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

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18 X-Linked Agammaglobulinemia Inheritance of X-Linked Agammaglobulinemia X-Linked Agammaglobulinemia (XLA) is a genetic disease and can be inherited or passed on in a family. It is inherited as an X-linked recessive trait. (For more information on how X-Linked recessive traits are inherited, see chapter titled Inheritance.) It is important to know the type of inheritance so the family can better understand why a child has been affected, the risk that subsequent children may be affected and the implications for other members of the family. Now that the precise gene that causes XLA has been identified, it is possible to test the female siblings (sisters) of a patient with XLA, and other female relatives such as the child’s maternal aunts, to determine if they are carriers of the disease. Carriers of XLA have no symptoms, but have a 50% chance of transmitting the disease to each of their sons (see chapter titled Inheritance). In some instances, it is also possible to determine if a fetus of a carrier female will be born with XLA. Currently, these genetic tests are being performed in only a few laboratories. Treatment for X-Linked Agammaglobulinemia At this time, there is no way to cure patients who have X-Linked Agammaglobulinemia (XLA). The defective gene cannot be repaired or replaced, nor can the maturation of B-lymphocyte precursors to B-lymphocytes and plasma cells be induced. However, patients with XLA can be given some of the antibodies that they are lacking. The antibodies are supplied in the form of immunoglobulins (or gamma globulins), and can be given directly into the blood stream (intravenously) or under the skin (subcutaneously) (see chapter titled Specific Medical Therapy). The immunoglobulin preparations contain antibodies that substitute for the antibodies that the XLA patient can not make himself. They contain antibodies to a wide variety of microorganisms. Immunoglobulin is particularly effective in preventing the spread of infections into the bloodstream and to deep body tissues or organs. Some patients benefit from the use of oral antibiotics every day to protect them from infection or to treat chronic sinusitis or chronic bronchitis. Patients with XLA should not receive any live viral vaccines, such as live polio, or the measles, mumps, rubella (MMR) vaccine. Although uncommon, it is possible that live vaccines (particularly the oral polio vaccine) in agammaglobulinemia patients can transmit the diseases that they were designed to prevent. Expectations for X-Linked Agammaglobulinemia Patients Most X-Linked Agammaglobulinemia (XLA) patients who receive immunoglobulin on a regular basis will be able to lead relatively normal lives. They do not need to be isolated or limited in their activities. Active participation in team sports should be encouraged. Infections may require some extra attention from time to time, but children with XLA can participate in all regular school and extracurricular activities, and when they become adults can have productive careers and families. A full active lifestyle is to be encouraged and expected.
Selective IgA Deficiency chapter 4 Individuals with Selective IgA Deficiency lack IgA, but usually have normal amounts of the other types of immunoglobulins. Most affected people have no illness as a result. Others may develop a variety of significant clinical problems. Selective IgA Deficiency is relatively common in Caucasians.
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: X-Linked Agammaglobulinemia 17 Clin
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
Page 73 and 74: Complement Deficiencies 65 Treatmen
Page 75 and 76: 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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