Symptoms of SCID
Symptoms of SCID
The list of signs and symptoms mentioned in various sources
for SCID includes the 35
symptoms listed below:
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SCID Symptoms: Book Excerpts
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Diagnostic testing of medical conditions related to SCID:
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Less Common Symptoms of SCID:
Ocassionally other symptoms may also present themselves as symptoms of SCID.
2
of the more common ones are included in the list below:
Wrongly Diagnosed with SCID?
The list of other diseases or medical conditions
that may be on the differential diagnosis list of alternative diagnoses
for SCID includes:
See the full list of 12
alternative diagnoses for SCID
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More about symptoms of SCID:
More information about symptoms of SCID and related conditions:
Other Possible Causes of these Symptoms
Click on any of the symptoms below to see a full list
of other causes including diseases, medical conditions, toxins, drug interactions,
or drug side effect causes of that symptom.
Medical Books Online about SCID
Medical Books Excerpts
Excerpts of published medical book chapters related to SCID
are available from published medical books
for more detailed information about SCID.
Copyright notice for book excerpts: Copyright © 2008 Lippincott Williams & Wilkins. All rights reserved.
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Symptoms of SCID: Online Medical Books
16 MEDICAL BOOKS ONLINE!
Review excerpts from medical books online, free, without registration,
for more information about the symptoms of SCID.
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.
» READ BOOK EXCERPT ONLINE »
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.
» READ BOOK EXCERPT ONLINE »
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.
» READ BOOK EXCERPT ONLINE »
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.
» READ BOOK EXCERPT ONLINE »
Source: Handbook of Diseases, 2003
Cough - Case 4-2: 7-Week-Old Boy:
IV. Clinical Presentation
(Pediatric Complaints and Diagnostic Dilemmas)
Pulmonary vascular resistance determines the extent of the left-to-right shunt.
Pulmonary vascular resistance is elevated at birth and declines to adult levels
over the first week of life. Therefore, with small VSDs, usually no heart
murmur is heard at birth. Most often, the murmur is heard at about 1 to 6 weeks
of age; it is usually holosystolic, harsh, and located along the left sternal
border. Most infants with small VSDs have no significant symptoms and thrive.
In those infants with moderate or large VSDs, symptoms may develop at about 2
weeks of age and can include tachypnea, irritability, diaphoresis or fatigue
with feeding, and failure to thrive. These symptoms develop secondary to
progressive heart failure and pulmonary edema. Not uncommonly, symptoms come to
attention immediately after a respiratory infection, which stresses the infant
's small reserve. With large defects, infants often have a hyperactive precordium
with a palpable thrill. Large VSDs, like small ones, produce an associated
harsh, holosystolic murmur located along the left sternal border.
» READ BOOK EXCERPT ONLINE »
Source: Pediatric Complaints and Diagnostic Dilemmas, 2003
Cough - Case 4-6: 4-Month-Old Boy:
IV. Clinical Presentation
(Pediatric Complaints and Diagnostic Dilemmas)
The incubation period is 1 to 3 weeks. Infection is divided into three stages.
The catarrhal stage begins with symptoms of a mild upper respiratory tract
infection and lasts a few days to 1 week. The paroxysmal stage follows, with
the characteristic inspiratory whoop. Posttussive emesis is common, and fever
is infrequent. The whoop is typically absent in infants, because they are
unable to generate the force needed for this maneuver.
Increased intrathoracic and intraabdominal pressures during coughing may lead to
conjunctival and scleral hemorrhages, petechiae on the upper body, epistaxis,
and retinal hemorrhages. In infancy, apnea is a common complication of
B. pertussis infections. Even young adults can have episodes of laryngospasm. Seizures result
from either hypoxia or hyponatremia due to inappropriate secretion of
antidiuretic hormone.
In most cases, a pertussis infection lasts 6 to 10 weeks, but it is not uncommon
for infants and children to have persistent coughs for 3 to 4 months.
Respiratory distress between paroxysms of coughing suggests superinfection with
various viruses (adenovirus, respiratory syncytial virus, cytomegalovirus) or
bacteria (
S. pneumoniae, S. aureus). Other complications include pneumothorax, encephalopathy, and feeding
difficulties in infancy. The disease is most severe in infants younger than 1
year of age, especially premature infants.
» READ BOOK EXCERPT ONLINE »
Source: Pediatric Complaints and Diagnostic Dilemmas, 2003
Diarrhea - Case 17-1: 2-Month-Old Boy:
IV. Clinical Presentation
(Pediatric Complaints and Diagnostic Dilemmas)
An inguinal hernia usually manifests as an asymptomatic swelling in the scrotal
or labial area that increases in size with any increase in intraabdominal
pressure, as occurs with crying or straining. Reducible hernias disappear
spontaneously or with minimal pressure. An incarcerated hernia develops when a
loop of bowel becomes trapped, and it is accompanied by severe pain and signs
of bowel obstruction, such as bilious emesis. Strangulation of the herniated
loop of bowel occurs when the blood supply to the bowel is compromised and may
develop within 2 hours after incarceration. Urgent medical attention is
required in cases of incarceration, and emergency surgical intervention may be
necessary in cases of strangulation.
» READ BOOK EXCERPT ONLINE »
Source: Pediatric Complaints and Diagnostic Dilemmas, 2003
Diarrhea - Case 17-4: 15-Month-Old Boy:
IV. Clinical Presentation
(Pediatric Complaints and Diagnostic Dilemmas)
Most pediatric patients with neuroblastoma are diagnosed by 5 years of age, and
most tumors are intraabdominal in location. However, patients older than 1 year
of age have a higher incidence of intrathoracic and cervical tumors, compared
with younger patients. Among children older than 1 year of age, 75% present
with a disseminated, advanced stage of disease and account for a significant
proportion of neuroblastoma-associated mortality. Infants younger than 1 year
of age tend to present with lower-stage disease and have much higher cure
rates. Some of the tumors in this latter group even undergo spontaneous
regression. One percent of patients have no detectable primary tumor. In 35% of
children, neuroblastoma metastases occur to the regional lymph nodes,
qualifying as disseminated disease. Hematogenous spread to bone, bone marrow,
liver, and skin also occurs. Late metastases are seen in the brain and lung.
Patients may present with a large abdominal mass or with respiratory distress
secondary to the intraabdominal mass. Intrathoracic tumors are often
incidentally found. Opsoclonus-myoclonus is an well-defined presenting syndrome
for neuroblastoma. Presentation as severe secretory diarrhea, as in this case,
is known as Verner-Morrison syndrome.
» READ BOOK EXCERPT ONLINE »
Source: Pediatric Complaints and Diagnostic Dilemmas, 2003
Jaundice - Case 15-3: 2-Month-Old Boy:
IV. Clinical Presentation
(Pediatric Complaints and Diagnostic Dilemmas)
Prolonged neonatal jaundice may be the first sign of congenital hypothyroidism
and hypopituitarism. Feeding difficulties, apnea, noisy breathing, and overall
sluggishness are other common manifestations. Physical findings specifically
attributable to hypothyroidism can include a relatively large head, anterior
fontanel, tongue, and abdomen; umbilical hernia; edema; and a
lower-than-expected pulse and temperature. Mental and physical development
become increasingly retarded over time when hypothyroidism goes undetected and
uncorrected.
Among the physical findings that may be detected in patients with congenital
hypopituitarism are micropenis, midline craniofacial defects (e.g., cleft lip
or palate), a single central incisor, and signs of hypoglycemia or
hypocortisolism, such as lethargy or apnea. The possibility of septo-optic
dysplasia should be considered whenever congenital hypopituitarism is
diagnosed. In addition to the neuroendocrine deficiency, these patients have
optic nerve hypoplasia and agenesis of the septum pellucidum.
» READ BOOK EXCERPT ONLINE »
Source: Pediatric Complaints and Diagnostic Dilemmas, 2003
Pallor - Case 10-1: 3-Week-Old Boy:
IV. Clinical Presentation
(Pediatric Complaints and Diagnostic Dilemmas)
Pallor caused by anemia in the early months of life characterizes this form of
anemia. About one third of patients have an associated finding. There are many
associated anomalies, including characteristic facies, thumb anomalies, short
stature, eye abnormalities including glaucoma, renal anomalies, hypogonads,
skeletal anomalies, congenital heart disease, and mental retardation. There is
a wide range of involvement. The current median survival rate is 45 years. Some
patients progress to full aplastic anemia, and about 5% develop leukemia or
myelodysplasia.
» READ BOOK EXCERPT ONLINE »
Source: Pediatric Complaints and Diagnostic Dilemmas, 2003
Seizures - Case 19-3: 8-Month-Old Boy:
IV. Clinical Presentation
(Pediatric Complaints and Diagnostic Dilemmas)
GSD type I is characterized by severe hypoglycemia occurring within 3 to 4 hours
after a meal. Although symptomatic hypoglycemia may appear soon after birth,
most patients are asymptomatic as long as they receive frequent feeds that
contain sufficient glucose to prevent hypoglycemia. Symptoms of hypoglycemia
appear only when the interval between feedings increases, such as when the
child begins to sleep through the night or when an intercurrent illness
disrupts normal feeding patterns.
Patients may have hyperpnea from lactic acidosis. Untreated patients have poor
weight gain and growth retardation. Most patients have a protuberant abdomen
and hepatomegaly due to glycogen deposition and fatty infiltration. Social and
cognitive development are normal unless the infant suffers neurologic
impairment after frequent hypoglycemic seizures. Xanthomas may appear on the
extensor surfaces of the extremities and buttocks. Older children develop gout.
» READ BOOK EXCERPT ONLINE »
Source: Pediatric Complaints and Diagnostic Dilemmas, 2003
Vomiting - Case 3-1: 7-Week-Old Boy:
IV. Clinical Presentation
(Pediatric Complaints and Diagnostic Dilemmas)
The clinical presentation of patients with methemoglobinemia depends on the
serum concentrations of both hemoglobin and methemoglobin. Increasing
methemoglobin levels are associated with progressively worsening symptoms.
Patients with lower serum hemoglobin concentrations are affected at lower
levels of methemoglobin. Patients with methemoglobin concentrations lower than
10% rarely have symptoms unless they are already anemic. Most patients with
concentrations of methemoglobin between 10% and 25% have cyanosis but few other
symptoms. Depending on the degree of cyanosis, metabolic acidosis may also
develop. Levels from 30% to 50% are associated with confusion, dizziness,
fatigue, headache, tachypnea, and tachycardia. Levels greater than 50% are
associated with severe acidosis, arrhythmias, seizures, lethargy, and coma.
Lethal levels occur at methemoglobin concentrations of about 70%.
» READ BOOK EXCERPT ONLINE »
Source: Pediatric Complaints and Diagnostic Dilemmas, 2003
Wheezing - Case 1-3: 5-Week-Old Boy:
IV. Clinical Presentation
(Pediatric Complaints and Diagnostic Dilemmas)
Most children with extralobar pulmonary sequestration present during the first
year of life. They may be discovered during the neonatal period while
undergoing evaluation of other congenital anomalies. In such cases, the
associated congenital anomalies usually dominate the clinical picture. A few
children with extralobar sequestration present with respiratory distress when
the sequestered lobe impairs ventilation by impinging on the surrounding lung.
Cases not diagnosed in the neonatal period may be detected incidentally on
chest radiographs obtained during a respiratory illness. Infection of an
extralobar sequestration is uncommon.
Intralobar pulmonary sequestration is rarely detected during infancy; two thirds
of patients present after 10 years of age. Common symptoms include productive
cough, hemoptysis, recurrent pneumonia, fever, and chest pain. A few patients
with large supplying arteries have worsening exercise tolerance or congestive
heart failure due to a large systemic arterial-to-pulmonary venous shunt
through the sequestration. Infection of the sequestration, usually due to a
fistula between the sequestration and the respiratory or digestive tract,
occurs more commonly with intralobar than with extralobar sequestrations.
Physical examination reveals dullness to percussion and decreased breath sounds
in the area of the sequestration. Digital clubbing and cyanosis may be present.
Skeletal abnormalities such as pectus excavatum, thoracic asymmetry, and rib
anomalies are noted in some patients. Rarely, an intrathoracic bruit is heard
in the region of the sequestration.
» READ BOOK EXCERPT ONLINE »
Source: Pediatric Complaints and Diagnostic Dilemmas, 2003
Wheezing - Case 1-5: 5-Week-Old Boy:
IV. Clinical Presentation
(Pediatric Complaints and Diagnostic Dilemmas)
The clinical presentation of children with TAPVC depends on the presence or
absence of pulmonary venous obstruction. Most children without obstruction
present with tachypnea and failure to thrive, with gradually worsening cyanosis
and congestive heart failure. Approximately 50% have symptoms during the first
month of life, and the remainder during the first year. Cyanosis may be minimal
initially, but it increases as congestive heart failure progresses. Cyanosis
occurs because the pulmonary veins carry oxygenated blood to the systemic
venous circulation instead of to the left atrium. Congestive heart failure
occurs because of increased pulmonary blood flow and pulmonary hypertension.
Hepatomegaly and peripheral edema often accompany cardiac failure. There is no
cardiac murmur.
Obstruction is more common in children with infradiaphragmatic TAPVC because of
venous compression as the common venous trunk passes through either the
esophageal hiatus of the diaphragm or the portal venous circulation. Most
children with infradiaphragmatic TAPVC, and one third of children with
supracardiac TAPVC, present with pulmonary venous obstruction. These infants
are usually asymptomatic at birth but develop symptoms within the first few
weeks of life. Infants with pulmonary venous obstruction present with rapidly
progressive dyspnea, pulmonary edema, cyanosis, and congestive heart failure.
Alteration in the character of the cry (“neonatal dysphonia”) occurs in one fourth of infants with supracardiac TAPVC as a result of
compression of the left recurrent laryngeal nerve as it passes the dilated
common pulmonary vein. Infants with infradiaphragmatic TAPVC may have worsening
cyanosis with swallowing, straining, and crying, as a consequence of
interference with pulmonary venous outflow caused by increased intraabdominal
pressure or impingement of the esophagus on the common pulmonary vein as it
exits through the esophageal hiatus. The child in the presented case did not
have pulmonary venous obstruction despite having infradiaphragmatic TAPVC. His
history of cyanosis with crying is consistent with infradiaphragmatic TAPVC.
» READ BOOK EXCERPT ONLINE »
Source: Pediatric Complaints and Diagnostic Dilemmas, 2003
Wheezing - Case 1-6: 4-Month-Old Boy:
IV. Clinical Presentation
(Pediatric Complaints and Diagnostic Dilemmas)
Infants with unrecognized HIV usually develop PCP between 2 and 6 months of age.
A bronchiolitis-like illness occurs, with gradually worsening tachypnea and
accessory muscle use. Physical examination reveals the absence of fever and a
paucity of findings on auscultation. Rales and cyanosis develop as the illness
progresses.
In older HIV-infected children, the spectrum of clinical manifestations varies.
The symptoms may initially be mild and slowly progressive, delaying the
diagnosis. High fevers are common. Findings on lung auscultation are often
unimpressive compared with the degree of dyspnea, tachypnea (80 to 100/minute)
and hypoxia. Scattered rales, rhonchi, or wheezes may be heard as the illness
resolves. In children with an underlying non-AIDS immunodeficiency disorder
such as leukemia or solid organ transplantation, the onset of symptoms occurs
more abruptly than in HIV-infected children, but the physical examination
findings are similar.
» READ BOOK EXCERPT ONLINE »
Source: Pediatric Complaints and Diagnostic Dilemmas, 2003
Article Excerpts About Symptoms of SCID:
Genes and Disease by the National Center for Biotechnology (Excerpt)
Without a functional immune system, SCID patients are susceptible to recurrent infections such as pneumonia, meningitis and chicken pox, and can die before the first year of life.
(Source: Genes and Disease by the National Center for Biotechnology)
Primary Immune Deficiency, NIAID Fact Sheet: NIAID (Excerpt)
Babies typically have symptoms within the
first three months of life. They usually get numerous, serious or
life-threatening infections, especially pneumonia, meningitis, and
sepsis. Common infections like chickenpox, measles, or cold sores
can overwhelm the patient's immune system. Patients also commonly
have chronic skin infections, candida (yeast) infections of the
mouth and diaper area, chronic hepatitis, diarrhea, and blood
disorders. (Source: excerpt from Primary Immune Deficiency, NIAID Fact Sheet: NIAID)
SCID as a Cause of Symptoms or Medical Conditions
When considering symptoms of SCID, it is also important to consider SCID as a possible cause of other medical conditions.
The Disease Database lists the following medical conditions that SCID may cause:
- (Source - Diseases Database)
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 SCID:
The symptom information on this page
attempts to provide a list of some possible signs and symptoms of SCID.
This signs and symptoms information for SCID has been gathered from various sources,
may not be fully accurate,
and may not be the full list of SCID signs or SCID symptoms.
Furthermore, signs and symptoms of SCID 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 SCID symptoms.
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» Next page: Diagnostic Tests for SCID
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