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We report outcomes after hematopoietic stem cell transplant for three patients with X-MAID, including 1 patient from the originally described cohort and two brothers with positive TREC newborn screening for SCID who were found to have a T-B-NK+ SCID phenotype attributable to X-linked moesin associated immunodeficiency (X-MAID). A c.511C>T variant in moesin was identified via exome sequencing in the older of these siblings in the setting of low lymphocyte counts and poor proliferative responses consistent with SCID. He received reduced intensity conditioning due to CMV, and was transplanted with a T-depleted haploidentical (maternal) donor. His post-transplant course was complicated by hemolytic anemia, neutropenia, and sepsis. He had poor engraftment, requiring a 2nd transplant. His younger brother presented with the same clinical phenotype and was treated with umbilical cord blood transplant following myeloablative conditioning, has engrafted and is doing well. The third case also presented with severe lymphopenia in infancy, received a matched related bone marrow transplant following myeloablative conditioning, has engrafted and is doing well. These cases represent a novel manifestation of non-radiosensitive X-linked form of T-B-NK+ SCID that is able to be detected by TREC based newborn screening and effectively treated with HCT.

Ataxia-telangiectasia (AT) is a rare autosomal recessive disorder characterized by faulty DNA damage repair. The disease affects multiple systems and is noted to be particularly difficult to diagnose in children because of the wide spectrum of clinical presentations. We present an unusual case of a child in whom the primary cutaneous manifestation of AT was noninfectious cutaneous caseating granulomas. A 3-year-old girl presented to the emergency department with ataxia, poor growth, and multiple ulcerated plaques on both upper extremities that had been present for 2 years. She had two prolonged hospitalizations and underwent extensive examination to identify an etiology for the skin lesions. She was diagnosed with AT after immunology examinaton and genetic testing. Outpatient intravenous immunoglobulin (IVIG) therapy was initiated and she was prescribed twice-daily mometasone 0.01% ointment under occlusion. After 6 weeks on this regimen her lesions had completely healed. Twenty-two cases of AT have been reported in which patients presented with cutaneous granulomas. This report demonstrates the first reported case in which the granulomatous skin lesions of AT healed after aggressive application of topical steroids with concurrent IVIG therapy, without oral steroids. A brief review of cutaneous granulomas in the setting of immunodeficiency is also presented.