Diagnostic Tests for SCID
SCID: Diagnostic Tests
The list of diagnostic tests
mentioned in various sources as
used in the diagnosis of SCID
includes:
SCID Tests: Book Excerpts
Home Diagnostic Testing
These home medical tests may be relevant to SCID:
- Home STD Testing
- Sexuality & Libido: Home Testing:
- Liver Health & Hepatitis: Home Testing
SCID Diagnosis: Book Excerpts
Tests and diagnosis discussion for SCID:
The doctor will order tests to
measure immune function. Because ongoing infections can interfere
with results, tests may have to be repeated several times.
Patients usually have a very low number of white blood cells
or lymphocytes, as well as few or no B and T cells. Those few cells
they do have often do not function properly. Also, SCID patients
have very low levels of IgG, IgA, and IgM
antibodies.
What causes
SCID?
A number of genetic abnormalities can
cause SCID. The two most common forms are linked to the X
chromosome. Patients with abnormalities on this chromosome either 1)
lack an enzyme called adenosine deaminase (ADA), or 2) lack the
ability to produce IL-2 receptor gamma chain, a molecule that T
cells need to communicate with B cells.
How is
SCID treated?
Transplanting bone marrow from a
healthy sibling whose tissue type closely matches the patient’s is
the most effective treatment. If a matched sibling is not available,
a donor as closely matched as possible is used. Until the transplant
takes effect (in one to three years), intravenous immunoglobulin
(IVIG) is given to normalize antibody levels. SCID patients with ADA
deficiency have been treated successfully with enzyme replacement
therapy called PEG-ADA. Gene therapy for correction of both forms of
SCID is under investigation.
(Source: excerpt from Primary Immune Deficiency, NIAID Fact Sheet: NIAID)
Diagnostic Tests for SCID: Online Medical Books
16 MEDICAL BOOKS ONLINE!
Review excerpts from medical books online, free, without registration,
for more information about the diagnostic tests for SCID.
Cough - Case 4-2: 7-Week-Old Boy:
III. Physical Examination
(Pediatric Complaints and Diagnostic Dilemmas)
T, 37.3°C; RR, 54/min; HR, 153 bpm; BP in right upper extremity, 93/59 mm Hg; BP in left
upper extremity, 87/62 mm Hg; BP in right lower extremity, 94/63 mm Hg; SpO
2, 95% in room air
Weight, 4.5 kg
Initial examination revealed a well-developed infant in moderate respiratory
distress. The physical examination was remarkable for nasal flaring,
intercostal retractions, and intermittent grunting. He had good aeration and
scattered rales at both lung bases. Cardiac examination revealed a normal first
heart sound (S
1) and a prominent second pulmonary sound (P2). A II-III/VI systolic murmur was appreciated at the left sternal border. The
liver edge was palpated 4 cm below the right costal margin. The remainder of
the physical examination was normal.
IV. Diagnostic Studies
Laboratory analysis revealed a peripheral blood count of 8,400 WBCs/mm3, with 35% segmented neutrophils, 60% lymphocytes, and 5% eosinophils. The
hemoglobin was 11.4 g/dL, and there were 203,000 platelets/mm
3. Electrolytes, blood urea nitrogen, and creatinine were all within normal
limits. Antigens of respiratory viruses were not detected by immunofluorescence
of nasopharyngeal washings.
» READ BOOK EXCERPT ONLINE »
Source: Pediatric Complaints and Diagnostic Dilemmas, 2003
Cough - Case 4-6: 4-Month-Old Boy:
III. Physical Examination
(Pediatric Complaints and Diagnostic Dilemmas)
T, 37.2°C; RR, 27 to 40/min; HR, 138 bpm; BP, not obtained; SpO2, 96% in room air and decreasing to 93% with feeds
Weight, 25th percentile
On examination, he was alert with moderate respiratory distress and frequent
episodes of coughing. His chest examination was significant for grunting with
substernal, intercostal, and supraclavicular retractions. Rales were
appreciated on the right with good aeration throughout. No wheezes were heard.
The remainder of his physical examination was within normal limits.
IV. Diagnostic Studies
The complete blood count revealed 25,400 WBCs/mm3, with 51% lymphocytes, 17% atypical lymphocytes, 25% segmented neutrophils, and
6% monocytes. The hemoglobin was 12.3 gm/dL, and the platelet count was
494,000/mm
3.
» READ BOOK EXCERPT ONLINE »
Source: Pediatric Complaints and Diagnostic Dilemmas, 2003
Diarrhea - Case 17-1: 2-Month-Old Boy:
III. Physical Examination
(Pediatric Complaints and Diagnostic Dilemmas)
T, 36.9C; RR, 32/min; HR, 136 bpm; BP, 100/54 mm Hg
Weight, 5th percentile
On examination, the infant was alert and in no acute distress. His head, neck,
cardiac, and respiratory examinations were unremarkable. He was well hydrated
with a nontender and nondistended, soft abdomen. There was no
hepatosplenomegaly. There were no abdominal masses. He had normal male
genitalia, with bilaterally descended testicles. A tender, firm, and
erythematous mass measuring 5
× 3 cm was palpable in the right inguinal region.
IV. Diagnostic Studies
The complete blood count revealed 10,100 white blood cells (WBCs)/mm3, with 11% segmented neutrophils and 76% lymphocytes). The hemoglobin was 10.8
g/dL with a mean corpuscular volume of 87 fL, and the platelet count was
387,000 mm
3. Serum electrolytes, blood urea nitrogen (BUN), and creatinine values were
normal.
» READ BOOK EXCERPT ONLINE »
Source: Pediatric Complaints and Diagnostic Dilemmas, 2003
Diarrhea - Case 17-4: 15-Month-Old Boy:
III. Physical Examination
(Pediatric Complaints and Diagnostic Dilemmas)
T, 36.8°C; RR, 26/min; HR, 100 bpm; BP, 102/53 mm Hg
Weight, less than 5th percentile (50th percentile for a 6-month-old child);
height, 10th percentile
The initial examination revealed a quiet, gaunt-appearing child. His eyes were
sunken, but the rest of the head, eyes, ears, nose, mouth, and throat
examination was unremarkable. His cardiac and respiratory examinations were
normal. His abdominal examination revealed no masses. His liver edge was
palpable at the right costal margin. There was no clubbing of the fingers. He
had dry skin around his nose and lips. He had very little subcutaneous fat. His
neurologic examination was nonfocal.
IV. Diagnostic Studies
Laboratory analysis revealed 11,100 WBCs/mm3 with 29% segmented neutrophils, 66% lymphocytes, and 5% monocytes. The
hemoglobin was 12.2 g/dL, and there were 492,000 platelets/mm
3. Electrolytes were significant for a potassium concentration of 2.8 mmol/L and
a bicarbonate concentration 16 mmol/L. His ESR was 4 mm/hour. Urinalysis was
negative, with a urine specific gravity of 1.005. The serum alkaline
phosphatase level was low at 115 U/L, whereas ALT was elevated at 59 U/L, AST
at 64 U/L, and lactate dehydrogenase at 845 U/L.
» READ BOOK EXCERPT ONLINE »
Source: Pediatric Complaints and Diagnostic Dilemmas, 2003
Jaundice - Case 15-3: 2-Month-Old Boy:
III. Physical Examination
(Pediatric Complaints and Diagnostic Dilemmas)
T, 37.3°C; RR, 24/min; HR, 140 bpm; BP, 96/60 mm Hg
Weight, 3.6 kg (less than 3rd percentile); length, 52 cm (less than 3rd
percentile); head circumference, 38 cm (10th percentile)
Physical examination revealed a cachectic, somewhat icteric 2-month-old boy in
no apparent distress. There was scleral icterus and a 5
× 5 cm anterior fontanel; the oropharynx was clear, with moist mucous membranes.
His neck was supple without lymphadenopathy or masses. Breath sounds were clear
and unlabored. His pulse was regular, and there was no murmur. The abdomen was
soft, nontender, and nondistended; the liver edge was palpable just below the
right costal margin, and a small umbilical hernia was present. The testes were
palpable (but not fully descended) bilaterally; the penis appeared small, with
a stretched penile length of 2.0 cm. The baby appeared alert with grossly
normal tone and reflexes. The remainder of the examination was unremarkable.
IV. Diagnostic Studies
Serum electrolyte measurement revealed the following: sodium, 131 mEq/L;
potassium, 4.1 mEq/L; chloride, 100 mEq/L; bicarbonate, 22 mEq/L; BUN, 14
mg/dL; creatinine; 0.2 mg/dL; and glucose, 50 mg/dL. The complete blood count
revealed 8,000 WBCs/mm
3 with 5% band forms, 30% segmented neutrophils, and 52% lymphocytes. The
hemoglobin was 9.2 g/dL, and the reticulocyte count was 1.7%. The total
bilirubin measured 10.5 mg/dL; the direct and unconjugated bilirubin levels
were 1.5 and 9.0 mg/dL, respectively. Serum albumin was normal. ALT was 46 U/L,
AST was 87 U/L, and GGT was 125 U/L.
Abdominal ultrasound examination of the liver revealed normal size, slightly
increased echogenicity, and a small, nondistended gall bladder without biliary
dilatation. The spleen and kidneys were normal. A sweat test was attempted, but
an insufficient amount of sweat was obtained to properly interpret the test.
» READ BOOK EXCERPT ONLINE »
Source: Pediatric Complaints and Diagnostic Dilemmas, 2003
Pallor - Case 10-1: 3-Week-Old Boy:
III. Physical Examination
(Pediatric Complaints and Diagnostic Dilemmas)
T, 36.7°C; RR, 46 to 66/min; HR, 166 to 230 bpm; BP, 70/37 mm Hg
Weight, 3.1 kg (25th percentile); height, 50 cm (50th percentile); head
circumference, 36 cm (approximately 75th percentile)
On examination, the infant awakened easily and cried. He was remarkably
pale-appearing. The anterior fontanel was open and flat. The conjunctivae were
pale. The sclerae were anicteric. Mucous membranes were moist. The clavicles
were intact. The infant was tachypneic, but the lungs were clear to
auscultation. On cardiac examination, normal first and second heart sounds (S1
and S2, respectively) were heard. A III/VI systolic murmur was best appreciated
at the left upper sternal border. There were no gallops or rubs. No murmurs
were heard along the back. The liver edge was just palpable, but the spleen was
not palpable. The area of known extremity fracture had minimal edema but no
tenderness. There was some widening of the right distal femur compared with the
left. The remainder of the examination was normal.
IV. Diagnostic Studies
Complete blood count revealed the following: 11,300 white blood cells (WBCs)/mm3 (1% metamyelocytes, 43% segmented neutrophils, 34% lymphocytes, and 19%
monocytes); hemoglobin, 3.9 g/dL; 430,000 platelets/mm
3; MCV, 117 fL; RBC distribution width (RDW), 17; and reticulocyte count, 0.3%.
The peripheral blood smear revealed a few small spherocytes but no
schistocytes, burr cells, or target cells.
» READ BOOK EXCERPT ONLINE »
Source: Pediatric Complaints and Diagnostic Dilemmas, 2003
Pallor - Case 10-3: 5-Month-Old Boy:
III. Physical Examination
(Pediatric Complaints and Diagnostic Dilemmas)
T, 38.4°C; RR, 58/min; HR, 160 bpm; BP, 83/38 mm Hg
Weight, 5.7 kg
In general, the child was lethargic and responsive only to painful stimuli. He
also had severe respiratory distress. The anterior fontanel was sunken. The
pupils were equal, round, and reactive to light. The conjunctivae and oral
mucosae were pale. The lips were dry and cracked. There were white patches on
the buccal mucosa that were easily removed with scraping. There was shotty
anterior and posterior cervical adenopathy. The lungs were clear to
auscultation, but the child had mild grunting and flaring. There was a II/VI
systolic ejection murmur at the left lower sternal border. The abdomen was
firm, with a liver edge palpable 5 cm below the right costal margin. The spleen
was palpable at the level of the umbilicus. Bowel sounds were present. The
extremities were cool with delayed capillary refill (5 seconds). On neurologic
examination, the child localized pain but had decreased tone and diminished
spontaneous activity.
In the emergency department, the patient had an oxygen saturation of 94% in room
air. He received several normal saline boluses as well as sodium bicarbonate
and intravenous dextrose. Blood and urine cultures were obtained. Intravenous
cefotaxime was given for presumed sepsis.
IV. Diagnostic Studies
The complete blood count revealed the following: 14,100 WBCs/mm3 (2% band forms; 52% segmented neutrophils, 42% lymphocytes, 2% eosinophils, and
2% atypical lymphocytes); hemoglobin, 2.6 g/dL; 184,000 platelets/mm
3; MCV, 88 fL; RDW, 17.4. The total bilirubin was 4.6 mg/dL with an unconjugated
level of 3.8 mg/dL. Hepatic transaminases, were normal but the lactate
dehydrogenase level was 2,984 IU/L (normal range, 934 to 2,150 IU/L). The chest
radiograph was normal. There was no cardiomegaly, infiltrates, or mediastinal
masses.
» READ BOOK EXCERPT ONLINE »
Source: Pediatric Complaints and Diagnostic Dilemmas, 2003
Seizures - Case 19-3: 8-Month-Old Boy:
III. Physical Examination
(Pediatric Complaints and Diagnostic Dilemmas)
T, 36.2°C; RR, 20/min; HR, 90 to 110 bpm; BP, 120/55 mm Hg; SpO2, 100% in room air
Height, 25th percentile; weight, 10th percentile; head circumference, 25th
percentile
On examination, he was thin but playful and interactive. The anterior fontanel
was open and flat. His pupils were symmetrically reactive to light. The heart
sounds were normal, and the lungs were clear to auscultation. His abdomen was
slightly protuberant, with a liver edge that was firm and palpable 6 cm below
the right costal margin. The spleen tip was just palpable below the left costal
margin. There was no ascites or palpable abdominal mass. The infant was
circumcised and had normal male genitalia. The neurological examination was
normal. He was able to sit without support and maintained good head control.
Deep tendon reflexes were 2+ and symmetric. The gag reflex was intact. There
were no hyperpigmented or hypopigmented skin lesions.
IV. Diagnostic Studies
Serum chemistry values included sodium, 137 mmol/L; potassium, 5.5 mmol/L;
chloride, 100 mmol/L; bicarbonate, 13 mmol/L; calcium, 10.5 mg/dL; phosphorous,
6.5 mg/dL; and serum glucose 20 mg/dL. The cholesterol and triglyceride
concentrations were 465 and 4,070 mg/dL, respectively. Hepatic function tests
included AST, 125 U/L; ALT, 155 U/L; GGT, 564 U/L; total bilirubin, 0.6 mg/dL;
and albumin, 4.0 g/dL. Serum and urinary ketones were present. The WBC count,
hemoglobin, and platelet count, as well as prothrombin and partial
thromboplastin times, were normal. Blood, urine, and stool cultures were
obtained.
» READ BOOK EXCERPT ONLINE »
Source: Pediatric Complaints and Diagnostic Dilemmas, 2003
Vomiting - Case 3-1: 7-Week-Old Boy:
III. Physical Examination
(Pediatric Complaints and Diagnostic Dilemmas)
T, 38.1°C; RR, 50/min; HR, 170 bpm; BP, 86/38 mm Hg; SpO2, 88% in room air
Weight, 4.0 kg (10th percentile); length, 25th percentile; head circumference,
10th percentile
Examination revealed a well-nourished infant who was crying but consolable (Fig.
3-1).
The anterior fontanelle was open and slightly sunken. The mucous membranes were
moist, and the sclerae were nonicteric. The lungs were clear to auscultation,
and the cardiac examination was normal without any murmurs. The abdomen was
soft and mildly distended, without hepatomegaly or splenomegaly. The
extremities were cool. He had no rashes, good tone, and a symmetric neurologic
examination.
IV. Diagnostic Studies
Laboratory evaluation revealed 24,500 white blood cells(WBCs)/mm3, with 9% band forms, 24% segmented neutrophils, 40% lymphocytes, 20% monocytes,
and 5% atypical lymphocytes. The hemoglobin was 15.2 g/dL, and the platelet
count was 577,000 cells/mm
3. On red blood cell morphologic analysis, mild anisocytosis, poikilocytosis, and
burr cells were noted. Serum chemistries and cerebral spinal fluid analysis
were normal. His urine was dark yellow and turbid, with a specific gravity of
1.038, a pH of 5.5, 3+ protein, and 5 to 10 granular casts without bacteria,
nitrites, or WBCs. On chest radiography, the cardiac silhouette and lung fields
were normal.
» READ BOOK EXCERPT ONLINE »
Source: Pediatric Complaints and Diagnostic Dilemmas, 2003
Wheezing - Case 1-3: 5-Week-Old Boy:
III. Physical Examination
(Pediatric Complaints and Diagnostic Dilemmas)
T, 38.5°C; HR, 180 bpm; RR, 70/min.; BP, 62/40 mm Hg; SpO2, 96% in room air
Length, 25th percentile; weight, 50th percentile
The infant was ill-appearing and in moderate respiratory distress. His anterior
fontanelle was open and flat. There was no conjunctival injection or discharge.
There was intermittent grunting and nasal flaring. Moderate intercostal and
subcostal retractions were present. Breath sounds were diminished throughout
the left chest. The right lung was clear to auscultation. There was no
wheezing. The heart sounds were normal. The liver was palpable 1 cm below the
right costal margin. The spleen was not palpable. The Moro reflex, grasp, tone,
and reflexes were normal. There were no rashes or petechiae.
IV. Diagnostic Studies
Arterial blood gas revealed the following: pH, 7.40; carbon dioxide tension
(PaCO
2), 40 mm Hg; oxygen tension (PaO2), 214 mm Hg; and bicarbonate, 26 mEq/L. The complete blood count demonstrated
37,900 WBCs/mm
3, including 3% band forms, 67% segmented neutrophils, and 30% lymphocytes. The
platelet count was 520,000/mm
3, and hemoglobin was 9.4 g/dL. Serum electrolytes, blood urea nitrogen, and
creatinine were normal. There were no WBCs, protein, or nitrites on
urinanalysis. A blood culture was obtained. Lumbar puncture was not performed
due to the patient
's respiratory distress. Chest radiography demonstrated left lower lobe
consolidation with an associated pleural effusion causing rightward shift of
the mediastinal structures (Fig. 1-4).
» READ BOOK EXCERPT ONLINE »
Source: Pediatric Complaints and Diagnostic Dilemmas, 2003
Wheezing - Case 1-5: 5-Week-Old Boy:
III. Physical Examination
(Pediatric Complaints and Diagnostic Dilemmas)
T, 37.7°C; RR, 60/min; BP, 78/37 mm Hg; HR 160 bpm; SpO2, 88% in room air
Weight, 3.0 kg (less than 5th percentile); length, 49 cm (less than 5th
percentile)
Physical examination revealed a cyanotic infant in moderate respiratory
distress. The anterior fontanelle was open and flat. There was no conjunctival
injection. There were no oral mucosal ulcerations. Capillary refill was brisk.
The heart sounds were normal. Femoral pulses were palpable. There were
intercostal retractions. Rales and wheezes were present diffusely. The liver
edge was palpable 3 cm below the right costal margin. The remainder of the
examination was normal.
IV. Diagnostic Studies
Laboratory analysis revealed 10,200 WBCs/mm3, with 76% segmented neutrophils, 19% lymphocytes, and 3% monocytes. The
hemoglobin was 13.0 g/dL, and there were 350,000 platelets/mm
3. Hepatic function panel was as follows: total bilirubin, 0.3 mg/dL; alanine
aminotransferase, 32 U/L; aspartate aminotransferase, 66 U/L. The prothrombin
and partial thromboplastin times and fibrinogen split products were normal.
Blood cultures were obtained. Chest radiography revealed diffuse interstitial
pulmonary edema but a normal cardiothymic silhouette.
» READ BOOK EXCERPT ONLINE »
Source: Pediatric Complaints and Diagnostic Dilemmas, 2003
Wheezing - Case 1-6: 4-Month-Old Boy:
III. Physical Examination
(Pediatric Complaints and Diagnostic Dilemmas)
T, 37.0°C; RR, 76/min; HR, 120 bpm; BP, 102/72 mm Hg; SpO2, 93% with 3 L O2/min by nasal cannula
Weight, 10th to 25th percentile; length, 10th percentile; head circumference,
10th percentile
He was awake and alert. The anterior fontanelle was open and flat. He had
flaring of the alae nasi. There were moderate intercostal, subcostal, and
supraclavicular retractions. Scattered rhonchi were present, with diminished
breath sounds at the bases bilaterally. There was no focal wheezing. The heart
sounds were normal. The spleen was palpable just below the left costal margin.
The remainder of the examination was normal.
IV. Diagnostic Studies
The WBC count was 10,200/mm3, with 15% band forms, 68% segmented neutrophils, and 12% lymphocytes. The
hemoglobin was 10.3 g/dL, and the platelet count was 277,000/mm
3. Arterial blood gas analysis revealed the following: pH, 7.42; PaCO2, 30 mm Hg; and PaO2, 90 mm Hg. Hepatic function panel revealed a total bilirubin of 0.3 mg/dL;
alanine aminotransferase, 55 U/L; aspartate aminotransferase, 82 U/L, and
lactate dehydrogenase, 3,280 U/L. No antigens to respiratory syncytial virus;
parainfluenza types 1, 2, and 3; influenza A and B; or adenovirus were detected
by immunofluorescence of nasopharyngeal aspirate. Serum immunoglobulin (Ig)
results were as follows: IgA, 24 mg/dL (normal range, 27 to 73 mg/dL); IgM, 528
mg/dL (normal range, 37 to 124); and IgG, 650 mg/dL (normal range, 292 to 816
mg/dL).
» READ BOOK EXCERPT ONLINE »
Source: Pediatric Complaints and Diagnostic Dilemmas, 2003
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