PEDIATRIC TIP The clinical course varies slightly in children, who have a shorter incubation time (mean, 17 months.) Signs and symptoms resemble those in adults, except for findings related to sexually transmitted disease (STD). Children show virtually all of the opportunistic infections observed in adults, with a higher incidence of bacterial infections: otitis media, pneumonias other than that caused by Pneumocystis carinii, sepsis, chronic salivary gland enlargement, and lymphoid interstitial pneumonia.
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Source: Professional Guide to Diseases (Eighth Edition), 2005
Common variable immunodeficiency:
Signs and symptoms
(Professional Guide to Diseases (Eighth Edition))
In common variable immunodeficiency, pyogenic bacterial infections are characteristic but tend to be chronic rather than acute (as in X-linked hypogammaglobulinemia). Recurrent sinopulmonary infections, chronic bacterial conjunctivitis, and malabsorption (commonly associated with infestation by Giardia lamblia) are usually the first clues to immunodeficiency.
Common variable immunodeficiency may be associated with autoimmune diseases, such as systemic lupus erythematosus, rheumatoid arthritis, hemolytic anemia, and pernicious anemia, and with cancers, such as leukemia and lymphoma.
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Source: Professional Guide to Diseases (Eighth Edition), 2005
Severe combined immunodeficiency disease:
Signs and symptoms
(Professional Guide to Diseases (Eighth Edition))
An extreme susceptibility to infection becomes obvious in the infant with SCID in the first months of life. The infant fails to thrive and develops chronic otitis; sepsis; watery diarrhea (associated with Salmonella or Escherichia coli); recurrent pulmonary infections (usually caused by Pseudomonas, cytomegalovirus, or Pneumocystis carinii); persistent oral candidiasis, sometimes with esophageal erosions; and possibly fatal viral infections such as chickenpox.
P. carinii pneumonia usually strikes a severely immunodeficient infant in the first 3 to 5 weeks of life. Onset is typically insidious, with gradually worsening cough, low-grade fever, tachypnea, and respiratory distress. Chest X-ray characteristically shows bilateral pulmonary infiltrates.
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Source: Professional Guide to Diseases (Eighth Edition), 2005
Common variable immunodeficiency:
Signs and symptoms
(Handbook of Diseases)
With common variable immunodeficiency, pyogenic bacterial infections are characteristic but tend to be chronic rather than acute (as in X-linked hypogammaglobulinemia). Recurrent sinopulmonary infections, chronic bacterial conjunctivitis, and malabsorption (commonly associated with infestation by Giardia lamblia) are usually the first clues to immunodeficiency.
Common variable immunodeficiency may be associated with autoimmune diseases (such as systemic lupus erythematosus, rheumatoid arthritis, hemolytic anemia, and pernicious anemia) as well as with cancers (such as leukemia and lymphoma).
Clinical tip Patients with common variable immunodeficiency can develop a nonseptic inflammatory arthritis similar to rheumatoid arthritis. However, because septic arthritis has also been reported, a search for an infecting organism should be undertaken in patients with new joint pain and inflammation, particularly if only one or two joints are affected.
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Source: Handbook of Diseases, 2003
Human immunodeficiency virus infection:
Signs and symptoms
(Handbook of Diseases)
HIV infection manifests itself in many ways.
Clinical tip After a high-risk exposure and inoculation, the infected person usually experiences a mononucleosis-like syndrome, which may be attributed to the flu or another virus, and then may remain asymptomatic for years. In this latent stage, the only sign of HIV infection is laboratory evidence of seroconversion.
When symptoms appear, they may take many forms:
❑ persistent generalized adenopathy
❑ nonspecific symptoms (weight loss, fatigue, night sweats, fevers)
❑ neurologic symptoms resulting from HIV encephalopathy
❑ opportunistic infection or cancer.
The clinical course varies slightly in children with AIDS. Apparently, their incubation time is shorter, with a mean of 17 months. Signs and symptoms resemble those in adults, except for findings related to STDs. Children show virtually all of the opportunistic infections observed in adults, with a higher incidence of bacterial infections, such as otitis media, sepsis, chronic salivary gland enlargement, Mycobacterium avium complex function, and pneumonias, including Pneumocystis carinii and lymphoid interstitial pneumonias.
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Source: Handbook of Diseases, 2003
Severe combined immunodeficiency disease:
Signs and symptoms
(Handbook of Diseases)
An extreme susceptibility to infection becomes obvious in the infant with SCID in the first months of life. The infant fails to thrive and develops chronic otitis, sepsis, watery diarrhea (associated with Salmonella or Escherichia coli), recurrent pulmonary infections (usually caused by Pseudomonas, cytomegalo-virus, or Pneumocystis carinii), persistent oral candidiasis (sometimes with esophageal erosions), and possibly fatal viral infections (such as chickenpox).
P. carinii pneumonia usually strikes a severely immunodeficient infant in the first 3 to 5 weeks of life. Onset is typically insidious, with gradually worsening cough, low-grade fever, tachypnea, and respiratory distress. A chest X-ray characteristically shows bilateral pulmonary infiltrates.
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Source: Handbook of Diseases, 2003
Hyper-aldosteronism:
Signs and symptoms
(Handbook of Diseases)
Most clinical effects of hyperaldosteronism result from hypokalemia, which increases neuromuscular irritability and produces muscle weakness, fatigue, headaches, paresthesia, and intermittent, flaccid paralysis.
Hypokalemia interferes with normal insulin secretion and can worsen glucose control in diabetic patients with hyperaldosteronism. Hypertension and its accompanying complications are also common. Another characteristic finding is loss of renal concentrating ability, resulting in polyuria and polydipsia. Azotemia indicates chronic potassium depletion nephropathy.
Clinical tip Consider primary hyperaldosteronism in those hypertensive patients with spontaneous hypokalemia or significant hypokalemia on modest diuretic dosing.
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Source: Handbook of Diseases, 2003
Hyper-parathyroidism:
Signs and symptoms
(Handbook of Diseases)
The clinical effects of primary hyperparathyroidism result from hypercalcemia and are typically present in several body systems.
❑ Renal: nephrocalcinosis due to elevated levels of calcium and, possibly, recurring nephrolithiasis, which may lead to renal insufficiency; renal manifestations, including polyuria, are the most common effects of hyperparathyroidism
❑ Skeletal and articular: chronic lower back pain and easy fracturing due to bone degeneration; bone tenderness; chondrocalcinosis; osteopenia and osteoporosis, especially on the vertebrae; erosions of the juxta-articular surface; subchondral fractures; traumatic synovitis; and pseudogout
❑ GI: pancreatitis, causing constant, severe epigastric pain that radiates to the back; peptic ulcers, causing abdominal pain, anorexia, nausea, and vomiting
❑ Neuromuscular: muscle weakness and atrophy, particularly in the legs
❑ Central nervous system: psychomotor and personality disturbances, depression, overt psychosis, stupor and, possibly, coma
❑ Other: skin necrosis, cataracts, calcium microthrombi to lungs and pancreas, polyuria, anemia, and subcutaneous calcification.
Similarly, in secondary hyperparathyroidism, decreased serum calcium levels may produce the same features of calcium imbalance with skeletal deformities of the long bones (rickets, for example) as well as symptoms of the underlying disease.
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Source: Handbook of Diseases, 2003
Hyper-lipoproteinemia:
Signs and symptoms
(Handbook of Diseases)
Clinical features of hyperlipoproteinemia vary according to the type of disorder:
❑ Type I: recurrent attacks of severe abdominal pain similar to pancreatitis, usually preceded by fat intake; abdominal spasm, rigidity, or rebound tenderness; hepatosplenomegaly with liver or spleen tenderness; papular or eruptive xanthomas (pinkish yellow cutaneous deposits of fat) over pressure points and extensor surfaces; lipemia retinalis (reddish white retinal vessels); malaise; anorexia; and fever
❑ Type II: tendinous xanthomas (firm masses) on the Achilles tendons and tendons of the hands and feet, tuberous xanthomas, xanthelasma, juvenile corneal arcus (opaque ring surrounding the corneal periphery), accelerated atherosclerosis and premature coronary artery disease (CAD), and recurrent polyarthritis and tenosynovitis
❑ Type III: peripheral vascular disease manifested by claudication or tuberoeruptive xanthomas (soft, inflamed, pedunculated lesions) over the elbows and knees; palmar xanthomas on the hands, particularly fingertips; premature atherosclerosis
❑ Type IV: predisposition to atherosclerosis and early CAD, exacerbated by excessive calorie intake, obesity, diabetes, and hypertension
❑ Type V: abdominal pain (most common), pancreatitis, peripheral neuropathy, eruptive xanthomas on extensor surfaces of the arms and legs, lipemia retinalis, and hepatosplenomegaly.
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Source: Handbook of Diseases, 2003
Article Excerpts About Symptoms of Hyper-IgM Syndrome:
Genes and Disease by the National Center for Biotechnology (Excerpt)
Individuals with HIM are susceptible to recurrent bacterial infections and are at an increased risk of autoimmune disorders and cancer at an early age.
(Source: Genes and Disease by the National Center for Biotechnology)
Primary Immune Deficiency, NIAID Fact Sheet: NIAID (Excerpt)
Infants usually develop recurring
upper and lower respiratory infections within the first year of
life. Other signs of the disease include enlarged tonsils, liver,
and spleen, chronic diarrhea, and an increased risk of unusual or
“opportunistic” infections and non-Hodgkins lymphoma.
(Source: excerpt from Primary Immune Deficiency, NIAID Fact Sheet: NIAID)
Medical articles and books on symptoms:
These general reference articles may be of interest
in relation to medical signs and symptoms of disease in general:
Full list of premium articles on symptoms and diagnosis
About signs and symptoms of Hyper-IgM Syndrome:
The symptom information on this page
attempts to provide a list of some possible signs and symptoms of Hyper-IgM Syndrome.
This signs and symptoms information for Hyper-IgM Syndrome has been gathered from various sources,
may not be fully accurate,
and may not be the full list of Hyper-IgM Syndrome signs or Hyper-IgM Syndrome symptoms.
Furthermore, signs and symptoms of Hyper-IgM Syndrome may vary on an individual basis for each patient.
Only your doctor can provide adequate diagnosis of any signs or symptoms and whether they
are indeed Hyper-IgM Syndrome symptoms.
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