Causes of Hyper-IgM Syndrome
Hyper-IgM Syndrome Causes: Book Excerpts
What causes Hyper-IgM Syndrome?
Causes: Hyper-IgM Syndrome:
Genes and Disease by the National Center for Biotechnology (Excerpt)
In a normal immune response to a new antigen, B cells first produce IgM antibody. Later, the B cells switch to produce IgG, IgA and IgE, antibodies that protect tissues and mucosal surfaces more effectively.
(Source: Genes and Disease by the National Center for Biotechnology)
Primary Immune Deficiency, NIAID Fact Sheet: NIAID (Excerpt)
A flawed gene (or genes) in T cells
is responsible for hyper IgM syndrome. The faulty T cells do not
give B cells a signal they need to switch from making IgM to IgA and
IgG. Most cases of hyper-IgM syndrome are linked to the X
chromosome. Because males do not have a second, healthy,
X-chromosome to offset the disease, boys far outnumber girls with
this disease. (Source: excerpt from Primary Immune Deficiency, NIAID Fact Sheet: NIAID)
Related information on causes of Hyper-IgM Syndrome:
As with all medical conditions,
there may be many causal factors.
Further relevant information on causes of Hyper-IgM Syndrome may be found in:
Causes of Hyper-IgM Syndrome: Online Medical Books
16 MEDICAL BOOKS ONLINE!
Review excerpts from medical books online, free, without registration,
for more information about the causes of Hyper-IgM Syndrome.
Acquired immunodeficiency syndrome:
Causes and incidence
(Professional Guide to Diseases (Eighth Edition))
AIDS results from infection with HIV, which has two forms: HIV-1 and HIV-2. Both forms of HIV have the same modes of transmission and similar opportunistic infections associated with AIDS, but studies indicate that HIV-2 develops more slowly and presents with milder symptoms than HIV-1.
Transmission occurs through contact with infected blood or body fluids and is associated with identifiable high-risk behaviors. It’s disproportionately represented in:
❑ homosexual and bisexual men
❑ persons who use illicit I.V. drugs
❑ neonates of infected females
❑ recipients of contaminated blood or blood products (incidence dramatically decreased since mid-1985)
❑ heterosexual partners of persons in the former groups.
» READ BOOK EXCERPT ONLINE »
Source: Professional Guide to Diseases (Eighth Edition), 2005
Common variable immunodeficiency:
Causes
(Professional Guide to Diseases (Eighth Edition))
The cause of common variable immunodeficiency is unknown. Most patients have a normal circulating B-cell count but defective synthesis or release of immunoglobulins. Many also exhibit progressive deterioration of T-cell (cell-mediated) immunity revealed by delayed hypersensitivity skin testing.
» READ BOOK EXCERPT ONLINE »
Source: Professional Guide to Diseases (Eighth Edition), 2005
Severe combined immunodeficiency disease:
Causes and incidence
(Professional Guide to Diseases (Eighth Edition))
SCID is usually transmitted as an autosomal recessive trait, although it may be X-linked. In most cases, the genetic defect seems associated with failure of the stem cell to differentiate into T and B lymphocytes. Many molecular defects such as mutation of the kinase ZAP-70 can cause SCID. X-linked SCID is due to a mutation of a subunit of the interleukin (IL)-2, IL-4, and IL-7 receptors. Less commonly, it results from an enzyme deficiency.
SCID affects more males than females. Its estimated incidence is 1 in every 100,000 to 500,000 births. Most untreated patients die from infection within 1 year of birth.
» READ BOOK EXCERPT ONLINE »
Source: Professional Guide to Diseases (Eighth Edition), 2005
Salivation, increased [Polysialia, ptyalism]:
Medical causes
(Professional Guide to Signs & Symptoms (Fifth Edition))
Bell’s palsy
Paralysis of the facial nerve causes an inability to control salivation or close the eye on the affected side.
Pregnancy
In the early months of pregnancy, many women experience increased salivation, nausea, and breast tenderness.
Stomatitis
Mucosal ulcers may be accompanied by moderately increased salivation, mouth pain, fever, and erythema. Spontaneous healing usually occurs in 7 to 10 days, but scarring and recurrence are possible.
Syphilis
With secondary syphilis, mucosal ulcers cause increased salivation that may persist up to a year. Related findings include fever, malaise, headache, anorexia, weight loss, nausea, vomiting, sore throat, and generalized lymphadenopathy. A bilaterally symmetrical rash appears on the arms, trunk, palms, soles, face, and scalp. Condylomata develop in the genital and perianal areas.
Tuberculosis
Certain forms of tuberculosis may produce solitary, irregularly shaped mouth or tongue ulcers, covered with exudate, that cause increased salivation. Other findings include weight loss, anorexia, fever, fatigue, malaise, dyspnea, cough, night sweats (a common sign), and hemoptysis.
Other causes
Arsenic poisoning
Common effects of arsenic poisoning are diarrhea, diffuse skin hyperpigmentation, and edema of the eyelids, face, and ankles; increased salivation occurs infrequently. The patient may also exhibit garlicky breath odor, pruritus, alopecia, irritated mucous membranes, headache, drowsiness, and confusion. He may also develop muscle aching, weakness, seizures, and paresthesia in a stocking-glove distribution pattern.
Drugs
Increased salivation may occur with iodide toxicity, but the earliest symptoms are a brassy taste and a burning sensation in the mouth and throat. Associated findings include sneezing, irritated eyelids, and (commonly) pain in the frontal sinus.
Pilocarpine and other miotics used to treat glaucoma may be absorbed systemically, increasing salivation. Cholinergics, such as bethanechol, may also cause this symptom.
Mercury poisoning
Stomatitis, characterized by increased salivation and a metallic taste, commonly occurs in those with mercury poisoning. The patient’s teeth may be loose and his gums are painful, swollen, and prone to bleeding. A blue line appears on the gingivae. The patient may also experience personality changes, memory loss, abdominal cramps, diarrhea, paresthesia, and tremors of the eyelids, lips, tongue, and fingers.
» READ BOOK EXCERPT ONLINE »
Source: Professional Guide to Signs & Symptoms (Fifth Edition), 2006
Tearing, increased [Epiphora]:
Medical causes
(Professional Guide to Signs & Symptoms (Fifth Edition))
Blepharophimosis
Increased tearing and exposure keratitis—corneal inflammation with incomplete lid closure—are common signs of this disorder. Examination also reveals ectropion; a small, expressionless face with deep-set eyes and pursed lips; and a high-arched palate.
Conjunctival foreign body or abrasion
Increased tearing may accompany localized conjunctival injection, severe eye pain, and photophobia. A foreign-body sensation may be present.
Conjunctivitis
Typically, increased tearing is accompanied by conjunctival injection and itching in this disorder. Allergic conjunctivitis also causes a stringy discharge. Bacterial conjunctivitis also causes a copious purulent discharge, burning, a foreign-body sensation and, possibly, eye pain if the cornea is involved. Associated signs of fungal conjunctivitis include lid edema, burning, and a copious thick, purulent discharge that may form sticky crusts on the lids. The patient complains of photophobia and pain if the cornea is involved. Highly contagious viral conjunctivitis also causes a foreign-body sensation, slight exudate, and lid edema.
Corneal abrasion
Marked by severe corneal pain that’s aggravated by blinking, this injury also causes increased tearing. Associated features are a foreign-body sensation, blurred vision, conjunctival injection, and photophobia, which makes opening the lids difficult.
Corneal foreign body
When a foreign body lodges in the cornea, the patient experiences increased tearing, blurred vision, a foreign-body sensation, photophobia, eye pain, miosis, and conjunctival injection. A dark speck may also be visible in the cornea.
Corneal ulcer
In this vision-threatening disorder, increased tearing is accompanied by severe photophobia and eye pain. Typically, the disorder begins with pain that’s aggravated by blinking. Ulcers also cause blurred vision, conjunctival injection, and a white opaque cornea. Bacterial ulcers also produce a copious purulent discharge that may form sticky crusts on the lids.
Dacryocystitis
Increased tearing and a purulent discharge are the chief complaints in this disorder, which usually affects only one eye. Associated signs and symptoms include pain and tenderness around the tear sac with marked eyelid edema and redness near the lacrimal punctum. Pressure on the tear sac expresses a thick, purulent discharge or, in chronic cases, a mucoid discharge.
Dry eye syndrome
Excessive dryness of the cornea and conjunctiva can cause reflex stimulation of the lacrimal gland and excess tearing.
Episcleritis
Commonly unilateral, this disorder causes increased tearing, photophobia, and—if the sclera is inflamed—eye pain and tenderness on palpation. Inspection reveals conjunctival injection and edema, a purplish pink sclera, and episcleral edema.
Eyelid contractions
In this disorder, increased tearing usually results from stricture of the canaliculi. Because eyelid contractions are caused by burns or chemical or mechanical trauma, eyelid scars are also commonly visible.
Herpes zoster
Increased tearing usually occurs when herpes zoster affects the trigeminal nerve. It’s accompanied by severe unilateral facial and eye pain that’s followed in several days by the eruption of vesicles. The patient’s eyelids are red and swollen with scanty serous discharge. Other common findings include a white, cloudy cornea and conjunctival injection.
Psoriasis vulgaris
When these psoriatic lesions affect the eyelids and extend into the conjunctivae, they may cause irritation, increased tearing, and a foreign-body sensation. The lesions are typically preceded by signs of chronic conjunctivitis, such as a copious mucoid discharge and conjunctival injection.
Punctum misplacement
Increased tearing is characteristic when ectropion involves the punctum, causing misplacement. It may be accompanied by exposure keratitis.
Raeder’s syndrome
This syndrome is characterized by periodic attacks of unilateral paroxysmal neuralgic pain in the face lasting 5 minutes or longer. The patient may exhibit increased tearing, ptosis, diplopia, enophthalmos, abnormal pupillary response, ipsilateral headache, and anhidrosis of the face and neck.
Scleritis
This rare chronic disorder causes increased tearing, photophobia, and severe eye pain with tenderness on palpation. Examination reveals conjunctival injection and a bluish purple sclera.
Thyrotoxicosis
This disorder may cause increased tearing, usually in both eyes. Other ocular effects include ptosis, lid edema, photophobia, a foreign-body sensation, conjunctival injection, chemosis, diplopia and, at times, exophthalmos. Common associated features are heat intolerance, weight loss despite increased appetite, nervousness, diaphoresis, diarrhea, tremors, tachycardia, palpitations, and an enlarged thyroid gland.
Trachoma
An early sign of trachoma, increased tearing is accompanied by visible conjunctival follicles, red and edematous eyelids, pain, photophobia, and exudation. If the infection is untreated, conjunctival follicles enlarge into inflamed papillae that later become yellow or gray and small blood vessels invade the cornea under the upper lid.
Other causes
Cholinergics
Miotics, such as pilocarpine, may increase tearing.
» READ BOOK EXCERPT ONLINE »
Source: Professional Guide to Signs & Symptoms (Fifth Edition), 2006
Common variable immunodeficiency:
Causes
(Handbook of Diseases)
Exactly what causes common variable immunodeficiency is unknown. Most patients have a normal circulating B-cell count but defective synthesis or release of immunoglobulins. Many also exhibit progressive deterioration of T-cell (cell-mediated) immunity, which is revealed by delayed hypersensitivity skin testing.
» READ BOOK EXCERPT ONLINE »
Source: Handbook of Diseases, 2003
Human immunodeficiency virus infection:
Causes
(Handbook of Diseases)
The virus has two major strains: HIV-1, which is closely related to the primate retrovirus called simian immunodeficiency virus, and HIV-2, which is associated with immunodeficiency but less pathogenic that HIV-1, results from infection with HIV, which strikes cells bearing the CD4+ antigen; the latter (normally a receptor for major histocompatibility complex molecules) serves as a receptor for the retrovirus and lets it enter the cell. HIV prefers to infect the CD4+ lymphocyte or macrophage but may also infect other CD4+ antigen-bearing cells of the GI tract, uterine cervical cells, and neuroglial cells. The virus gains access by binding to the CD4+ molecule on the cell surface along with a co-receptor (thought to be the receptor CCR5). After invading a cell, HIV either replicates, which leads to cell death, or becomes latent. HIV infection leads to profound pathology, either directly, through destruction of CD4+ T cells, other immune cells, and neuroglial cells, or indirectly, through the secondary effects of CD4+ T-cell dysfunction and resultant immunosuppression.
The infection process takes three forms:
❑ immunodeficiency (opportunistic infections and unusual cancers)
❑ autoimmunity (lymphoid interstitial pneumonia, arthritis, hypergammaglobulinemia, and production of autoimmune antibodies)
❑ neurologic dysfunction (AIDS dementia complex, HIV encephalopathy, and peripheral neuropathies).
Transmission
HIV is transmitted by direct inoculation during intimate sexual contact, especially associated with the mucosal trauma of receptive rectal intercourse; transfusion of contaminated blood or blood products (a risk diminished by routine testing of all blood products); sharing of contaminated needles; or transplacental or postpartum transmission from an infected mother to the fetus (by cervical or blood contact at delivery and in breast milk).
HIV isn’t transmitted by casual household or social contact. The average time between exposure to the virus and diagnosis is 8 to 10 years, but shorter and longer incubation times have also been recorded. Most people develop antibodies within 6 to 8 weeks of contracting the virus.
» READ BOOK EXCERPT ONLINE »
Source: Handbook of Diseases, 2003
Severe combined immunodeficiency disease:
Causes
(Handbook of Diseases)
SCID is usually transmitted as an autosomal recessive trait, although it may be X-linked. In most cases, the genetic defect seems associated with failure of the stem cell to differentiate into T and B lymphocytes.
Many molecular defects, such as mutation of the kinase ZAP-70, can cause SCID. X-linked SCID results from a mutation of a subunit of the interleukin-2 (IL-2), IL-4, and IL-7 receptors. Less commonly, it results from an enzyme deficiency.
» READ BOOK EXCERPT ONLINE »
Source: Handbook of Diseases, 2003
Hyper-aldosteronism:
Causes
(Handbook of Diseases)
Hyperaldosteronism may be primary or secondary. Most cases of primary hyperaldosteronism are due to benign aldosterone-producing adrenal adenomas. The remainder are due to bilateral adrenal hyperplasia. Rarely, adrenal carcinoma can cause primary hyperaldosteronism. The incidence is three times higher in women than in men and is highest between ages 30 and 50.
In primary hyperaldosteronism, chronic aldosterone excess is independent of the renin-angiotensin-aldosterone system and in fact suppresses plasma renin activity. This aldosterone excess enhances sodium reabsorption by the kidneys, which leads to mild hypernatremia and, simultaneously, hypokalemia and increased extracellular fluid volume. Expansion of intravascular fluid volume also occurs and results in volume-dependent hypertension and increased cardiac output.
Excessive ingestion of English black licorice or licorice-like substances can produce a syndrome similar to primary hyperaldosteronism due to the mineralocorticoid action of glycyrrhizic acid.
Secondary hyperaldosteronism results from an extra-adrenal abnormality that stimulates the adrenal gland to increase production of aldosterone. For example, conditions that reduce renal blood flow (renal artery stenosis) and extracellular fluid volume or produce a sodium deficit activate the renin-angiotensin-aldosterone system and, subsequently, increase aldosterone secretion. Thus, secondary hyperaldosteronism may result from conditions that induce hypertension through increased renin production (such as Wilms’tumor), ingestion of hormonal contraceptives, and pregnancy.
Secondary hyperaldosteronism may also result from disorders unrelated to hypertension. Such disorders may cause edema. For example, nephrotic syndrome, hepatic cirrhosis with ascites, and heart failure commonly induce edema; Bartter’s syndrome and salt-losing nephritis don’t.
» READ BOOK EXCERPT ONLINE »
Source: Handbook of Diseases, 2003
Hyper-parathyroidism:
Causes
(Handbook of Diseases)
Hyperparathyroidism may be primary or secondary:
❑ In primary hyperparathyroidism, one or more of the parathyroid glands enlarges, increasing PTH secretion and elevating serum calcium levels. The most common cause is a single adenoma. Primary hyperparathyroidism is also a component of multiple endocrine neoplasia, in which all four glands are usually involved.
❑ In secondary hyperparathyroidism, excessive compensatory production of PTH stems from a hypocalcemia-producing abnormality outside the parathyroid gland, such as rickets, vitamin D deficiency, chronic renal failure, and osteomalacia due to phenytoin.
» READ BOOK EXCERPT ONLINE »
Source: Handbook of Diseases, 2003
Hyper-lipoproteinemia:
Causes
(Handbook of Diseases)
Each type of hyperlipoproteinemia has distinct causes and incidence. (See Types of hyperlipoproteinemia, page 414.)
» READ BOOK EXCERPT ONLINE »
Source: Handbook of Diseases, 2003
Salivation, increased:
Medical causes
(Signs & Symptoms: A 2-in-1 Reference for Nurses)
Bell’s palsy
With Bell’s palsy, paralysis of the facial nerve causes an inability to control salivation or close the eye on the affected side. The affected side of the face sags and is expressionless, the nasolabial fold flattens, and the palpebral fissure (the distance between the upper and lower eyelids) widens. The corneal reflex may be diminished or absent and the patient may have partial loss of taste or abnormal taste sensation.
Mercury poisoning
Stomatitis, characterized by increased salivation and a metallic taste, commonly occurs in those with mercury poisoning. The patient’s teeth may be loose and his gums are painful, swollen, and prone to bleeding. A blue line appears on the gingivae. The patient may also experience personality changes, memory loss, abdominal cramps, diarrhea, paresthesia, and tremors of the eyelids, lips, tongue, and fingers.
Pregnancy
In the early months of pregnancy, many women experience increased salivation, nausea, gum swelling, and breast tenderness.
Stomatitis
Mucosal ulcers may be accompanied by moderately increased salivation, mouth pain, fever, and erythema. Spontaneous healing usually occurs in 7 to 10 days, but scarring and recurrence are possible.
Syphilis
With secondary syphilis, mucosal ulcers cause increased salivation that may persist up to 1 year. Related findings include fever, malaise, headache, anorexia, weight loss, nausea, vomiting, sore throat, and generalized lymphadenopathy. A bilaterally symmetrical rash appears on the arms, trunk, palms, soles, face, and scalp. Condylomata develop in the genital and perianal areas.
Tuberculosis
Certain forms of tuberculosis may produce solitary, irregularly-shaped mouth or tongue ulcers, covered with exudate, that cause increased salivation. Other findings include weight loss, anorexia, fever, fatigue, malaise, dyspnea, cough, night sweats (a common sign), and hemoptysis.
Other causes
Drugs
Increased salivation may occur with iodide toxicity, but the earliest symptoms are a brassy taste and a burning sensation in the mouth and throat. Associated findings include sneezing, irritated eyelids, and (commonly) pain in the frontal sinus.
Pilocarpine and other miotics used to treat glaucoma may be absorbed systemically, increasing salivation. Cholinergics, such as bethanechol and neostigmine, may also cause this symptom.
» READ BOOK EXCERPT ONLINE »
Source: Signs & Symptoms: A 2-in-1 Reference for Nurses, 2007
Tearing, increased:
Medical causes
(Signs & Symptoms: A 2-in-1 Reference for Nurses)
Conjunctival foreign bodies and abrasions
Increased tearing may accompany localized conjunctival injection, severe eye pain, and photophobia. A foreign-body sensation may be present. Typically, visual acuity isn’t affected.
Conjunctivitis
Typically, increased tearing is accompanied by conjunctival injection and itching. Allergic conjunctivitis also causes a stringy discharge. With bacterial conjunctivitis, other features include copious, purulent discharge; burning; a foreign-body sensation; and possibly eye pain if the cornea is involved. Associated signs of fungal conjunctivitis include lid edema, burning, and a copious, thick, purulent discharge that may form sticky crusts on the lids. The patient complains of photophobia and pain if the cornea is involved. Highly contagious viral conjunctivitis also causes a foreign-body sensation, slight exudate, and lid edema.
Corneal abrasion
Marked by severe corneal pain that’s aggravated by blinking, a corneal abrasion also causes increased tearing. Associated features are a foreign-body sensation, blurred vision, conjunctival injection, and photophobia, which makes opening the lids difficult.
Corneal foreign body
When a foreign body lodges in the cornea, the patient experiences increased tearing, blurred vision, a foreign-body sensation, photophobia, eye pain, miosis, and conjunctival injection. A dark speck may also be visible in the cornea.
Corneal ulcers
With corneal ulcers, a vision-threatening disorder, increased tearing is accompanied by severe photophobia and eye pain. Typically, an early symptom of a corneal ulcer is pain that’s aggravated by blinking. Ulcers also cause blurred vision, conjunctival injection, and a white, opaque cornea. Bacterial ulcers also produce a copious, purulent discharge that may form sticky crusts on the lids.
Dacryocystitis
Increased tearing and a purulent discharge are the chief complaints with dacryocystitis, which is commonly unilateral. Associated signs and symptoms include pain and tenderness around the tear sac with marked eyelid edema and redness near the lacrimal punctum. Pressure on the tear sac expresses a thick, purulent discharge or, in chronic cases, a mucoid discharge.
Dry eye syndrome
Excessive dryness of the cornea and conjunctiva can cause reflex stimulation of the lacrimal gland and excess tearing. Other signs and symptoms include eye pain, conjunctival injection, and itching.
Episcleritis
Commonly unilateral, episcleritis causes increased tearing, photophobia, and — if the sclera is inflamed — eye pain and tenderness on palpation. Inspection reveals conjunctival injection and edema, a purplish pink sclera, and episcleral edema.
Herpes zoster
Increased tearing usually occurs when herpes zoster affects the trigeminal nerve. It’s accompanied by severe unilateral facial and eye pain that’s followed by the eruption of vesicles within several days. The patient’s eyelids are red and swollen with scanty serous discharge. Other common findings include a white, cloudy cornea and conjunctival injection.
Lid contractions
With lid contractions, increased tearing usually results from stricture of the canaliculi. Because lid contractions are caused by burns or chemical or mechanical trauma, lid scars are also commonly visible.
Psoriasis vulgaris
When psoriasis vulgaris lesions affect the eyelids and extend into the conjunctiva, they may cause irritation, increased tearing, and a foreign-body sensation. The lesions are typically preceded by signs of chronic conjunctivitis, such as copious mucoid discharge and conjunctival injection.
Punctum misplacement
Increased tearing is characteristic when ectropion involves the punctum, causing misplacement. It may be accompanied by exposure keratitis.
Thyrotoxicosis
Thyrotoxicosis may cause increased tearing, usually in both eyes. Other ocular effects include ptosis, lid edema, photophobia, a foreign-body sensation, conjunctival injection, chemosis, diplopia and, at times, exophthalmos. Common associated features are heat intolerance, weight loss despite increased appetite, nervousness, sweating, diarrhea, tremors, tachycardia, palpitations, and an enlarged thyroid.
Other causes
Cholinergics
Miotics, such as pilocarpine, may increase tearing.
» READ BOOK EXCERPT ONLINE »
Source: Signs & Symptoms: A 2-in-1 Reference for Nurses, 2007
The treatment of HIV can be very complex with medicines that have to be taken several times a day. Now there are medicines that can be taken once a...
Diarrhea in people with HIV may be caused by the disease itself, complications of the disease, or a side effect of treatment. Experts describe the...
Elevated cholesterol can occur as a side effect from HIV treatments. Hear how one person with HIV steps up to the challenge of getting his...
Fat changes known as lipodystrophy can be very disturbing to people receiving antiretroviral therapy for HIV. Listen to experts discuss some...
See full list of 5 related videos
» Next page:
Symptoms of Hyper-IgM Syndrome
Rate This Website
What do you think about the features of this website?
Take our user survey and have your say:
Website User Survey
Medical Tools & Articles:
Next articles:
Tools & Services:
Medical Articles:
Forums & Message Boards
- Ask or answer a question at the Boards:
