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

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14 Common Variable Immune Deficiency Genetics and Inheritance of Common Variable Immune Deficiency Due to the unclear genetic nature of CVID, a clear pattern of inheritance has not been defined. In some instances, more than one family member is found to be deficient in one or more types of immunoglobulins. For example, it is not unusual for one family member to have CVID while another may have selective IgA deficiency (see chapter titled Selective IgA Deficiency). In the past few years, mutations in several different genes have been found to be associated with CVID. These include inducible co-stimulatory (ICOS) in one family and a protein on B-cells (CD19) in several families as causes of autosomal recessive CVID. Mutations in a cell receptor (TACI) for two factors (BAFF or APRIL) needed for normal growth and regulation of B-cells have also been found in about 10% of patients with CVID. A causative role of these mutations in the immune defect is not yet clear since some of these mutations can be found in people with normal immunoglobulins. Treatment for Common Variable Immune Deficiency The treatment of CVID is similar to that of other disorders characterized by low levels of serum immunoglobulins. In the absence of a significant T-lymphocyte defect or organ damage, immunoglobulin replacement therapy almost always brings improvement of symptoms. Immunoglobulin is extracted from a large pool of human plasma consisting mostly of IgG and containing all the important antibodies present in the normal population (see chapter titled Specific Medical Therapy). Patients with chronic sinusitis or chronic lung disease may also require long-term treatment with broad-spectrum antibiotics. If mycoplasma or chlamydia infections are suspected, antibiotics specific for those organisms may be indicated. If bronchiectasis has developed, physical therapy and daily postural drainage are needed to remove the secretions from the lungs and bronchi. Patients with gastrointestinal symptoms and malabsorption are evaluated for the presence of Giardia lamblia, rotavirus and a variety of other gastrointestinal infections. Most patients with immunodeficiency and arthritis respond favorably to treatment with immunoglobulin replacement therapy. Expectations for Common Variable Immune Deficiency Patients Immunoglobulin replacement therapy combined with antibiotic therapy has greatly improved the outlook of patients with CVID. The aim of the treatment is to keep the patient free of infections and to prevent the development of chronic lung disease. The outlook for patients with CVID depends on how much damage has occurred to their lungs or other organs before diagnosis and treatment with immunoglobulin replacement therapy and how successfully infections can be prevented in the future by using immunoglobulin and antibiotic therapy.
X-Linked Agammaglobulinemia chapter 3 The basic defect in X-Linked Agammaglobulinemia is a failure of B-lymphocyte precursors to mature into B-lymphocytes and ultimately plasma cells. Since they lack the cells that are responsible for producing immunoglobulins, these patients have severe deficiencies of immunoglobulins.
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: Common Variable Immune Deficiency 1
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 39 and 40: Chronic Granulomatous Disease 31 De
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
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Complement Deficiencies 65 Treatmen
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Other Important Primary Immunodefic
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Other Important Primary Immunodefic
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Inheritance chapter 15 Many disease
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Inheritance 73 Types of Inheritance
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Inheritance 75 Types of Inheritance
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Inheritance 77 Reproductive Options
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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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