T-Cell Disorders Follow-up

  • Author: Robert A Schwartz, MD, MPH; Chief Editor: Harumi Jyonouchi, MD   more...
 
Updated: May 16, 2011
 

Further Inpatient Care

Bronchiolitis caused by respiratory syncytial virus (RSV), adenovirus, parainfluenza, and influenza is more severe and more likely to result in hospitalization. Conventional treatment includes use of oxygen, bronchodilator therapy, and deep suctioning.

Patients with DiGeorge syndrome (DGS) may require hospitalization for cardiac evaluation.

Bleeding diatheses in patients with Wiskott-Aldrich syndrome (WAS) and Chediak-Higashi syndrome (CHS) usually require inpatient treatment.

Bone marrow transplantation and other stem cell reconstitution are performed in specialized hospital units.

Thymus transplantation is a promising investigational therapy for athymic infants.[20]

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Further Outpatient Care

Otitis media, sinusitis, and mucocutaneous candidiasis are common infections that are treated on an outpatient basis. Conventional antibiotics and antifungal agents are administered but may require longer courses.

Treat eczematous rashes with conventional topical corticosteroids and emollients. Topical tacrolimus has recently been shown to be effective in controlling atopic dermatitis.

Neurologic dysfunction can occur in patients with ataxia telangiectasia (AT), CHS, and immune dysfunction/autoimmunity syndromes. Among these dysfunctions are seizure disorders that require anticonvulsant drug administration.

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Inpatient & Outpatient Medications

See Medication.

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Transfer

Treatment in most patients requires a team effort that includes a clinical immunologist and other subspecialists.

Bone marrow transplantation units usually assume the primary care role for patients undergoing stem cell reconstitution.

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Deterrence/Prevention

Currently, mutation analysis is used to identify most infants with and carriers of partial T-cell disorders. Complete a familial mutation analysis in order to offer prenatal diagnosis.

Remarkably, a delayed diagnosis of DiGeorge syndrome may occur in someone aged 70 years or older.[21] It may be not so rare a disorder but simply one that is infrequently unrecognized.[22]

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Complications

Each partial T-cell disorder has specific complications.

While patients with DGS are most likely to have fewer complications at an older age, the risk for malignancy increases with age in patients with WAS and AT.

Patients with AT and CHS develop progressive neurologic dysfunction as they age.

Insulin-dependent diabetes mellitus (IDDM), enteropathy, or pulmonary disorders can be fatal in many patients with dysregulation/autoimmunity syndromes as patient's age.

Splenectomy can be clinically effective in patients with WAS and Fas or Fas ligand deficiencies over the short term, but fatal sepsis is unpredictable.

Female carriers of AT have increased risk for breast cancer.

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Prognosis

Outcome in patients with partial T-cell deficiencies have improved with better supportive care and improved techniques for bone marrow transplantation. For example, the mean age of survival has increased in patients with WAS. Although stem cell reconstitution offers the possibility of complete cure, control of infections and bleeding increased the mean age of survival from early childhood (in the 1970s) to the third decade of life (in the 1990s).

Longer survival in patients with AT and CHS is compromised by progressive neurologic deterioration. In patients with CHS, the rates of deafness and blindness are high. In both disorders, patients often become confined to a wheelchair.

Some children spontaneously correct immunoglobulin abnormalities during the first decade of life, even with a severe primary immunodeficiency.[23] Guidelines for the diagnosis and management of primary immunodeficiency have been established.[5] They may have had a delay in maturation of immunoglobulin synthesis.

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Patient Education

Inform families of patients with partial T-cell disorders regarding the risks of infection so they can institute appropriate steps to avoid exposure to infection. Inform families that bacille Calmette-Guérin vaccine (BCG) and live poliovirus vaccine are contraindicated.

Genetic counseling is an essential part of medical care for the family. Parents must be informed of the 25% risk that an affected infant will be born to parents each carrying autosomal recessive gene mutations and the 50% risk that an affected male infant will be born to mothers carrying X-linked mutations.

Adequate informed consent for stem cell reconstitution must review (1) the high risk for life-threatening infection during the immunosuppressive regimen used in preparation for stem cell reconstitution, (2) the risk that the graft will fail, and (3) the risk of graft versus host disease (GVHD). Although successful complete immune reconstitution from bone marrow transplantation is reported using fully matched related and unrelated donors or haploidentical parents, the graft may fail or patients may develop GVHD posttransplant. Other forms of stem cell reconstitution that can be offered include stem cell transplantation. Gene therapy is expected to become an option.

The following organizations are among those providing educational services and support for families:

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Contributor Information and Disclosures
Author

Robert A Schwartz, MD, MPH  Professor and Head, Dermatology, Professor of Pathology, Pediatrics, Medicine, and Preventive Medicine and Community Health, University of Medicine and Dentistry of New Jersey-New Jersey Medical School

Robert A Schwartz, MD, MPH is a member of the following medical societies: Alpha Omega Alpha, American Academy of Dermatology, American College of Physicians, and Sigma Xi

Disclosure: Nothing to disclose.

Coauthor(s)

Robert Y Lin, MD  Professor, Department of Medicine, New York Medical College; Chief, Allergy and Immunology, and Director of Utilization Review, Department Medicine, New York Downtown Hospital

Robert Y Lin, MD is a member of the following medical societies: American Academy of Allergy Asthma and Immunology and American Federation for Medical Research

Disclosure: Nothing to disclose.

Specialty Editor Board

Terry W Chin, MD, PhD  Associate Director, Pediatric Allergy/Immunology/Pulmonology, Miller Children's Hospital, Long Beach Memorial Medical Center; Associate Professor, Department of Pediatrics, University of California, Irvine, School of Medicine

Terry W Chin, MD, PhD 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 College of Chest Physicians, American Thoracic Society, California Thoracic Society, Clinical Immunology Society, and Western Society for Pediatric Research

Disclosure: Nothing to disclose.

Mary L Windle, PharmD  Adjunct Associate Professor, University of Nebraska Medical Center College of Pharmacy; Editor-in-Chief, Medscape Drug Reference

Disclosure: Nothing to disclose.

David J Valacer, MD  Consulting Staff, Hoffman La Roche Pharmaceuticals

David J Valacer, MD is a member of the following medical societies: American Academy of Allergy Asthma and Immunology, American Academy of Pediatrics, American Association for the Advancement of Science, American Thoracic Society, and New York Academy of Sciences

Disclosure: Nothing to disclose.

David Pallares, MD  Clinical Assistant Professor, Department of Pediatrics, Division of Allergy and Immunology, University of Louisville

David Pallares, MD is a member of the following medical societies: American Academy of Allergy Asthma and Immunology

Disclosure: Nothing to disclose.

Chief Editor

Harumi Jyonouchi, MD  Associate Professor, Division of Pulmonary Allergy/Immunology and Infectious Diseases, Department of Pediatrics, UMDNJ-New Jersey Medical School

Harumi Jyonouchi, MD is a member of the following medical societies: American Academy of Allergy Asthma and Immunology, American Academy of Pediatrics, American Association of Immunologists, American Medical Association, Clinical Immunology Society, New York Academy of Sciences, Society for Experimental Biology and Medicine, Society for Mucosal Immunology, and Society for Pediatric Research

Disclosure: Nothing to disclose.

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This patient was diagnosed with ataxia telangiectasia (AT) when she presented at age 6 years. The family was concerned about the increased frequency of sinusitis during the past winter, and she was noted to have poor balance. Findings in her eyes had been explained as conjunctivitis since age 4 years.
A prominent site for telangiectasia in classic ataxia telangiectasia is the pinna.
Malformation of the pinna
Giant lysosomes.
Table. Immune Globulin, Intravenous[16, 17, 18, 19]
Brand(Manufacturer)Manufacturing ProcesspHAdditives (IVIG products containing sucrose are more often associated with renal dysfunction, acute renal failure, and osmotic nephrosis, particularly with preexisting risk factors [eg, history of renal insufficiency, diabetes mellitus, age >65 y, dehydration, sepsis, paraproteinemia, nephrotoxic drugs].) Parenteral Form and Final ConcentrationsIgA Content mcg/mL
Carimune NF



(CSL Behring)



Kistler-Nitschmann fractionation; pH 4 nanofiltration6.4-6.86% solution: 10% sucrose, < 20 mg NaCl/g proteinLyophilized powder 3%, 6%, 9%, 12%720
Flebogamma



(Grifols USA)



Cohn-Oncley fractionation, PEG precipitation, ion-exchange chromatography, pasteurization5.1-6Sucrose free, contains 5% D-sorbitolLiquid 5%< 50
Gammagard Liquid 10%



(Baxter Bioscience)



Cohn-Oncley cold ethanol fractionation, cation and anion exchange chromatography, solvent detergent treated, nanofiltration, low pH incubation 4.6-5.10.25M glycineReady-for-use liquid 10%37
Gamunex



(Talecris Biotherapeutics)



Cohn-Oncley fractionation, caprylate-chromatography purification, cloth and depth filtration, low pH incubation4-4.5Does not contain carbohydrate stabilizers (eg, sucrose, maltose), contains glycineLiquid 10%46
Iveegam EN



(Baxter Bioscience)



Cohn-Oncley fraction II/III; ultrafiltration; pasteurization6.4-7.25% solution: 5% glucose, 0.3% NaClLyophilized powder 5%< 10
Polygam S/D



Gammagard S/D



(Baxter Bioscience for the American Red Cross)



Cohn-Oncley cold ethanol fractionation, followed by ultracentrafiltration and ion exchange chromatography; solvent detergent treated 6.4-7.25% solution: 0.3% albumin, 2.25% glycine, 2% glucoseLyophilized powder 5%, 10%< 1.6 (5% solution)
Octagam



(Octapharma USA)



9/24/10: Withdrawn from market because of unexplained reports of thromboembolic events



Cohn-Oncley fraction II/III; ultrafiltration; low pH incubation; S/D treatment pasteurization5.1-610% maltoseLiquid 5%200
Panglobulin



(Swiss Red Cross for the American Red Cross)



Kistler-Nitschmann fractionation; pH 4 incubation; trace pepsin; nanofiltration6.6Per gram of IgG: 1.67 g sucrose, < 20 mg NaClLyophilized powder 3%, 6%, 9%, 12%720
Privigen Liquid 10%



(CSL Behring)



Cold ethanol fractionation, octanoic acid fractionation, and anion exchange chromatography; pH 4 incubation and depth filtration4.6-5L-proline (~250 mmol/L) as stabilizer; trace sodium; does not contain carbohydrate stabilizers (eg, sucrose, maltose)Ready-for use liquid 10%< 25
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