[Hematopoietic stem cells transplant in patients with common variable immunodeficiency. Is a therapeutic option?]

Rev Alerg Mex. Jan-Mar 2017;64(1):121-125. doi: 10.29262/ram.v64i1.169.
[Article in Spanish]

Abstract

Background: Patients with common variable immunodeficiency show higher incidence of sinopulmonary and gastrointestinal infections, as well as lymphoproliferative and autoimmune diseases. The treatment of choice is replacement therapy with human gamma-globulin. Hematopoietic stem cell transplantation is a non-conventional therapeutic modality.

Case report: Twenty-six-year old woman with no family or hereditary history of primary immune deficiencies or consanguinity, with repeated episodes of otitis, sinusitis, gastroenteritis and bronchitis since childhood. At adolescence, she was diagnosed with common variable immunodeficiency; she was prescribed intravenous gamma-globulin, broad-spectrum antimicrobials and macrolides. At 22 years of age, she underwent hematopoietic stem cell transplantation owing to continued severe infections. At 4 months, post-transplantation she was diagnosed with hypothyroidism and ovarian insufficiency. During the following 3 years, she had no infections, but at 25 years of age she had immune thrombocytopenic purpura diagnosed, which persists together with Raynaud's disease and upper respiratory tract persistent infections. At the moment of this report she is being treated with intravenous gamma-globulin and receiving prophylaxis with clarithromycin, without steroids or danazol.

Conclusions: Given the high rate of morbidity and mortality associated and immune reconstitution failure, hematopoietic stem cell transplantation should be carefully evaluated in patients with treatment-unresponsive infections or lymphoproliferative disorders.

Antecedentes: Los pacientes con inmunodeficiencia común variable presentan mayor incidencia de infecciones sinopulmonares y gastrointestinales, así como de enfermedades linfoproliferativas y autoinmunes. El tratamiento de elección es el reemplazo con gammaglobulina humana. El trasplante de células progenitoras hematopoyéticas es una modalidad terapéutica no convencional. Caso clínico: Mujer de 26 años de edad sin antecedentes heredofamiliares de inmunodeficiencias primarias ni consanguinidad, con procesos repetidos de otitis, sinusitis, gastroenteritis y bronquitis desde la infancia. En la adolescencia fue diagnosticada con inmunodeficiencia común variable; se le prescribió gammaglobulina intravenosa, antimicrobianos de amplio espectro y macrólidos. A los 22 años se le realizó trasplante de células progenitoras hematopoyéticas por continuar con infecciones severas. A los 4 meses del trasplante se le diagnosticó hipotiroidismo e insuficiencia ovárica. Durante los siguientes 3 años no presentó infecciones, pero a los 25 años manifestó púrpura trombocitopénica inmune, que persistía al momento de este informe con enfermedad de Raynaud e infecciones reincidentes de vías respiratorias altas. Es tratada con gammaglobulina intravenosa y profilaxis con claritromicina, sin esteroides ni danazol. Conclusiones: Dada la alta tasa de morbimortalidad asociada y falla en la reconstitución inmunológica, el trasplante de células progenitoras hematopoyéticas deberá ser cuidadosamente evaluado en pacientes con infecciones sin respuesta al tratamiento o con enfermedades linfoproliferativas.

Keywords: Common variable immunodeficiency; Hematopoietic progenitor cell transplant; Human gamma globulin.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Anti-Bacterial Agents / therapeutic use
  • Bronchiectasis / etiology
  • Combined Modality Therapy
  • Common Variable Immunodeficiency / therapy*
  • Female
  • Follow-Up Studies
  • Hashimoto Disease / etiology
  • Hematopoietic Stem Cell Transplantation*
  • Humans
  • Immunoglobulins, Intravenous / therapeutic use
  • Primary Ovarian Insufficiency / chemically induced
  • Purpura, Thrombocytopenic, Idiopathic / etiology
  • Raynaud Disease / etiology
  • Recurrence
  • Respiratory Tract Infections / etiology
  • Thyroiditis, Autoimmune / etiology

Substances

  • Anti-Bacterial Agents
  • Immunoglobulins, Intravenous

Supplementary concepts

  • Hypothyroidism, Autoimmune