Common variable immunodeficiency presenting as sarcoidosis in a 9‐year‐old child

Abstract

Background Granulomatous diseases are a heterogeneous group of conditions characterized by an inflammatory infiltrate with a core of macrophages, epithelioid, giant cells and a corona of fibroblasts and lymphocytes. They are associated with a wide range of disorders such as mycobacterial and fungal infections, neoplasms, immunodeficiencies and systemic inflammatory disorders as sarcoidosis. Case report We report the case of a previously healthy 9‐year‐old male child who presented with persistent cough, diffuse lymphadenopathy, enlargement of liver and spleen and protracted fever. Anemia, lymphopenia and reduced platelet count was reported, with an increase of inflammatory markers. High levels of Angiotensin‐converting enzyme and chitotriosidases were noted. A PET‐CT scan showed increased uptake of 18F‐FDG glucose in multiple lymph nodes in thorax and abdomen and in the spleen. Biopsy of inguinal and bronchial nodes showed nodal granulomatous inflammation. The child was diagnosed with sarcoidosis and treated with corticosteroids with only transient efficacy. Further tests reported panhypogammaglobulinaemia and a reduced pool of B‐memory lymphocytes. Thus, the diagnosis was revised to common variable immunodeficiency (CVID). Conclusion Common variable immunodeficiency is a heterogeneous condition with a highly variable clinical phenotype and a strong association with autoimmune disorders. The presence of noncaseating granuloma and pulmonary lesions, along with extrapulmonary features required a step by step approach to differentiate between CVID and sarcoidosis. This enables early introduction of immunoglobulin replacement therapy and decreases the morbidity and mortality of CVID.

What Works When Treating Granulomatous Disease in Genetically Undefined CVID? A Systematic Review

“…We found several reports with IgRT as, or as part of, therapy for granulomatous disease (36,39,50,51,54,64,(70)(71)(72)(73)(74)(75)(76)(77)(78)102). Since IgRT is the corner stone of treatment in CVID, this treatment regimen is the hardest to judge for being associated with remission of granulomatous disease.…”

“…For CVID+EGD, steroid monotherapy was the most frequently reported regimen (21 of 53 treatment courses), with 85.7% of treatment courses scored as effective ( Table 5) (17,19,20,(25)(26)(27)(28)(29)(30)(31)(32)(33)(34)(35)(36)(37)(38)(39)(40). For CVID+PGD, steroid monotherapy also was the most frequently reported treatment regimen (15 of 64 treatment courses); 66.7% of these treatment courses were associated with remission of granulomatous disease (Table 6) (29,(41)(42)(43)(44)(45)(46)(47)(48)(49)(50). Apart from monotherapy, steroids were frequently prescribed as part of a treatment regimen containing one or more other drugs, both in CVID+EGD and CVID+PGD.…”