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

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chapter 14 Other Important Primary Immunodeficiency Diseases In addition to the major primary immunodeficiencies described in other chapters, there are other less common, but well-described, immunodeficiencies. These less common disorders can be classified into four categories: Less common antibody deficiencies Less common cellular deficiencies Less common phagocytic cell deficiencies Less common innate immune defects
Other Important Primary Immunodeficiency Diseases 67 Less Common Antibody Deficiencies Similar to the patients described in the chapters on X-linked Agammaglobulinemia (XLA), Hyper IgM Syndrome, Selective IgA Deficiency, Common Variable Immunodeficiency, IgG Subclass Deficiency and Specific Antibody Deficiency, individuals with less common antibody deficiencies usually present with upper respiratory infections or infections of the sinuses or lungs. Laboratory studies show low immunoglobulins and/or deficient antibody function. The patients often improve with antibiotics but get sick again when these are discontinued. These illnesses include the following disorders: Autosomal Recessive Agammaglobulinemia These patients resemble patients with XLA including a profound deficiency of immune globulins, antibodies and B-cells, but their BTK gene, the gene defective in XLA, is normal. Several different genetic abnormalities have been described. Each of these abnormalities is inherited as an autosomal recessive trait (see chapter titled Inheritance). Therefore, both males and females can be affected with these deficiencies. These patients should be treated with immunoglobulin replacement therapy. Antibody Deficiency with Normal or Elevated Immunoglobulins These patients have severe infections similar to patients with Common Variable Immunodeficiency, but their immunoglobulin levels are normal or elevated. They have decreased antibody levels to most vaccine antigens, both protein and polysaccharide, which differentiate them from selective antibody deficiency patients. Selective IgM Deficiency These patients have low IgM (less than 30 mg/dl in adults, less than 20 mg/dl in children) with recurrent infections that are often severe. There are variable antibody responses. Some patients are asymptomatic. This disease may fit into the group of disorders called Common Variable Immunodeficiencies. Selective IgE Deficiency IgE is the allergy antibody. It is typically very low (< 5 IU/ml) in up to 10 percent of the patients attending an allergy clinic. Most of the patients are not ill, but recurrent respiratory infections have been described in some patients. Immunodeficiency with Thymoma (Good’s Syndrome) This primary immunodeficiency is associated with a benign thymic tumor. Good’s Syndrome is usually first suspected when a thymic tumor is seen on a chest X-ray. Most patients are adults. Removal of the thymic tumor does not cure the immunodeficiency although it may help other symptoms. Antibody Deficiency with Transcobalamin II Deficiency Transcobalamin 2 is a protein that transports vitamin B12 to the tissues from the gastrointestinal tract. A hereditary deficiency is associated with anemia, failure to thrive, low white cell counts and hypogammaglobulinemia. It can be treated with B12 injections. Warts, Hypogammaglobulinemia, Infection, Myelokathexis (WHIM) Syndrome WHIM is an autosomal recessive disorder (see chapter titled Inheritance) with severe warts, recurrent bacterial and viral infections and low, but not absent, immunoglobulins and neutropenia (low granulocytes). The latter is due to failure of the bone marrow to release granulocytes into the blood stream (myelokathexis). WHIM is caused by a defective gene for CXCR4, a chemokine protein that regulates leukocyte movement. Treatment includes immunoglobulin replacement therapy and G-CSF (see chapter titled Specific Medical Therapy).
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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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Page 45 and 46: Wiskott-Aldrich Syndrome 37 Definit
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Page 55 and 56: DiGeorge Syndrome 47 Definition of
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Page 79 and 80: Inheritance chapter 15 Many disease
Page 81 and 82: Inheritance 73 Types of Inheritance
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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
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Page 101 and 102: Specific Medical Therapy 93 Introdu
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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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