Types of Primary
Immunodeficiency
These links provide a list of websites about primary immunodeficiency 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
- B-Cell/Antibody Deficiencies (Humoral Deficiency)
- Combined Deficiencies (Cellular Deficiency)
- Other Well-Defined Deficiencies
- Phagocytic Deficiencies
- Complement Deficiencies
- 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.
Journal of Pediatrics. 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. Current Opinion in Pediatrics.. 1994 Dec;6(6):676-81 (View Abstract)
- Cunningham-Rundles C., Bodian C. Common variable immunodeficiency: clinical and immunological features of 248 patients. Clinical Immunology. 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. Clinical Immunology. 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. Annales de Bioligie Clinique (Paris). 1994;52(1):49-52 (View Abstract)
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. Journal of Pediatrics. 1997 Mar;130(3):378-87 (View Abstract)
- European Society for Immunodeficiencies
- Gennery AR. Diagnosis of Severe Combined Immunodeficiency.Journal of Clinical Pathology. 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.Journal of Pediatrics. 1997 Jul;131(1 Pt 1):47-54 (View Abstract)
3. Other Well-Defined Deficiencies
DiGeorge Syndrome
- European Society for Immunodeficiencies
- Immune Deficiency Foundation Handbook
- Markert ML. Complete DiGeorge Syndrome: Persistence of Profound Immunodeficiency. Journal of Pediatrics. 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. Seminars in Pediatric Neurology. 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. Current Allergy and Asthma Reports. 2001 Sep;1(5):430-7 (View Abstract)
4. Phagocytic Deficiencies
Chronic Granulomatous Disease (CGD)
- European Society for Immunodeficiencies
- Goldblatt D. Current Treatment Options for Chronic Granulomatous Disease. Expert Opinion on Pharmacotherapy. 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. Current Molecular Medicine. 2002 Aug;2(5):469-77 (View Abstract)
5. Complement Deficiencies
- Wen L. Clinical and Laboratory Evaluation of Complement Deficiency. Journal of Allergy and Clinical Immunology. 2004 Apr;113(4):585-93 (View Abstract)
6. Other Hereditary Immunodeficiency Diseases
Hyper IgE Syndrome (Job Syndrome)
- Garraud O. Regulation of immunoglobulin Production in Hyper-IgE (Job's) Syndrome. Journal of Allergy and Clinical Immunology 1999; 103:333-40 (View Abstract)
- Grimbacher. Hyper-IgE Syndrome with Recurrent Infections - An Autosomal Dominant Multisystem Disorder. New England Journal of Medicine. 1999; 340: 692-702 (View Abstract)
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