X-linked Immunodeficiency With Hyper IgM Follow-up

Updated: Oct 05, 2016
  • Author: C Lucy Park, MD; Chief Editor: Harumi Jyonouchi, MD  more...
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Follow-up

Further Outpatient Care

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  • Monitor patients who are stable every 2-3 months. More frequent observation is appropriate for patients with intercurrent infection or complications such as autoimmune disorders or viral hepatitis.
  • Empirical antibiotic therapy should be avoided as much as possible. Make every effort to obtain samples for pathogen identification and use specific antimicrobial agents.
  • P carinii (PCP) prophylaxis should be started as soon as diagnosis is established.
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Further Inpatient Care

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  • Inpatient care may be necessary for any serious clinical conditions associated with X-linked immunodeficiency with hyper–immunoglobulin M (XHIGM). Hospitalization due to severe infection is uncommon once intravenous immunoglobulin (IVIG) therapy is started. IVIG can be administered in outpatient clinics or at home to minimize interruptions of normal living.
  • Bone marrow transplantation (BMT) may be considered in young patients without bronchiectasis or severe chronic infections who have an human leukocyte antigen (HLA)-matched sibling donor. Cord blood stem cells (fully or partially matched) or bone marrow from an unrelated matched donor may be considered if a matched sibling donor is not available.
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Inpatient & Outpatient Medications

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  • See Medical Care.
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Transfer

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  • Patients should be transferred to a tertiary care medical facility where experienced clinical immunologists are available for close follow-up.
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Deterrence/Prevention

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  • PCP prophylaxis using antibiotics such as trimethoprim-sulfamethoxazole must be started as soon as the diagnosis is established.
  • Patients with XHIGM should not receive live virus vaccines (eg, mumps-measles-rubella [MMR], varicella, or oral polio vaccine) because, although the possibility is remote, the patient may develop infection with the vaccine-strain viruses.
  • Because exposure to Cryptosporidium may cause severe GI symptoms and chronic liver disease, reducing the possibility of drinking contaminated water is important. The family should contact the local water supplier and ask if the water is tested for Cryptosporidium.
  • Prenatal diagnosis is possible once the gene mutation of the index case is identified. Polymerase chain reaction–single strand conformational polymorphism (PCR-SSCP) screening of genomic DNA may be used to make prenatal diagnosis. Because patients with XHIGM develop infections, including life-threatening PCP, in the first few years of life, early institution of IVIG and PCP prophylaxis significantly reduces morbidity and mortality.
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Complications

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  • Bronchiectasis is common in patients who experience recurrent episodes of pneumonia. Bacterial pneumonia is mostly preventable using regular IVIG replacement therapy.
  • Liver cirrhosis secondary to hepatitis and cholangitis and eventual liver failure may be fatal. Adenocarcinomas of the liver, biliary tract, and other parts of the GI system are another complication of chronic GI disease.
  • Progressive meningoencephalitis due to enteroviruses has been reported. Degenerative encephalopathy without identifiable infectious etiology has been described. Unfortunately, even very high doses of IVIG did not prevent progression of neurological deterioration.
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Prognosis

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  • Prognosis is guarded, even with aggressive IVIG therapy and PCP prophylaxis.
  • A retrospective study by the Registry of the European Society for Immune Deficiency of 56 affected males revealed a 20% survival rate in persons aged 25 years or older. The US XHIGM Registry reported that 11 of 61 surviving patients were aged 20 years or older.
  • A number of patients received BMT or cord blood stem cell transplantation, with variable outcomes. Better outcomes are associated with BMT from an HLA-matched sibling. Successful treatment of a patient with XHIGM using liver transplantation followed by BMT from an HLA-matched, unrelated donor has been reported.
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Patient Education

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  • Some US states have local chapters of Immune Deficiency Foundation. The Immune Deficiency Foundation
  • 25 W Chesapeake Ave, Suite 206
  • Towson, MD 21204
  • Consultation calls: 1-877-666-0866
  • The Jeffrey Modell Foundation also provides educational support and raises funds for research. The Jeffrey Modell Foundation
  • 747 3rd Avenue
  • New York, NY 10017
  • Phone: 1-800-JEFF-844
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