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B-Cell and T-Cell Combined Disorders: Treatment & Medication
Updated: Nov 12, 2009
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Treatment
Medical Care
As with other immunodeficiencies, aggressive antibiotic administration and supportive care may prolong the patient's survival, though no current therapy cures ataxia-telangiectasia (AT). Careful observation for the early development of AT is indicated because patients with T-cell deficiency have an increased susceptibility to develop malignancies. Likewise, regular determination of serum autoantibody level and constant clinical evaluation for endocrinopathy (eg, hypoparathyroidism, hypoadrenalism, diabetes) is needed in patients with chronic mucocutaneous candidiasis (CMC).
- Unlike other combined immunodeficiency syndromes, AT and CMC do not generally warrant gamma-globulin replacement therapy because of the marked variation in humoral immunodeficiency with the concomitant variable susceptibility to infections. On the other hand, an individual patient may benefit from such treatment. If a trial of intravenous immunoglobulin (IVIG) is considered in these patients, the dosage is 400-600 mg/kg every 2-4 weeks for 6 months. A high dosage is indicated in those with bronchiectasis. Monitor the patient's clinical response rather than specific serum immunoglobulin G (IgG) levels.
- Bone marrow transplantation is difficult to justify because of potential adverse effects of cellular radiosensitivity in patients with AT. Transplantation is also unlikely to alter the progressive neurologic symptoms of the disease. The present authors know of no report of successful bone marrow transplantation in a patient with CMC.
- Use of thymic hormones (eg, thymosin) offers promise, but, to the author's knowledge, no clinical studies have been conducted.
- Irradiation of cellular blood products is indicated in patients with AT and CMC to prevent transfusion-associated graft versus host disease.
- Treatment of patients with AT who also have malignancies requires extremely careful planning and caution in the use of chemotherapy because of their increased chemosensitivity.
Consultations
- Because patients with AT and Nijmegen breakage syndrome (NBS) have an increased risk of developing malignancy, careful monitoring is required by a hematologist-oncologist. Because patients with CMC may be at risk of developing various endocrinopathies, careful monitoring is required by a endocrinologist. Thymoma may also develop in adulthood. Regular screening by an gastroenterologist has been suggested for patients with CMC with a history of recurrent candidal esophagus or a family history positive for esophageal or oral carcinoma.
- Primary care physicians who are less experienced in interpreting results of immune function tests should refer patients to an immunologist.
- Refer parents of children with AT and CMC to a genetic counselor because they are at risk for affected additional offspring.
Diet
- The poor growth in patients with AT and NBS has not been shown to respond to nutritional intervention.
Activity
- Because of the increased sensitivity to radiation in patients with AT or NBS, advise these patients to avoid excessive sun exposure and to use sunscreens when outdoors.
- The typical patient with AT usually requires a wheelchair for mobility by early teenage years.
- For patients with CMC, good oral hygiene and aggressive treatment of oral and esophageal candidiasis are needed.
- Avoidance of additional risk factors for oral and esophageal cancer such as cigarette smoking and excessive alcohol consumption may also be warranted.
Medication
Unlike in other combined immunodeficiency syndromes, gamma-globulin replacement therapy does not appear to be beneficial in patients with ataxia-telangiectasia (AT) because of marked variation of humoral immunodeficiency with concomitant variable susceptibility to infections; however, individual patients may benefit. A study by Claret Teruel et al indicated that 7 out of 12 patients with AT received gamma-globulin due to immunoglobulin G (IgG) deficiency. Similarly, Kalfa et al described 9 patients with chronic mucocutaneous candidiasis (CMC) with selective antibody deficiency.13 All 9 had IgG2 deficiency with IgG4 deficiency in 8 patients and immunoglobulin A (IgA) deficiency in 3 patients. All 9 had recurrent severe lung infections and may have benefited from intravenous immunoglobulin (IVIG) therapy.
Replacement therapy using IVIG in patients with primary immunodeficiencies
Overall consensus among clinical immunologists is that an IVIG dose of 400-600 mg/kg/mo or a dose that maintains trough serum IgG levels at greater than 500 mg/dL is desirable. Patients (X-linked agammaglobulinemia) with meningoencephalitis require much higher doses (1 g/kg) and, perhaps, intrathecal therapy. Measurements of preinfusion (trough) serum IgG levels every 3 months until a steady state is achieved and then every 6 months if the patient is stable may be helpful in adjusting the dose of IVIG to achieve adequate serum levels. For persons who have a high catabolism of infused IgG, more frequent infusions (eg, q2-3wk) of smaller doses may maintain the serum level in the reference range. The rate of elimination of IgG may be higher during a period of active infection; measuring serum IgG levels and adjusting to higher dosages or shorter intervals may be required.
For replacement therapy in patients with primary immunodeficiency, all brands of IVIG are probably equivalent, although differences in the viral inactivation processes (eg, solvent-detergent treatment versus pasteurization, liquid versus lyophilized powder) may be noted. The choice of brands may depend on the hospital or home care formulary and local availability and cost. The dose, manufacturer, and lot number should be recorded for each infusion to review for adverse events or other consequences. Recording all side effects that occur during the infusion is crucial.
Monitoring liver and renal function test results periodically, approximately 3-4 times yearly, also is recommended. The Food and Drug Administration (FDA) recommends that for patients at risk for renal failure (eg, patients with preexisting renal insufficiency, diabetes, volume depletion, sepsis, or paraproteinemia; patients aged >65 y; and patients who use nephrotoxic drugs), recommended doses should not be exceeded and infusion rates and concentrations should be the minimum levels that are practicable.
Initial treatment should be administered under close supervision by experienced personnel. The risk of adverse reactions during initial treatments is high, especially in patients with infections and patients who form immune complexes. In patients with active infection, infusion rates may need to be slower and the dose halved (ie, 200-300 mg/kg), with the remaining dose administered the next day to achieve a full dose. Treatment should not be discontinued. After achieving reference range serum IgG levels, adverse reactions are uncommon unless patients have active infections.
With the new generation of IVIG products, adverse effects are much reduced. Adverse effects include tachycardia, chest tightness, back pain, arthralgia, myalgia, hypertension or hypotension, headache, pruritus, rash, and low-grade fever. More serious reactions include dyspnea, nausea, vomiting, circulatory collapse, and loss of consciousness. Patients with more profound immunodeficiency or patients with active infections have more severe reactions.
Anticomplementary activity of IgG aggregates in the IVIG and the formation of immune complexes are thought to be related to adverse reactions. The formation of oligomeric or polymeric IgG complexes that interact with Fc receptors and trigger the release of inflammatory mediators is another cause. Most adverse reactions are rate related. Slowing the infusion rate or discontinuing therapy until symptoms subside may diminish the reaction. Pretreatment with ibuprofen (5-10 mg/kg every 6-8 h), acetaminophen (15 mg/kg/dose), diphenhydramine (1 mg/kg/dose), and/or hydrocortisone (6 mg/kg/dose, maximum 100 mg) 1 hour before infusion may prevent adverse reactions. In some patients with a history of severe adverse effects, analgesics and antihistamines may be repeated.
Acute renal failure is a rare but significant complication of IVIG treatment. Reports suggest that IVIG products using sucrose as a stabilizer may be associated with a greater risk for acute renal failure. Acute tubular necrosis, vacuolar degeneration, and osmotic nephrosis are suggestive of osmotic injury to the proximal renal tubules. The infusion rate for sucrose-containing IVIG should not exceed 3 mg sucrose/kg/min. Risk factors for this adverse reaction include preexisting renal insufficiency, diabetes mellitus, dehydration, age older than 65 years, sepsis, paraproteinemia, and concomitant use of nephrotoxic agents. For patients at increased risk, monitoring blood urea nitrogen and creatinine levels before starting treatment and prior to each infusion is necessary. If renal function deteriorates, discontinue the product.
IgE antibodies to IgA have been reported to cause severe transfusion reactions in patients with IgA deficiency. A few reports exist of true anaphylaxis in patients with selective IgA deficiency and common variable immunodeficiency who developed IgE antibodies to IgA after IVIG treatment. However, in actual experience, this reaction is very rare. In addition, anaphylaxis is not a problem in patients with X-linked agammaglobulinemia (Bruton disease) or severe combined immunodeficiency (SCID). Exercise caution in patients with IgA deficiency (<7 mg/dL) who need IVIG because of IgG-subclass deficiencies. IVIG preparations with very low concentrations of contaminating IgA are advised.
Intravenous Immunoglobulin Therapy
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Table
| Brand(Manufacturer) | Manufacturing Process | pH | Additives* | Parenteral Form and Final Concentrations | IgA Content mcg/mL |
| Carimune NF (ZLB Behring) | Kistler-Nitschmann fractionation, pH 4, nanofiltration | 6.4-6.8 | 6% solution: 10% sucrose, <20 mg NaCl/g protein | Lyophilized powder 3%, 6%, 9%, 12% | Trace |
| Flebogamma (Grifols USA) | Cohn-Oncley fractionation, PEG precipitation, ion-exchange chromatography, pasteurization | 5.1-6 | Sucrose free, contains 5% D-sorbitol | Liquid 5% | <50 |
| Gammagard Liquid 10% (Baxter Bioscience) | Cohn-Oncley cold ethanol fractionation, cation and anion exchange chromatography, solvent detergent treated, nanofiltration, low pH incubation | 4.6-5.1 | 0.25 M glycine | Ready-for-use liquid 10% | 37 |
| Gammar-P IV (ZLB Behring) | Cohn-Oncley fraction II/III, ultrafiltration, pasteurization | 6.4-7.2 | 5% solution: 5% sucrose, 3% albumin, 0.5% NaCl | Lyophilized powder 5% | <20 |
| Gamunex (Talecris Biotherapeutics) | Cohn-Oncley fractionation, caprylate-chromatography purification, cloth and depth filtration, low pH incubation | 4-4.5 | Contains no sugar, contains glycine | Liquid 10% | 46 |
| Iveegam EN (Baxter Bioscience) | Cohn-Oncley fraction II/III, ultrafiltration, pasteurization | 6.4-7.2 | 5% solution: 5% glucose, 0.3% NaCl | Lyophilized powder 5% | <10 |
| Polygam S/D Gammagard S/D (Baxter Bioscience for the American Red Cross) | Cohn-Oncley cold ethanol fractionation, followed by ultra centrafiltration and ion exchange chromatography, solvent detergent treated | 6.4-7.2 | 5% solution: 0.3% albumin, 2.25% glycine, 2% glucose | Lyophilized powder 5%, 10% | <1.6 (5% solution) |
| Octagam (Octapharma USA) | Cohn-Oncley fraction II/III, ultrafiltration, low pH incubation, S/D treatment pasteurization | 5.1-6 | 10% maltose | Liquid 5% | 200 |
| Panglobulin (Swiss Red Cross for the American Red Cross) | Kistler-Nitschmann fractionation, pH 4, trace pepsin, nanofiltration | 6.6 | Per gram of IgG: 1.67 g sucrose, <20 mg NaCl | Lyophilized powder 3%, 6%, 9%, 12% | 720 |
| Brand(Manufacturer) | Manufacturing Process | pH | Additives* | Parenteral Form and Final Concentrations | IgA Content mcg/mL |
| Carimune NF (ZLB Behring) | Kistler-Nitschmann fractionation, pH 4, nanofiltration | 6.4-6.8 | 6% solution: 10% sucrose, <20 mg NaCl/g protein | Lyophilized powder 3%, 6%, 9%, 12% | Trace |
| Flebogamma (Grifols USA) | Cohn-Oncley fractionation, PEG precipitation, ion-exchange chromatography, pasteurization | 5.1-6 | Sucrose free, contains 5% D-sorbitol | Liquid 5% | <50 |
| Gammagard Liquid 10% (Baxter Bioscience) | Cohn-Oncley cold ethanol fractionation, cation and anion exchange chromatography, solvent detergent treated, nanofiltration, low pH incubation | 4.6-5.1 | 0.25 M glycine | Ready-for-use liquid 10% | 37 |
| Gammar-P IV (ZLB Behring) | Cohn-Oncley fraction II/III, ultrafiltration, pasteurization | 6.4-7.2 | 5% solution: 5% sucrose, 3% albumin, 0.5% NaCl | Lyophilized powder 5% | <20 |
| Gamunex (Talecris Biotherapeutics) | Cohn-Oncley fractionation, caprylate-chromatography purification, cloth and depth filtration, low pH incubation | 4-4.5 | Contains no sugar, contains glycine | Liquid 10% | 46 |
| Iveegam EN (Baxter Bioscience) | Cohn-Oncley fraction II/III, ultrafiltration, pasteurization | 6.4-7.2 | 5% solution: 5% glucose, 0.3% NaCl | Lyophilized powder 5% | <10 |
| Polygam S/D Gammagard S/D (Baxter Bioscience for the American Red Cross) | Cohn-Oncley cold ethanol fractionation, followed by ultra centrafiltration and ion exchange chromatography, solvent detergent treated | 6.4-7.2 | 5% solution: 0.3% albumin, 2.25% glycine, 2% glucose | Lyophilized powder 5%, 10% | <1.6 (5% solution) |
| Octagam (Octapharma USA) | Cohn-Oncley fraction II/III, ultrafiltration, low pH incubation, S/D treatment pasteurization | 5.1-6 | 10% maltose | Liquid 5% | 200 |
| Panglobulin (Swiss Red Cross for the American Red Cross) | Kistler-Nitschmann fractionation, pH 4, trace pepsin, nanofiltration | 6.6 | Per gram of IgG: 1.67 g sucrose, <20 mg NaCl | Lyophilized powder 3%, 6%, 9%, 12% | 720 |
*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).
Contents of table are adapted from the following sources:
- Manufacturers' literature.
- Siegel J. The Product: All intravenous immunoglobulins are not equivalent. Pharmacotherapy. 2005; 25(11 Pt 2):78S-84S.
- Shah S. Pharmacy consideration for the use of IGIV therapy. Am J Health-Syst Pharm. 2005; 62(Suppl 3):S5-11.
Although IVIG may improve the ability of some patients to handle infections, aggressive treatment of acute bacterial infections with specific antibiotics remains necessary. In patients with clinically significant T-cell deficiency, prophylaxis may be warranted against Pneumocystis carinii pneumonia, either in the form of oral trimethoprim-sulfamethoxazole (Bactrim or Septra) or pentamidine.
IVIG replacement therapy has not been effective in treating patients with AT and CMC. However, a trial of IVIG may be warranted in other patients with combined B-cell and T-cell deficiency who lack antibody production to specific antigens (eg, tetanus, diphtheria, or polysaccharide antigens to pathogens such as Haemophilus influenzae or Streptococcus pneumoniae).
Several reports describe subcutaneous infusion in children in whom IV access is difficult. Stiehm et al administered dosages of 100 mg/kg/wk (ie, 1 mL/kg of a 10% IV solution) or 250 mg/kg (ie, 2.5 mL/kg) every 3 weeks.14 Recently, the FDA approved a form of immunoglobulin for subcutaneous use. Exercise caution when treating patients with absent IgA serum levels because of the possibility of anaphylaxis. Some researchers urge screening these patients for serum anti-IgA antibody levels; others use Gammagard.
In patients younger than 2 years, use of passive immunization against respiratory syncytial virus (RSV) should be considered. Severe RSV bronchiolitis and pneumonitis may contribute to the development of chronic lung disease.
Antibodies
Prevention of RSV in immunodeficient patients is possible with passive immunization with RSV-specific polyclonal IVIG or humanized mouse monoclonal IgG.
RSV-IVIG (RespiGam)
Polyclonal human immunoglobulin made by selecting donors with high titers of anti-RSV antibody. With monthly infusion, protects high-risk infants against severe RSV disease. In clinical trials, RSV-IVIG reduced hospitalization for non-RSV infections lower respiratory tract and rates of otitis media compared with placebo.
Adult
Pediatric
750 mg/kg IV qmo
Possible interference with immune response to live virus vaccines (eg, measles, mumps, and rubella [MMR], varicella); delay vaccines until 9 mo after last dose
Documented hypersensitivity; cyanotic congenital heart disease
Pregnancy
C - Fetal risk revealed in studies in animals but not established or not studied in humans; may use if benefits outweigh risk to fetus
Precautions
Adverse effects may include fever, headaches, and nausea; see precautions with other IVIG preparations; carefully monitor children susceptible to fluid overload during infusion; monitor for systemic reactions (eg, decreased blood pressure, anaphylaxis) during administration; risk of aseptic meningitis; possible transmission of blood-borne pathogens, though preparation process minimizes risk
Palivizumab (Synagis)
Humanized mouse monoclonal IgG preparation specifically directed toward RSV.
Adult
Pediatric
15 mg/kg IM qmo
None reported
Documented hypersensitivity; cyanotic congenital cardiac disease
Pregnancy
C - Fetal risk revealed in studies in animals but not established or not studied in humans; may use if benefits outweigh risk to fetus
Precautions
Caution in thrombocytopenia or other coagulation disorders
Anti-infective agents
In patients with clinically significant T-cell deficiency, prophylaxis against P carinii pneumonia may be warranted. Prophylaxis may be in the form of oral trimethoprim-sulfamethoxazole (Bactrim or Septra) or pentamidine.
In patients with CMC, topical antifungal therapies are usually not effective. Oral candidiasis can be treated with clotrimazole troches instead of oral nystatin solution. Systemic oral antifungal drugs are occasionally effective and can improve the quality of life for affected patients. However, relapse after cessation of the antifungal therapy is common. Reports described successful treatment with cimetidine and zinc sulphate in patients with CMC.
Trimethoprim-sulfamethoxazole (Bactrim, Septra, Cotrim)
Inhibits bacterial growth by inhibiting synthesis of dihydrofolic acid.
Administration on Mondays, Wednesdays, and Fridays instead of 3 consecutive days also effective. This regimen may be especially necessary if physician must desensitize patient because of drug allergy; spreading dose throughout the week allows for continued attachment of drug to IgE on mast cells without degranulation.
Adult
160 mg trimethoprim/800 mg sulfamethoxazole PO (ie, 1 double-strength [DS] tab) qd or 1 DS tab bid for 3 consecutive days or qod
Pediatric
<2 months: Contraindicated
>2 months: 150 mg/m2/d PO based on trimethoprim component divided bid 3 d/wk; not to exceed 320 mg trimethoprim/d
Alternatively, 5-10 mg/kg/d PO based on trimethoprim component divided bid 3 d/wk
May increase prothrombin time (PT) when used with warfarin (perform coagulation tests and adjust dosage accordingly); coadministration with dapsone may increase blood levels of both; coadministration of diuretics increases incidence of thrombocytopenia purpura in elderly patients; phenytoin levels may increase with coadministration; may potentiate effects of methotrexate in bone marrow depression; hypoglycemic response to sulfonylureas may increase with coadministration; may increase levels of zidovudine
Documented hypersensitivity; megaloblastic anemia due to folate deficiency
Pregnancy
C - Fetal risk revealed in studies in animals but not established or not studied in humans; may use if benefits outweigh risk to fetus
Precautions
Do not use near term in pregnancy (risk of kernicterus); discontinue at first appearance of skin rash or signs of adverse reaction; obtain CBC counts frequently; discontinue if clinically significant hematologic changes occur; goiter, diuresis, and hypoglycemia may occur with sulfonamides; caution in folate deficiency (eg, chronic alcoholism, elderly patients, patients who are receiving anticonvulsant therapy or who have malabsorption syndrome); hemolysis may occur in individuals with G-6-PD deficiency; patients with AIDS may not tolerate or respond; caution in renal or hepatic impairment (perform urinalyses and renal function tests during therapy); give fluids to prevent crystalluria and stone formation
Pentamidine (Pentam-300, Pentacarinat, NebuPent)
Antiprotozoal agent used for prophylaxis and treatment of P carinii infection. Inhibits growth of protozoa by blocking oxidative phosphorylation and inhibiting incorporation of nucleic acids into RNA and DNA, inhibiting protein and phospholipid synthesis.
Adult
300 mg (diluted in 6 mL of water) inhaled qmo administered with Respirgard II nebulizer; data suggest high doses may be used (eg, 200 mg twice per month more effective than once)
Pediatric
IV/IM: 4 mg/kg/dose q2-4wk
Inhalation (>5 y): 300 mg (diluted in 6 mL water) inhaled qmo administered with Respirgard II nebulizer
O'Sullivan and Spaulding (1994) adjust dose in young children on basis of weight and alveolar minute ventilation (VA), as follows: Dose = (2.58 X nebulizer output X weight)/VA, where nebulizer output is usually 6 L/min and estimated VA is 100 mL/kg; therefore, 5-year-old child weighing 20 kg should receive 155 mg using Respirgard II nebulizer
Coadministration with cidofovir increases risk of nephrotoxicity; concomitant use of foscarnet decreases serum calcium level; additive risk of pancreatitis with zalcitabine; coadministration with other drugs that prolong QT interval (eg, dofetilide) increases risk
Documented hypersensitivity
Pregnancy
C - Fetal risk revealed in studies in animals but not established or not studied in humans; may use if benefits outweigh risk to fetus
Precautions
Caution in diabetes mellitus, hypertension or hypotension, hepatic dysfunction, hypoglycemia, leukopenia, and thrombocytopenia
More on B-Cell and T-Cell Combined Disorders |
| Overview: B-Cell and T-Cell Combined Disorders |
| Differential Diagnoses & Workup: B-Cell and T-Cell Combined Disorders |
 Treatment & Medication: B-Cell and T-Cell Combined Disorders |
| Follow-up: B-Cell and T-Cell Combined Disorders |
| Multimedia: B-Cell and T-Cell Combined Disorders |
| References |
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Further Reading
Keywords
B-cell and T-cell combined disorders, B cell, T cell, combined B-cell and T-cell deficiency, ataxia-telangiectasia, AT, chronic mucocutaneous candidiasis, CMC, Nijmegen breakage syndrome, NBS
