Multiple Intestinal Atresia Syndrome (MIA) has been associated with primary immunodeficiency. Six patients have been described. We report two unrelated patients who had MIA with immunodeficiency.

Chart and literature review.

Case 1: The patient was evaluated at four months of age for small bowel transplant (SBT). Imunologic evaluation showed an absolute lymphocyte count (ALC) of 3400, with 1246 T-cells and severe CD 8+ lymphopenia with 24 cells. Hypogammaglobulinemia was present with an IgG of 46, IgA <7 and IgM 18. Adenosine deaminase (ADA) was normal. Mitogen responses of T-cells was also normal. The patient died of presumed severe acute graft versus host disease after SBT. Case 2: The patient was evaluated at 10 weeks of age for possible SBT. Immunologic evaluation showed an ALC of 1170-1600 with 500-600 T-cells and severe CD 8+ lymphopenia of 22-34. Hypogammaglobulinemia was present with IgG 68, IgA <7, and IgM 4. ADA was normal as was response to T-cell mitogens with a supernormal response to Pokeweed Mitogen. In addition, T-cell proliferation to anti-CD3 was normal. He was treated with intravenous immunoglobulin. He has since experienced staphylococcal and fungal sepsis and recovered without complications. He is being considered for SBT in the future.

MIA has been found in association with severe primary immunodeficiency. We report two cases with panhypogammaglobulinemia and CD 8+ lymphopenia but normal t-cell function. All reported cases have had early death due to GVHD or sepsis.