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

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74 Inheritance Types of Inheritance continued The X chromosome is diagrammed as an “X.” An X chromosome that carries the gene for agammaglobulinemia is represented by an “AX.” A normal X chromosome is represented by an “XN.” A “Y” represents a Y chromosome. The mother, who is a carrier, can produce two kinds of eggs—one containing an X chromosome carrying the agammaglobulinemia gene (AX), and one containing an X chromosome with a normal gene (XN). The father, who is unaffected, can produce two kinds of sperm—one containing a normal X chromosome (XN), and one containing a Y chromosome. If the egg containing the agammaglobulinemia X chromosome (AX) combines with (or is fertilized by) the sperm containing the normal X chromosome, then a daughter who is a carrier (AX/XN) is produced. The gene for agammaglobulinemia is balanced out by the normal gene on the other X chromosome. If the egg containing the agammaglobulinemia X chromosome (AX) combines with the sperm containing the Y chromosome (Y), then a male who is affected with agammaglobulinemia (AX/ Y) is produced. In this case, there is no gene Examples of Primary Immunodeficiency Diseases with X-linked Recessive Inheritance: X-Linked Agammaglobulinemia Wiskott-Aldrich Syndrome Severe Combined Immunodeficiency (one form) Hyper IgM syndrome (two forms) X-Linked Lymphoproliferative Disease Chronic Granulomatous Disease (one form) on the Y chromosome that corresponds to the agammaglobulinemia gene, and only the agammaglobulinemia gene is active in the child. If the egg containing the normal X chromosome (XN) combines with the sperm containing the normal X chromosome (XN) then a normal female (XN/XN) is produced. In this case the child does not carry the agammaglobulinemia gene. Finally if the egg containing the normal X chromosome (XN) combines with the sperm containing the Y chromosome (Y), then a normal male (XN/Y) results. CHAPTER 15; FIGURE 3 X-linked Recessive Inheritance—Affected Father
Inheritance 75 Types of Inheritance continued The chances for a given egg combining with a given sperm are completely random. According to the laws of probability, the chance for any given pregnancy of a carrier female to result in each of these outcomes is as follows: Carrier female—1 in 4 chance or 25% Agammaglobulinemia male—1 in 4 chance or 25% Normal female—1 in 4 chance or 25% Normal male—1 in 4 chance or 25% It should be noted that the outcome of one pregnancy is not influenced by the outcome of a previous pregnancy. Just as in coin flipping, the fact that you get a “heads” on your first toss doesn’t mean you will get a “tails” on the next. Similarly, if you have a son with agammaglobulinemia with your first pregnancy you are not guaranteed to have an unaffected child with your second pregnancy; your chances of having a son with agammaglobulinemia are still 1 in 4 (25%) with each pregnancy. In most of the X-linked primary immunodeficiency diseases, carrier females can be identified by laboratory tests if the mutation in a given family has been determined. Consult with your physician or genetic counselor to learn if carrier detection is available in your specific situation. With earlier diagnosis and improved therapy, many young men with X-linked disorders, such as agammaglobulinemia, are reaching adult life and having children of their own. Figure 3 illustrates the kind of children that a man with X-linked agammaglobulinemia would have if he married a woman who did not carry the gene for agammaglobulinemia. As can be seen in Figure 3, all of the daughters of an affected male would be carrier females and none of the sons would be affected. Autosomal Recessive Inheritance If a primary immunodeficiency disease can only occur if two abnormal genes (one from each parent) are present in the patient, then the disorder is inherited as an autosomal recessive disorder. If an individual inherits only one gene for the disorder; then he or she carries the gene for the disorder but does not have the disorder itself. CHAPTER 15; FIGURE 4 Autosomal Recessive Inheritance—SCID Example
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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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Selective IgA Deficiency 21 Clinica
Page 31 and 32: Severe Combined Immunodeficiency ch
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Page 39 and 40: Chronic Granulomatous Disease 31 De
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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 and 80: Inheritance chapter 15 Many disease
Page 81: Inheritance 73 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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Page 103 and 104: Specific Medical Therapy 95 General
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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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