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

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chapter 11 Ataxia Telangiectasia Ataxia Telangiectasia (A-T) is a primary immunodeficiency disease which affects a number of different organs in the body. It is characterized by: neurologic abnormalities resulting in an unsteady gait (ataxia), dilated blood vessels (telangiectasia) of the eyes and skin, a variable immunodeficiency involving both cellular (T-lymphocyte) and humoral (B-lymphocytes) immune responses and a predisposition to cancer.
Ataxia Telangiectasia 55 Definition of Ataxia Telangiectasia Ataxia Telangiectasia (A-T) is a primary immunodeficiency disease which affects a number of different organs in the body. It is characterized by: neurologic abnormalities resulting in an unsteady gait (ataxia), dilated blood vessels (telangiectasia) of the eyes and skin, a variable immunodeficiency involving both cellular (T-lymphocyte) and humoral (B-lymphocytes) immune responses and a predisposition to cancer. Clinical Presentation of Ataxia Telangiectasia The first presenting symptom is generally ataxia, a medical term used to describe an unsteady gait. Children with Ataxia Telangiectasia (A-T) may sway when they stand or sit and they wobble or stagger when they walk. Ataxia usually results from neurologic abnormalities affecting a part of the brain (the cerebellum) that controls balance. A-T first becomes apparent when the child begins to walk, typically between 12 and 18 months of age. At this early point in time, many children are thought to have cerebral palsy or an undefined neurologic disorder. The specific diagnosis of A-T may be difficult to make when symptoms first appear. Later, neurological symptoms include abnormalities in eye movements, including rapidly alternating twitches of the eyes (nystagmus) and difficulty in initiating voluntary eye movements (oculomotor apraxia). Patients with A-T also develop difficulty using the muscles needed for speech (dysarthria) and swallowing. Often, the diagnosis of A-T is only suspected when the neurologic problems start to become progressively worse, typically at age 5-6 years. Dilated blood vessels (telangiectasia) become apparent after the onset of the ataxia, generally between 2 and 8 years of age. Telangiectasia usually occurs on the white portion of the eye (bulbar conjunctiva) but may also be found on the ears, neck and extremities. However, telangiectasia does not develop in all people with A-T. Another clinical feature of A-T is an increased susceptibility to infections. This symptom is a major feature in some individuals. Infections most commonly involve the lungs and sinuses and are usually caused by bacteria or viruses. The infections are, at least in part, due to the variable immunodeficiency seen in A-T. Another factor that may contribute to lung infections is the swallowing dysfunction that results in aspiration with solid food and liquid going down the passageway to the lungs (the trachea) instead of the passageway to the stomach (the esophagus). Patients with A-T may have defects in both their T-lymphocyte system and B-lymphocyte system. They may have reduced numbers of T-lymphocytes in their blood. These abnormalities in T-lymphocytes are usually associated with a small or immature thymus gland. The low number of T-lymphocytes generally does not increase the patient’s susceptibility to infection. Most patients with A-T produce some antibody responses against foreign antigens, such as microorganisms, but some of these responses may be impaired, particularly those responses directed against the large sugar molecules (polysaccharides) found on the outside of bacteria that cause respiratory infections. These disordered antibody responses may be associated with low levels of immunoglobulins—especially deficiencies of IgA, IgE and IgG subclasses (see chapter titled IgG Subclass Deficiency and Specific Antibody Deficiency). Finally, patients with A-T have an increased risk for developing cancer, particularly cancers of the immune system, such as lymphoma and leukemia.
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Patient & Family Handbook For Prima
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Patient & Family Handbook For Prima
Page 5 and 6:
Patient and Family Handbook i Prefa
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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 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: IgG Subclass Deficiency and Specifi
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
Page 89 and 90: Laboratory Tests 81 Major Categorie
Page 91 and 92: Laboratory Tests 83 Summary Laborat
Page 93 and 94: General Care 85 General Health Meas
Page 95 and 96: General Care 87 Exercise Participat
Page 97 and 98: General Care 89 General Care During
Page 99 and 100: General Care 91 General Care During
Page 101 and 102: Specific Medical Therapy 93 Introdu
Page 103 and 104: Specific Medical Therapy 95 General
Page 105 and 106: Specific Medical Therapy 97 Hematop
Page 107 and 108: Specific Medical Therapy 99 Granulo
Page 109 and 110: Specific Medical Therapy 101 PEG-AD
Page 111 and 112: 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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