T-Cell Disorders Follow-up

Updated: Oct 14, 2021
  • Author: Robert A Schwartz, MD, MPH; Chief Editor: Harumi Jyonouchi, MD  more...
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Follow-up

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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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. [36]

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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. [37] It may be not so rare a disorder but simply one that is infrequently unrecognized. [38]

Adult T-cell leukemia/lymphoma (ATLL), which develops after long-term chronic infection with human T-cell lymphotropic virus type-1 (HTLV-1), has 3 major routes of viral transmission: (1) mother-to-child transmission through breastfeeding; (2) sexual transmission, predominantly from men to women; and (3) cellular blood components. [39] There is no preventive vaccine against HTLV-1 infection, but one should try to interrupt HTLV-1 transmission with prevention. Mother-to-child transmission through the replacement of breastfeeding can have a significant impact.

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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. [40] Guidelines for the diagnosis and management of primary immunodeficiency have been established. [11] They may have had a delay in maturation of immunoglobulin synthesis.

Multivariate analysis of pediatric T-cell lymphoblastic lymphomas showed mutational status of NOTCH1/FBXW7 to be a promising marker for early therapeutic stratification and N/F(mut) to be an independent factor for good prognosis. [41]

Solitary mycosis fungoides appears to have a favorable prognosis. [42] However, long-term follow up is desirable. The peripheral blood CD4:CD8 ratio may be a biomarker for favorable response to radiation treatment. [43]

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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. [26]

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

Immune Deficiency Foundation

40 W Chesapeake Avenue. Suite 308

Towson, MD 21204

Telephone: (800) 296-4433

Email: idf@primaryimmune.org

This organization is an important resource for education and for support for patients and families with any primary immunodeficiency disease. Some states have local chapters.

The Primary Immunodeficiency Resource Center

747 Third Avenue

34th Floor

New York, NY 10017

Telephone: 800-JEFF-844

Email: info@jmfworld.org

This organization provides support and raises funds.

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