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

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72 Inheritance Inheritance of Primary Immunodeficiency Diseases Most of our physical and chemical characteristics are passed along from parents to children. Examples of these include the color of our eyes, our hair color, and the chemicals that determine our blood type. In the same manner, many of the primary immunodeficiency diseases are inherited, or passed on, in families. The chemical structures that are responsible for these characteristics, and the tens of thousands of other characteristics that make an individual unique are called genes. These genes are packaged on long, string-like structures called chromosomes. Every cell in the body contains all the chromosomes and consequently, all of the genes necessary for life. Each of our cells contains 23 pairs of chromosomes, hence, 23 sets of gene pairs. One of each pair of chromosomes is inherited from our mother while the other is inherited from our father. Since genes are on these chromosomes, we also inherit one gene (or message) for a certain characteristic (such as eye color) from our mother and one gene for the same characteristic from our father. During egg and sperm production, the total number of 46 parental chromosomes (23 pairs) is divided in half. One chromosome of each pair, and only one, is normally passed on in each egg or sperm. When fertilization of the egg occurs, the 23 chromosomes contained in the egg combine with the 23 chromosomes in the sperm to restore the total number to 46. In this way each parent contributes half of his/her genetic information to each offspring. All of the chromosomes except the sex chromosomes are called autosomes and are numbered from 1-22 according to size. One additional pair of chromosomes determines the sex of the individual. These are called the sex chromosomes and are of two types, X and Y chromosomes. As shown in Figure 1, females have two X chromosomes, and males have an X and a Y chromosome. As a result of having two X chromosomes, females can only produce eggs that have an X chromosome. In contrast, since men have both an X and Y chromosome, half of the sperm produced will contain an X chromosome and half will carry a Y chromosome. The sex of the baby is determined by which type of sperm fertilizes the egg. If the sperm that fertilizes (or combines with) the egg carries an X chromosome, the child that results will be a female. If the sperm carries a Y chromosome, the child that results will be a male. CHAPTER 15; FIGURE 1 The Sex Chromosomes
Inheritance 73 Types of Inheritance Many diseases are genetic in origin and are passed on in families. Most of the primary immunodeficiency diseases are inherited in one of two different modes of inheritance; X-linked recessive or autosomal recessive. Rarely, the inheritance is autosomal dominant. Laboratory studies can be helpful in establishing the possible role of genes or chromosomes in a particular primary immunodeficiency disease. In addition, family history information may help to identify a particular pattern of inheritance, as can comparisons to other families with similar problems. Consult the appropriate handbook chapter or your physician to learn whether a particular immune deficiency disease is genetic, and if so, what form of inheritance is involved. X-linked Recessive Inheritance One type of single gene disorder involves those genes located on the X chromosome. Since women have two X chromosomes, they usually do not have problems when a gene on one X chromosome does not work properly. This is because they have a second X chromosome that usually carries a normal gene and compensates for the abnormal gene on the affected X chromosome. Men have only one X chromosome, which is paired with their male-determining Y chromosome. The Y chromosome does not carry much active genetic information. Therefore, if there is an abnormal gene on the X chromosome, the paired Y chromosome has no normal gene to compensate for the abnormal gene on the affected X chromosome, and the boy (man) has the disorder. This special type of inheritance is called X-linked recessive. In this form of inheritance, a family history of several affected males may be found. The disease is passed on from females (mothers) to males (sons). While the males are affected with the disease, the carrier females are generally asymptomatic and healthy even though they carry the gene for the disease because they carry a normal gene on the other X chromosome. The diagram in Figure 2 illustrates how this kind of inheritance operates in the usual situation. X-linked agammaglobulinemia is used as the specific example. Parents in the situation shown in Figure 2 can have 4 different types of children with respect to X-linked agammaglobulinemia. CHAPTER 15; FIGURE 2 X-linked Recessive Inheritance—Carrier Mother
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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
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Selective IgA Deficiency chapter 4
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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 and 78: Other Important Primary Immunodefic
Page 79: Inheritance chapter 15 Many disease
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
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Page 91 and 92: Laboratory Tests 83 Summary Laborat
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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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