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Diagnosis of Primary Immune Deficiency

Diagnostic Test list for Primary Immune Deficiency:

The list of medical tests mentioned in various sources as used in the diagnosis of Primary Immune Deficiency includes:

Primary Immune Deficiency Diagnosis: Book Excerpts

Tests and diagnosis discussion for Primary Immune Deficiency:

Primary care physicians who suspect a patient has a problem with their immune system will run screening tests. If those tests indicate the person has an abnormally-functioning immune system, the physician will consult with a clinical immunologist who can run specialized blood tests to determine the exact type of PI disease and how best to treat it. Other experts who may need to be consulted include pulmonologists, rheumatologists, gastroenterologists, and hematologists. (Source: excerpt from Primary Immune Deficiency, NIAID Fact Sheet: NIAID)

Diagnostic Tests for Primary Immune Deficiency: Online Medical Books

16 MEDICAL BOOKS ONLINE! Review excerpts from medical books online, free, without registration, for more information about diagnostis of Primary Immune Deficiency.


Common variable immunodeficiency: Diagnosis
(Professional Guide to Diseases (Eighth Edition))

Characteristic diagnostic markers in this disorder are decreased serum IgM, IgA, and IgG levels detected by immunoelectrophoresis, along with a normal circulating B-cell count. Antigenic stimulation confirms an inability to produce specific antibodies; cell-mediated immunity may be intact or delayed. X-rays usually show signs of chronic lung disease or sinusitis.

» READ BOOK EXCERPT ONLINE »

Source: Professional Guide to Diseases (Eighth Edition), 2005

Severe combined immunodeficiency disease: Diagnosis
(Professional Guide to Diseases (Eighth Edition))

Diagnosis is generally made clinically because most SCID infants suffer recurrent overwhelming infections within 1 year of birth. Some infants are diagnosed after a severe reaction to vaccination.

Defective humoral immunity is difficult to detect before age 5 months. Before then, even normal infants have very small amounts of serum immunoglobulin (Ig) M and IgA. Normal IgG levels merely reflect maternal IgG.

Confirming diagnosis  Severely diminished or absent T-cell number and function, as well as lymph node biopsy showing absence of lymphocytes, can confirm diagnosis of SCID.

» READ BOOK EXCERPT ONLINE »

Source: Professional Guide to Diseases (Eighth Edition), 2005

Common variable immunodeficiency: Diagnosis
(Handbook of Diseases)

Characteristic diagnostic markers in this disorder include decreased serum immunoglobulin (Ig) M, IgA, and IgG detected by immunoelectrophoresis, along with a normal circulating B-cell count. Antigenic stimulation confirms an inability to produce specific antibodies; cell-mediated immunity may be intact or delayed. X-rays usually show signs of chronic lung disease or sinusitis.

» READ BOOK EXCERPT ONLINE »

Source: Handbook of Diseases, 2003

Severe combined immunodeficiency disease: Diagnosis
(Handbook of Diseases)

Clinical indications point to the diagnosis. Most infants with SCID suffer recurrent overwhelming infections within 1 year of birth. Some are diagnosed after a severe reaction to vaccination.

Defective humoral immunity is difficult to detect before an infant is 5 months old. Before age 5 months, even normal infants have very small amounts of the serum immunoglobulins (Ig) IgM and IgA, and normal IgG levels merely reflect maternal IgG. However, severely diminished or absent T-cell number and function and lymph node biopsy showing absence of lymphocytes can confirm the diagnosis of SCID.

» READ BOOK EXCERPT ONLINE »

Source: Handbook of Diseases, 2003

Chronic fatigue and immune dysfunction syndrome: Diagnosis
(Handbook of Diseases)

The cause and nature of CFIDS are still unknown, and no single test unequivocally confirms its presence. Therefore, the diagnosis is based on the patient’s history and the CDC criteria. Because the CDC criteria are admittedly a working concept that may not include all forms of this disease and are based on symptoms that can result from other diseases, diagnosis is difficult and uncertain. Considerable overlap exists between CFIDS and fibromyalgia syndrome, with many patients having features of both.

» READ BOOK EXCERPT ONLINE »

Source: Handbook of Diseases, 2003

Congenital Immunodeficiencies: Diagnosis
(Pediatric Infectious Disease)

Once a decision to screen for primary immunodeficiency is made, the following can be helpful laboratory screen:

• Measurement of serum immunoglobulin levels, including immunoglobulin E (IgE)

• Quantification of specific antibody responses to vaccination

• Absolute lymphocyte count

• T-cell numbers: (CD3, CD4, CD8) and B-cell numbers (CD19, CD20)

In vitro lymphocyte proliferation tests (T cell function)

• Total complement levels (CH50)

• Nitroblue tetrazolium test (NBT)

Screening labs which come back abnormal, particularly in the correct clinical context, warrant referral to a pediatric immunologist or infectious disease specialist.

» READ BOOK EXCERPT ONLINE »

Source: Pediatric Infectious Disease, 2004


 » Next page: Signs of Primary Immune Deficiency

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