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

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70 Other Important Primary Immunodeficiency Diseases Less Common Phagocytic Cell Deficiencies continued Several primary immunodeficiencies have an associated neutropenia. These immunodeficiecies include X-linked hyper-IgM syndrome, X-linked agammaglobulinemia, and WHIM syndrome. Some of these patients acquire an autoimmune antibody to their own neutrophils. This antibody causes neutropenia due to accelerated destruction of the neutrophils. Phagocyte Killing Defects Several rare phagocyte defects have an inability to kill organisms similar to patients with chronic granulomatous disease (CGD) (see chapter titled Chronic Granulomatous Disease). They should be suspected in patients who seem to have CGD but tests for that disorder are normal. These include enzyme defects or deficiencies of glucose-6-phosphate dehydrogenase, myeloperoxidase, glutathione reductase and glutathione synthetase. Specific Granule Deficiency Specific granule deficiency is associated with killing defects and decreased granules within their neutrophils. Glycogen Storage Disease Type Ib Glycogen storage disease type Ib is a disorder with neutropenia, poor granulocyte killing, a large liver and low blood sugar. It is due to a defect of the enzyme glucose-6 phosphate transporter 1 with accumulation of glycogen in the liver. b-actin Deficiency b-actin Deficiency is associated with poor granulocyte movement (chemotaxis) and recurrent infection. b-actin is a structural protein that allows cell movement. Some patients with chemotactic disorders have severe periodontitis and early tooth loss. Three of these syndromes are termed Papillon-Lefebre syndrome, prepubertail periodontitis, and juvenile periodontitis. Less Common Innate Immune Defects Innate immunity includes those body defenses that are present at birth and do not increase following microbial exposure or immunization. Toll-like Receptor (TLRs) Defects Toll-like receptors are proteins present on the surface of many leukocytes that react with proteins present on many microbes. Upon contact with an organism these TLRs send internal messages to the nucleus of the cell to secrete cytokines, which stimulate the immune system, and kill invading microorganisms. Several immunodeficiencies have been recently described in which cellular proteins that should transmit the message from the TLRs to the nucleus are abnormal, resulting in failure of cytokines to be produced in response to bacterial infection. One of these is a disorder termed IRAK-4 deficiency. Another is ectodermal dysplasia with immunodeficiency (EDA-ID), an X-linked disorder associated with a defect of a gene termed NEMO which encodes an enzyme (IKK-g) necessary for nuclear signaling (see chapter titled Hyper IgM Syndrome). Many of these latter patients have defects of sweating, sparse hair, abnormal dentition, and an antibody deficiency. Mannose-binding Lectin (MBL) Deficiency MLB is a deficiency of a circulating protein that allows microbes to activate the complement system. A hereditary deficiency of MBL is associated with recurrent severe infections. A partial deficiency may aggravate other problems such as cystic fibrosis, HIV or lupus erythematosus.
Inheritance chapter 15 Many diseases are genetic in origin and consequently, are passed on in families. Most of the immunodeficiency diseases are inherited in one of two different modes of inheritance: X-linked recessive or autosomal recessive. Laboratory studies and family history can be helpful in establishing the possible role of genes or chromosomes in a particular primary immunodeficiency disease and may help to identify a particular pattern of inheritance.
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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
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The Immune System and Primary Immun
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The Immune System And Primary Immun
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Common Variable Immune Deficiency c
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Common Variable Immune Deficiency 1
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X-Linked Agammaglobulinemia chapter
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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
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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: Other Important Primary Immunodefic
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
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Page 113 and 114: Infants and Children with Primary I
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Adults with Primary Immunodeficienc
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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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