Question 1 · Hard
A 10-month-old girl has had two mild ear infections and is otherwise thriving. Her blood count at 2 months of age was normal. Twice-weekly counts over 6 weeks show an absolute neutrophil count between 0.2 and 0.5 × 10^3/µL [0.2-0.5 × 10^9/L] (reference for age 1.0-8.5 × 10^3/µL), with a mild monocytosis and normal hemoglobin and platelet counts. The marrow is normocellular, with myeloid cells maturing normally through the metamyelocyte stage but few segmented neutrophils, and there is no arrest at the promyelocyte stage. Granulocyte antibody testing detects anti-HNA-1a. The most likely diagnosis is:
- AAutoimmune neutropenia of infancy
- BCyclic neutropenia
- CAlloimmune neonatal neutropenia
- DSevere congenital neutropenia
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Answer: A · Autoimmune neutropenia of infancy
A neutropenia that develops after a normal count in early infancy, with only mild infections, a marrow that lacks mainly the mature segmented cells, and an antibody to a neutrophil-specific antigen (HNA-1a) is primary autoimmune neutropenia of infancy. The child's own antibodies coat mature neutrophils, which are removed in the spleen, while the marrow keeps producing them. It is usually found between about 5 and 15 months of age and resolves on its own in most children within 2 to 3 years. Severe congenital neutropenia starts at birth with serious infections and an arrest at the promyelocyte stage, and cyclic neutropenia returns to normal between nadirs that come about every 21 days. Alloimmune neonatal neutropenia comes from maternal antibody, is present from birth and clears within the first months.
- B: Twice-weekly counts stay low throughout, without the recovery between nadirs seen in cyclic neutropenia.
- C: Alloimmune neutropenia is present from birth and clears early; her count was normal at 2 months.
- D: Severe congenital neutropenia starts at birth with serious infections and a promyelocyte arrest.