IDF Patient & Family Handbook for Primary Immunodeficiency ... - IDFA

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chapter 6 Chronic Granulomatous Disease Chronic Granulomatous Disease (CGD) is a genetically determined (inherited) disease characterized by an inability of the body’s phagocytic cells (also called phagocytes) to make hydrogen peroxide and other oxidants needed to kill certain microorganisms.
Chronic Granulomatous Disease 31 Definition of Chronic Granulomatous Disease Chronic Granulomatous Disease (CGD) is a genetically determined (inherited) disease characterized by an inability of the body’s phagocytic cells (also called phagocytes) to make hydrogen peroxide and other oxidants needed to kill certain microorganisms. As a result of this defect in phagocytic cell killing, patients with CGD have an increased susceptibility to infections caused by certain bacteria and fungi. The condition is also associated with an excessive accumulation of immune cells into aggregates called granulomas (hence the name of the disease) at sites of infection or other inflammation. The term “phagocytic” (from the Greek, phagein, “to eat”) is a general term used to describe any white blood cell in the body that can surround and ingest microorganisms into tiny membrane packets in the cell. The membranes packets (also called phagosomes) are filled with digestive enzymes and other antimicrobial substances. In general, there are two main categories of phagocytic cells found in the blood, neutrophils and monocytes. Neutrophils (also called granulocytes or polymorphonuclear leukocytes [PMNs]) comprise 50-70% of all circulating white blood cells and are the first responders to bacterial or fungal infections. Neutrophils are short lived, lasting only about three days in the tissues after they kill microorganisms. Monocytes are the other type of phagocyte, making up about 1-5% of circulating white blood cells. Monocytes entering the tissues can live a long time, slowly changing into cells called macrophages or dendritic cells which help to deal with infections. Phagocytes look very much like amoeba in that they can easily change shape and crawl out of blood vessels and into tissues, easily squeezing between other cells. They can sense the presence of bacteria or fungus pathogens that cause an infection in the tissues and then, crawl rapidly to the site of infection. When the phagocytes arrive at the site of infection, they approach the microorganism and attempt to engulf it and contain it inside a pinched off piece of membrane that forms a sort of bubble, or membrane packet, inside the cell called a phagosome. The cell is then triggered to dump packets of digestive enzymes and other antimicrobial substances into the phagosome. The cell also produces hydrogen peroxide and other toxic oxidants that are secreted directly into the phagosome. The hydrogen peroxide works together with the other substances to kill and digest the infection microbe. Although phagocytes from patients with CGD can migrate normally to sites of infection, ingest infecting microbes and even dump digestive enzymes and other antimicrobial substances into the phagosome, they lack the enzyme machinery to make hydrogen peroxide and other oxidants. Thus, CGD patients’ phagocytes can defend against some types of infections, but not infections which specifically require hydrogen peroxide for control of the infection. Their defect in defense against infection is limited to only certain bacteria and fungi. CGD patients do have normal immunity to most viruses and to some kinds of bacteria and fungi. This is why CGD patients are not infected all the time. Instead they may go months to years without infections, and then experience episodes of severe life-threatening infections with microbes that especially require hydrogen peroxide for control. CGD patients make normal amounts and types of antibodies, so that unlike patients with inherited defects in lymphocyte function, CGD patients are not particularly susceptible to viruses. In summary, the phagocytic cells of patients with CGD fail to produce hydrogen peroxide, but otherwise retain many other types of antimicrobial activities. This leads CGD patients to be susceptible to infections with a special subset of bacteria and fungi. They have normal antibody production, normal T-cell function, and a normal complement system; in short, much of the rest of their immune system is normal.
Page 1 and 2: Patient & Family Handbook For Prima
Page 3 and 4: Patient & Family Handbook For Prima
Page 5 and 6: Patient and Family Handbook i Prefa
Page 7 and 8: Patient and Family Handbook iii Abo
Page 9 and 10: The Immune System and Primary Immun
Page 11 and 12: The Immune System And Primary Immun
Page 19 and 20: Common Variable Immune Deficiency c
Page 21 and 22: Common Variable Immune Deficiency 1
Page 23 and 24: X-Linked Agammaglobulinemia chapter
Page 25 and 26: X-Linked Agammaglobulinemia 17 Clin
Page 27 and 28: Selective IgA Deficiency chapter 4
Page 29 and 30: Selective IgA Deficiency 21 Clinica
Page 31 and 32: Severe Combined Immunodeficiency ch
Page 33 and 34: Severe Combined Immunodeficiency 25
Page 35 and 36: Severe Combined Immunodeficiency 27
Page 37: Severe Combined Immunodeficiency 29
Page 41 and 42: Chronic Granulomatous Disease 33 Di
Page 43 and 44: Chronic Granulomatous Disease 35 Tr
Page 45 and 46: Wiskott-Aldrich Syndrome 37 Definit
Page 47 and 48: Wiskott-Aldrich Syndrome 39 Maligna
Page 49 and 50: Wiskott-Aldrich Syndrome 41 Treatme
Page 51 and 52: Hyper IgM Syndrome 43 Definition of
Page 53 and 54: Hyper IgM Syndrome 45 Treatment of
Page 55 and 56: DiGeorge Syndrome 47 Definition of
Page 57 and 58: DiGeorge Syndrome 49 Therapy for Di
Page 59 and 60: IgG Subclass Deficiency and Specifi
Page 61 and 62: IgG Subclass Deficiency and Specifi
Page 63 and 64: Ataxia Telangiectasia 55 Definition
Page 65 and 66: Ataxia Telangiectasia 57 General Tr
Page 67 and 68: Hyper IgE Syndrome 59 Definition of
Page 69 and 70: Hyper IgE Syndrome 61 Inheritance o
Page 71 and 72: Complement Deficiencies 63 Definiti
Page 73 and 74: Complement Deficiencies 65 Treatmen
Page 75 and 76: Other Important Primary Immunodefic
Page 77 and 78: Other Important Primary Immunodefic
Page 79 and 80: Inheritance chapter 15 Many disease
Page 81 and 82: Inheritance 73 Types of Inheritance
Page 83 and 84: Inheritance 75 Types of Inheritance
Page 85 and 86: Inheritance 77 Reproductive Options
Page 87 and 88: Laboratory Tests chapter 16 Laborat
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Laboratory Tests 81 Major Categorie
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Laboratory Tests 83 Summary Laborat
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General Care 85 General Health Meas
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General Care 87 Exercise Participat
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General Care 89 General Care During
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General Care 91 General Care During
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Specific Medical Therapy 93 Introdu
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Specific Medical Therapy 95 General
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Specific Medical Therapy 97 Hematop
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Specific Medical Therapy 99 Granulo
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Specific Medical Therapy 101 PEG-AD
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Specific Medical Therapy 103 Gene T
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Infants and Children with Primary I
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Adolescents with Primary Immunodefi
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Adults with Primary Immunodeficienc
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Health Insurance chapter 22 Having
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Health Insurance 127 Who Are the
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Health Insurance 133 LIFETIME MAXIM
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Glossary 135 Gamma globulins: The p
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Glossary 137 Sepsis: An infection o
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Reference 139 NIH Clinical Trials w
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Reference 141 International Patient
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Reference 143 Manufacturing Compani
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Reference 145 Books For Youth Balkw
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