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Primary Immunodeficiency
eTextbook

Primary Immunodeficiency Diseases

These links provide a list of web sites about immune diseases that may be of interest to healthcare professionals. Baxter Healthcare Corporation does not possess editorial control over the content or the information on those other sites. As such, Baxter Healthcare Corporation and the compiler of the list make no representation as to the accuracy, completeness and any other aspect of the information contained in those sites.

Table of Contents

1. B-Cell/Antibody Deficiencies (Humoral Deficiency)
2. Combined Deficiencies (Cellular Deficiency)
3. Other Well-Defined Deficiencies
4. Phagocytic Deficiencies
5. Complement Deficiencies
6. Other Hereditary Immunodeficiency Diseases

1. B-Cell/Antibody Deficiencies (Humoral Deficiency)

X-Linked Agammaglobulinemia (XLA)

• Conley ME. Clinical Findings Leading to the Diagnosis of X-linked Agammaglobulinemia.
  J Pediatr. 2002 Oct;141(4):566-71. (View Abstract)
• European Society for Immunodeficiencies
• Immune Deficiency Foundation Handbook

Common Variable Immunodeficiency

• Cunningham-Rundles C. Clinical and Immunologic Studies of Common Variable Immunodeficiency. Curr Opin Pediatr. 1994 Dec;6(6):676-81 (View Abstract)
• Cunningham-Rundles C., Bodian C. Common variable immunodeficiency: clinical and immunological features of 248 patients. Clin Immunol. 1999 Jul;92(1):34-48 (View Abstract)
• European Society for Immunodeficiencies
• Immune Deficiency Foundation Handbook
• National Organization for Rare Disorders

Selective IgA Deficiency

• Cunningham-Rundles C. Physiology of IgA and IgA Deficiency. J Clin Immunol. 2001 Sep;21(5):303-9 (View Abstract)
• European Society for Immunodeficiencies
• Immune Deficiency Foundation Handbook

IgG Subclass Deficiency

• Immune Deficiency Foundation Handbook
• Morell A. Clinical Relevance of IgG Subclass Deficiencies. Ann Biol Clin (Paris). 1994;52(1):49-52 (View Abstract)

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2. Combined Deficiencies (Cellular Deficiency)

Severe Combined Immunodeficiencies (SCID)

• Buckley RH, et al. Human severe combined immunodeficiency: genetic, phenotypic, and functional diversity in one hundred eight infants. J Pediatr. 1997 Mar;130(3):378-87 (View Abstract)
• European Society for Immunodeficiencies
• Gennery AR. Diagnosis of Severe Combined Immunodeficiency.J Clin Pathol. 2001 Mar;54(3):191-5. (View Abstract)
• Immune Deficiency Foundation Handbook
• National Organization for Rare Disorders

Hyper IgM Syndrome

• Immune Deficiency Foundation Handbook
• Levy J. Clinical Spectrum of X-linked Hyper-IgM Syndrome.J Pediatr. 1997 Jul;131(1 Pt 1):47-54 (View Abstract)

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3. Other Well-Defined Deficiencies

DiGeorge Syndrome

• European Society for Immunodeficiencies
• Immune Deficiency Foundation Handbook
• Markert ML. Complete DiGeorge Syndrome: Persistence of Profound Immunodeficiency. J Pediatr. 1998 Jan;132(1):15-21 (View Abstract)
• National Organization for Rare Disorders

Hereditary Ataxia-Telangectasia

• European Society for Immunodeficiencies
• Immune Deficiency Foundation Handbook
• Perlman S. Ataxia-Telangiectasia: Diagnosis and Treatment. Semin Pediatr Neurol. 2003 Sep;10(3):173-82 (View Abstract)

Wiskott-Aldrich Syndrome

• European Society for Immunodeficiencies
• Immune Deficiency Foundation Handbook
• National Organization for Rare Disorders
• Nonoyama S. Wiskott-Aldrich Syndrome. Curr Allergy Asthma Rep. 2001 Sep;1(5):430-7 (View Abstract)

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4. Phagocytic Deficiencies

Chronic Granulomatous Disease (CGD)

• European Society for Immunodeficiencies
• Goldblatt D. Current Treatment Options for Chronic Granulomatous Disease. Expert Opin Pharmacother. 2002 Jul;3(7):857-63 (View Abstract)
• Immune Deficiency Foundation Handbook
• National Organization for Rare Disorders

Chediak-Higashi Syndrome

• National Organization for Rare Disorders
• Ward DM. Chediak-Higashi Syndrome: a Clinical and Molecular View of a Rare Lysosomal Storage Disorder. Curr Mol Med. 2002 Aug;2(5):469-77 (View Abstract)

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5. Complement Deficiencies

• Wen L. Clinical and Laboratory Evaluation of Complement Deficiency. J Allergy Clin Immunol. 2004 Apr;113(4):585-93 (View Abstract)

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6. Other Hereditary Immunodeficiency Diseases

Hyper IgE Syndrome (Job Syndrome)

• Garraud O. Regulation of immunoglobulin Production in Hyper-IgE (Job's) Syndrome. J All Clin Immunol 1999; 103:333-40 (View Abstract)
• Grimbacher. Hyper-IgE Syndrome with Recurrent Infections - An Autosomal Dominant Multisystem Disorder. NEJM. 1999; 340: 692-702 (View Abstract)
• National Organization for Rare Disorders

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