BLTP1 and Alkuraya-Kucinskas syndrome: In addition to Alkuraya-Kučinskas syndrome, KIAA1109 has been reported as a significantly associated molecule in several autoimmune disorders including moderate to severe asthma [2], ulcerative colitis and celiac disease [3–5], rheumatoid arthritis [6], psoriatic arthritis [7], type 1 diabetes [8], anterior uveitis [9] and allergic sensitization [10].