eMedicine Specialties > Allergy and Immunology > Immunodeficiencies

DiGeorge Syndrome: Differential Diagnoses & Workup

Author: Patrick Htain Win, MD, President/Director, Allergy, Asthma and Immunology Center, SC
Coauthor(s): Sridhar Guduri, MD, Consulting Staff, Allergy and Asthma Clinics of Ohio; Iftikhar Hussain, MD, Director of Allergy, Asthma, and Immunology Center, PC
Contributor Information and Disclosures

Updated: Aug 3, 2009

Differential Diagnoses

Other Problems to Be Considered

Diagnosis of DiGeorge anomaly is based on the presence of congenital cardiac malformations, hypocalcemia secondary to hypoparathyroidism, and a small or absent thymus. Differential diagnoses include all 22q11 deletion syndromes (see Introduction) and exposure to teratogens during pregnancy, including alcohol, retinoids, bisdiamine, and maternal diabetes.

Conditions related to DiGeorge anomaly include the following:

22q11 deletion syndromes
Velocardiofacial syndrome (VCFS or Shprintzen syndrome)
Conotruncal anomaly face syndrome
Cayler syndrome
Opitz-GBBB syndrome
CHARGE syndrome (coloboma [eye], heart anomaly, atresia [choanal], retardation [mental and growth], genital anomaly, ear anomaly)

Workup

Laboratory Studies

  • Diagnosis
    • As aforementioned, most patients with the clinical phenotype of either of the 22q11.2 deletion syndromes have a hemizygous deletion of chromosome 22q11.2. This deletion can usually be detected in 2-3 days by fluorescent in situ hybridization (FISH).
    • Other means of diagnosis are being evaluated, including a rapid polymerase chain reaction (PCR)–based method.
    • When clinical features are present, but the 22q11.2 deletion is not, other possible explanations may exist, including TBX1 mutation, chromosome 10 deletion, mutation in the chromodomain helicase DNA-binding protein-7 (CHD7) gene, and prenatal exposure to isotretinoins or elevated blood glucose levels.21
    • Choosing who to screen poses a difficult clinical dilemma. Some patient characteristics, including neonatal hypocalcemia (74%), interrupted aortic arch (50-60%), velopharyngeal insufficiency (64%), and pulmonary atresia (33-45%) appear to be fairly good predictors of deletion, while others, eg, any cardiac lesion (1%), schizophrenia (0-6%), and tetralogy of Fallot (11-17%), do not. 
  • Assessment of immune system
    • In vitro studies of T-cell function offer the most reliable estimate of the extent of immunodeficiency. Although a finding of very low to absent T cells in peripheral blood suggests severe immunodeficiency, decisions regarding treatment should be based on T-cell proliferative responses to antigens, not on the number of T cells.
    • Flow cytometry is performed in vitro to estimate the number of T cells in peripheral blood and the proliferative responses to mitogens and antigens.
    • Advances in multicolor flow cytometry, noninvasive imaging techniques, and molecular assessments of thymic function have enabled a more comprehensive characterization of human thymic output in clinical settings than in the past. These techniques have been particularly valuable in monitoring human T cells after therapeutic thymic grafting for complete DiGeorge anomaly.
    • At times, a sudden increase in CD3+/CD4+ T cells is observed in patients with DiGeorge anomaly and is associated with modest mitogen response but no proliferative response to antigens. Response to antigens is the best predictor of the ability of the T cells to protect from infection and is the most clinically relevant of the in vitro tests of T-cell function.
    • Evaluation of humoral immunity reveals variable immunoglobulin levels and depends on the extent of T-cell deficiency. As would be expected (ie, because normal B-cell development requires normal T-cell function), the B-cell repertoire is normal in patients whose only measurable T-cell defect is a low number. Patients with partial DiGeorge anomaly generate good antibody response to protein vaccines, but no data are available on polysaccharide vaccines. Increased prevalence of immunoglobulin A deficiency has been observed in 4 of 32 patients with 22q11.2 deletion.
    • T-cell receptor excision circles (TRECs) and quantitative, real-time reverse transcriptase (RT) PCR: The thymus is crucial in reconstituting the T-cell compartment following lymphodepletion and also in establishing a normal, diverse T-cell receptor (TCR) repertoire after immune response to antigens. TCR alpha beta diversity is generated through rearrangements of the TCR alpha and TCR beta chain genes. The TCR delta chain locus lies within the TCR alpha chain locus, and its excision is the first step in TCR alpha chain gene rearrangement. The intervening excised DNA is circularized by the formation of a "signal joint" forming a DNA episome, termed a signal-joint T-cell receptor excision circle (sjTREC)

      Approximately 70% of T cells emerging from the thymus contain 1-2 sjTRECs, depending on whether one or both TCR alpha loci genes are rearranged. As these long-lived naive T cells mature and proliferate, their sjTRECs are stable and do not divide. The thymus contributes naive T (CD45RA+) cells with TRECs to the peripheral immune system, but memory T cells (CD45RO+) contain few, if any, detectable TRECs. Quantification of thymic function is clinically relevant in settings with immunodeficiencies, after transplantation, and in patients with autoimmune disease. In humans, no specific phenotypic marker exists for recent thymic emigrants; therefore, the use of real-time quantitative RT PCR methods for absolute TREC quantification provides a novel tool for estimating recent thymic function in different clinical situations, including in patients with DiGeorge anomaly and those undergoing thymic transplantation.
  • Assessment of parathyroid function
    • The etiology of hypocalcemia is usually evident with low parathyroid hormone (PTH) levels.
    • Latent or subclinical hypoparathyroidism can be unmasked by performing a disodium edetate challenge.
    • Despite occasional normal calcium and PTH levels, the secretory reserve for PTH is usually diminished in patients with DiGeorge anomaly.

Imaging Studies

  • A lateral-view chest radiograph is useful in assessing the thymic shadow.
  • Although chest radiographs may reveal an absence of a thymus shadow, MRI is more reliable for estimating mediastinal thymus size. However, because the thymus has not descended into the mediastinum in this condition, imaging studies are not warranted.
  • The range of cardiovascular anomalies is wide, although conotruncal defects are the most frequent ones. Slight variations in defect might dictate a different surgical intervention, thus 2-dimensional and color-Doppler echocardiography is essential to define the anatomy; additionally, the thymus might be visualized in this way.  Additionally, cardiac catheterization may not be needed but can provide helpful information in some situations.

Other Tests

  • Genetic studies include the fluorescent in situ hybridization (FISH) technique for karyotyping, which is sensitive and readily available for chromosome analysis. A multiplex ligation-dependent probe amplification (MLPA) single tube assay was recently developed to detect deletions of the 22q11.2 region and other chromosomal regions associated with DiGeorge anomaly and velocardiofacial syndrome (VCFS). This method appears to be equivalent to the FISH technique.
  • Hearing, vision, and speech issues are typically addressed during infancy; thus, appropriate screening measures to pick up deficits in these areas is a key component to the multidisciplinary care DiGeorge anomaly patients.

Procedures

  • Diagnosis of cardiac abnormalities usually requires 2D-Doppler and may require invasive techniques, including cardiac catheterization.

Histologic Findings

  • Thymic biopsy findings are essentially normal, except for evidence of hypoplasia.
  • A study examining the skin biopsies of a small subset of complete DiGeorge anomaly patients known as "atypical complete" DiGeorge anomaly (clinically marked by eczematous dermatitis, oligoclonal T-cells, and lymphadenopathy) revealed exocytosis, parakeratosis, often confluent, and spongiosis in 100% of the biopsies taken.22  
    • Furthermore, neutrophilic abscesses (50%), dyskeratosis (67%), satellite cell necrosis (50%), and perieccrine and perivascular inflammation were seen in half of the cases. Eosinophils, most commonly in both the epidermis and dermis, were also identified in 83% of the biopsies. All of the lymphocytes were CD3 positive. Most (83%) of cases contained T-cell intracellular antigen 1 (TIA-1) positive cells, and spectratyping of the selected patients identified oligoclonal T-cell populations.
    • The authors concluded that the presence of dyskeratotic keratinocytes, satellite cell necrosis, and parakeratotic scale with neutrophils characterizes the cutaneous rash seen in this subset of complete DiGeorge syndrome patients. Thus, such lesions in patients with DiGeorge anomaly should alert the pathologist to the possible diagnosis of "atypical complete" DiGeorge anomaly.22

More on DiGeorge Syndrome

Overview: DiGeorge Syndrome
Differential Diagnoses & Workup: DiGeorge Syndrome
Treatment & Medication: DiGeorge Syndrome
Follow-up: DiGeorge Syndrome
References
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References

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Further Reading

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Keywords

DiGeorge syndrome, DiGeorge anomaly, DGA, thymic hypoplasia, thymic aplasia, third and fourth pouch syndrome, third and fourth arch syndrome, cellular immunodeficiency, hypoparathyroidism, 22q11 deletion syndromes, 22q11.2 deletion syndromes, 22q11DS, CH22qD syndrome, velocardiofacial syndrome, VCFS, Shprintzen syndrome, conotruncal anomaly face syndrome, Cayler syndrome, Opitz-GBBB syndrome, CHARGE syndrome, coloboma, heart anomalies, atresia of choanae, choanal atresia, retardation, genital hypoplasia, ear anomalies, hypocalcemia, fetal alcohol syndrome, FAS, FISH, FISH technique, fluorescent in situ hybridization, multiplex ligation-dependent probe amplification, MLPA

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Contributor Information and Disclosures

Author

Patrick Htain Win, MD, President/Director, Allergy, Asthma and Immunology Center, SC
Patrick Htain Win, MD is a member of the following medical societies: American Academy of Allergy Asthma and Immunology, American Association of Immunologists, American College of Allergy, Asthma and Immunology, and Joint Council of Allergy, Asthma and Immunology
Disclosure: Nothing to disclose.

Coauthor(s)

Sridhar Guduri, MD, Consulting Staff, Allergy and Asthma Clinics of Ohio
Sridhar Guduri, MD is a member of the following medical societies: American Academy of Allergy Asthma and Immunology and American College of Allergy, Asthma and Immunology
Disclosure: Nothing to disclose.

Iftikhar Hussain, MD, Director of Allergy, Asthma, and Immunology Center, PC
Iftikhar Hussain, MD is a member of the following medical societies: American Academy of Allergy Asthma and Immunology, American College of Allergy, Asthma and Immunology, American College of Physicians, American Thoracic Society, and Association of Clinical Research Professionals
Disclosure: Nothing to disclose.

Medical Editor

Charles H Kirkpatrick, MD, Professor of Medicine and Immunology, University of Colorado School of Medicine; Director of Adult Immune Deficiency Program, Department of Medicine, University of Colorado Health Sciences Center; Consulting Staff, Department of Medicine, National Jewish Medical and Research Center
Charles H Kirkpatrick, MD is a member of the following medical societies: American Academy of Allergy Asthma and Immunology, American Association of Immunologists, American College of Physicians, American Federation for Clinical Research, American Society for Clinical Investigation, and Clinical Immunology Society
Disclosure: Lev Pharmaceuticals Consulting fee Consulting

Pharmacy Editor

Francisco Talavera, PharmD, PhD, Senior Pharmacy Editor, eMedicine
Disclosure: eMedicine Salary Employment

Managing Editor

Samuel R Marney, Jr, MD, Director, Associate Professor, Department of Internal Medicine, Division of Allergy and Immunology, Vanderbilt University School of Medicine
Samuel R Marney, Jr, MD is a member of the following medical societies: American Academy of Allergy Asthma and Immunology, American College of Allergy, Asthma and Immunology, American College of Physicians, and Tennessee Medical Association
Disclosure: Nothing to disclose.

CME Editor

Timothy D Rice, MD, Associate Professor, Departments of Internal Medicine and Pediatrics and Adolescent Medicine, Saint Louis University School of Medicine
Timothy D Rice, MD is a member of the following medical societies: American Academy of Pediatrics and American College of Physicians
Disclosure: Nothing to disclose.

Chief Editor

Michael A Kaliner, MD, Clinical Professor of Medicine, George Washington University School of Medicine; Chief, Section of Allergy and Immunology, Washington Hospital Center; Medical Director, Institute for Asthma and Allergy
Michael A Kaliner, MD is a member of the following medical societies: American Academy of Allergy Asthma and Immunology, American Association of Immunologists, American College of Allergy, Asthma and Immunology, American Society for Clinical Investigation, American Thoracic Society, and Association of American Physicians
Disclosure: Abbott Consulting fee Consulting; Alcon Consulting fee Consulting; Glaxo Consulting fee Consulting; Greer Consulting fee Consulting; Sanofi Consulting fee Consulting; Schering Consulting fee Consulting; Teva  Consulting; Meda Honoraria Speaking and teaching

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