gms | German Medical Science

Introduction: Immune Thrombocytopenic Purpura (ITP) is one of the most common causes of low platelets in the pediatric population. Systemic lupus erythematosus (SLE) is an autoimmune multisystemic disorder well known to cause secondary thrombocytopenia. However, hereditary thrombocytopenia is an important differential of low platelets count in children, especially when family history is present.

Methods: Case presentation.

Results: We report a 10-year-old girl not known to have any medical diseases. Presented with a history of recurrent purpura all over the body. Physical examination was unremarkable despite the presence of purpuric and ecchymotic rash. Laboratory studies showed neutropenia, lymphopenia and thrombocytopenia. She was treated initially as a case of ITP. Multiple regimens were given but failed to reach a constant raise of the platelets level. After that, SLE was suspected given the patient’s history of arthralgia and fatigue in association with the presenting symptoms and findings. However, ANA titer and dsDNA were negative. The patient’s history and examination were re-evaluated. A history of thrombocytopenia was noted in the family. Accordingly, a whole exome sequence was sent and revealed a mutation in the NFKB1 gene linked to the diagnosis of Common Variable Immunodeficiency (CVID-12).

Conclusion: CVID is a common primary B cell immunodeficiency with multisystem involvement. It is usually manifested in adolescence and early adulthood. Autoimmune disorders were reported in nearly two-thirds of CVID patients [1]. Autoimmune hemolytic anemia (AIHA) and ITP are the most common conditions, which have led to the diagnosis of CVID in about half of the cases in a retrospective chart review of over 300 cases [2]. In conclusion, Immune dysregulation disorders should be suspected in patients with chronic thrombocytopenia and other abnormality in the blood film, especially if a family history of a similar presentation was noted despite the absence of recurrent infections that is typical for immunodeficient patients.