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

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chapter 7 Wiskott-Aldrich Syndrome Wiskott-Aldrich syndrome is a primary immunodeficiency disease involving both T- and B-lymphocytes. In addition, the blood cells that help control bleeding, called platelets are also affected. The classic form of Wiskott-Aldrich syndrome has a characteristic pattern of findings that include an increased tendency to bleed caused by a reduced number of platelets, recurrent bacterial, viral and fungal infections and eczema of the skin. With the identification of the gene responsible for this disorder, we now recognize that milder forms of the disease also occur that express some, but not all, of the above symptoms.
Wiskott-Aldrich Syndrome 37 Definition of Wiskott-Aldrich Syndrome In 1937, Dr. Wiskott described three brothers with low platelet counts (thrombocytopenia), bloody diarrhea, eczema and recurrent ear infections. Seventeen years later, in 1954, Dr. Aldrich demonstrated that this syndrome was inherited as an X-linked recessive trait (see chapter titled Inheritance). In the 1950s and 60s, the features of the underlying immunodeficiency were identified, and Wiskott-Aldrich syndrome joined the list of primary immunodeficiency diseases. Wiskott-Aldrich syndrome (WAS) is a primary immunodeficiency disease involving both T- and B-lymphocytes. Platelets—blood cells responsible for controlling bleeding—are also severely affected. In its classic form, WAS has a characteristic pattern of findings that include: 1. Increased tendency to bleed caused by a significantly reduced number of platelets 2. Recurrent bacterial, viral and fungal infections 3. Eczema of the skin In addition, long term observations of patients with WAS have revealed an increased incidence of malignancies, including lymphoma and leukemia, and an increased incidence of a variety of autoimmune diseases in many patients. The WAS is caused by mutations (or mistakes) in the gene which produce a protein named in honor of the disorder, the Wiskott-Aldrich Syndrome Protein (WASP). The WASP gene is located on the short arm of the X chromosome. The majority of these mutations are “unique.” This means that almost every family has its own characteristic mutation of the WASP gene. If the mutation is severe and interferes almost completely with the gene’s ability to produce the WAS protein, the patient has the classic, more severe form of WAS. In contrast, if there is some production of mutated WAS protein, a milder form of the disorder may result. Clinical Presentation of Wiskott-Aldrich Syndrome The clinical presentation of Wiskott-Aldrich syndrome (WAS) varies from patient to patient. Some patients present with all three classic manifestations, including low platelets and bleeding, immunodeficiency and infection, and eczema. Other patients present with low platelet counts and bleeding. In past years, the patients who presented with just low platelet counts were felt to have a different disease called X-linked thrombocytopenia (XLT). After the identification of the WAS gene, it was realized that both the WAS and X-linked thrombocytopenia are due to mutations of the same gene, and thus are different clinical forms of the same disorder. The initial clinical manifestations of WAS may be present soon after birth or develop in the first year of life. These early clinical signs are directly related to any or all of the classic clinical triad including bleeding because of the low platelet count, itchy and scaly skin rashes and eczema and/or infections because of the underlying immunodeficiency. Bleeding Tendency with Wiskott-Aldrich Syndrome A reduced number of platelets of small size is a characteristic hallmark of all patients with WAS. Since WAS is the only disorder where small platelets are found, their presence is a useful diagnostic test for the disease. Bleeding into the skin caused by the thrombocytopenia may cause pinhead sized bluish-red spots, called petechiae, or they may be larger and resemble bruises. Affected boys may also have bloody bowel movements (especially during infancy), bleeding gums, and prolonged nose bleeds. Hemorrhage into the brain is a dangerous complication and some physicians recommend that toddlers with very low platelet counts (
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 39 and 40: Chronic Granulomatous Disease 31 De
Page 41 and 42: Chronic Granulomatous Disease 33 Di
Page 43: Chronic Granulomatous Disease 35 Tr
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
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
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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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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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