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

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chapter 12 Hyper IgE Syndrome Hyper-IgE syndrome (HIES) is a complex primary immunodeficiency disorder characterized by a spectrum of abnormalities related to the immune system, bones, connective tissue and teeth.
Hyper IgE Syndrome 59 Definition of Hyper IgE Syndrome Hyper-IgE syndrome (HIES) is a complex primary immunodeficiency disorder characterized by a spectrum of abnormalities related to the immune system, bones, connective tissue and teeth. The cause of HIES is not known. The disease is also known as Job Syndrome because skin boils, a hallmark of the syndrome, are reminiscent of the biblical character Job, who was smitten by Satan “with sore boils from the sole of his foot unto his crown.” HIES was initially defined as a triad of clinical problems involving skin boils, severe episodes of pneumonia and very high serum IgE levels. History of Hyper IgE Syndrome Davis, Schaller and Wedgewood (1966) first reported two red-haired, fair-skinned girls with many episodes of pneumonia, eczema-like rashes and recurrent skin boils remarkable for their lack of surrounding warmth, redness, or tenderness. The syndrome was further defined and clarified by Buckley et al. (1972), who noted similar infectious problems in two boys who also had distinctive facial appearances and extremely elevated IgE levels. Following this report, elevated IgE was found in the two girls from the initial report, showing that Job syndrome and Buckley syndrome represented the same condition. Clinical Presentation of Hyper IgE Syndrome Within the past decade, a large and comprehensive study of the clinical features of HIES revealed a more complete clinical picture of HIES involving the immune system, the skeleton and dentition (teeth). This study also showed that the severity of the different clinical findings varied with age and from individual to individual, even within the same family. Immune System There are a number of clinical features of HIES that relate to underlying abnormalities in the immune system. These include eczema, abscesses, pneumonia, infections with a fungus called candida, IgE values in the blood serum that are extremely high and high numbers of a type of white blood cell known as eosinophils. In the first month of life, rashes are described in three quarters of HIES cases. Most often, the rashes occur in the creases behind the ears, the back, buttocks and scalp. Staphylococcus aureus is the most common cause of the abscesses or boils. Unlike boils in people with normal immunity, those in HIES patients are often not “hot”, red, or painful. Consequently, they may not be recognized and treated promptly. Upper respiratory infections—sinusitis, otitis media, otitis externa and mastoiditis—are also frequent. Fortunately, following institution of prophylactic anti-staphylococcal antibiotics, abscesses, or boils, occur less commonly and respiratory infections decrease. A clinical hallmark of HIES is recurrent pneumonia. By early adulthood, more than 50% of patients have had three or more X-ray proven pneumonias. For reasons that are not understood, pneumonias in HIES cause destruction of lung tissue, resulting in cavities in the lung (pneumatoceles) or scarring and thickening of the lower air passages (bronchiectasis). Another chronic infectious problem in HIES are chronic and recurrent candida fungal infections of mucus membranes (such as the mouth and throat) and the nail beds. Skeleton and Connective Tissue Skeletal abnormalities and a characteristic facial appearance in HIES were recognized in the original reports, but the fair skin and red hair in the original cases turned out to be just a coincidence. Patients often resemble each other, having a prominent forehead and chin, broad nose and thickened facial skin; these features evolve during adolescence. Lax joints are also typical.
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Patient & Family Handbook For Prima
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Patient & Family Handbook For Prima
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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
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The Immune System And Primary Immun
Page 15 and 16: The Immune System And Primary Immun
Page 17 and 18: 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 and 62: IgG Subclass Deficiency and Specifi
Page 63 and 64: Ataxia Telangiectasia 55 Definition
Page 65: Ataxia Telangiectasia 57 General Tr
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
Page 113 and 114: Infants and Children with Primary I
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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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