response to viral infection D Acts by preventing translation of viral RNA E It is species [gradestack.com]

Our team’s expertise spans the full range of fetal, pediatric and adult congenital cardiovascular care, including imaging, preventive cardiology, interventional cardiology and advanced arrhythmia management. [mednax.com]

However, this mechanism must be controlled to prevent unwanted effects and malignant transformation in chronically activated cells. [aacijournal.biomedcentral.com]

DEFICIENCIES  Reported in 1% of all patients with recurrent infection  Isolated Ig A deficiency reported in 0.2% of normal population  Increased susceptibility to respiratory infections  Steatorrhea  Atopic disorders  Anti IgA antibodies present  Preventive [slideshare.net]