Combined IL-12 receptor and IgA deficiency in an adult man intestinally infested by an unknown, non-cultivable mycobacterium
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Combined IL-12 receptor and IgA deficiency in an adult man intestinally infested by an unknown, non-cultivable mycobacterium. / Schejbel, L; Rasmussen, E M; Kemp, Helle Bruunsgaard; Lundstedt, A-C; Obel, N; Marquart, Hanne Vibeke Hansen; Andersen, A B.
I: Scandinavian Journal of Immunology, Bind 74, Nr. 6, 2011, s. 548-53.Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Forskning › fagfællebedømt
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T1 - Combined IL-12 receptor and IgA deficiency in an adult man intestinally infested by an unknown, non-cultivable mycobacterium
AU - Schejbel, L
AU - Rasmussen, E M
AU - Kemp, Helle Bruunsgaard
AU - Lundstedt, A-C
AU - Obel, N
AU - Marquart, Hanne Vibeke Hansen
AU - Andersen, A B
N1 - © 2011 The Authors. Scandinavian Journal of Immunology © 2011 Blackwell Publishing Ltd.
PY - 2011
Y1 - 2011
N2 - Interleukin-12 receptor deficiency is a well-described cause of human susceptibility to infection with low-virulent mycobacteria and Salmonella species. We identified a male patient presenting in his late forties with severe gastroenteropathy because of outbred infestation by a previously unknown mycobacterium. In addition to selective IgA deficiency, the patient was found to carry a not previously described R283X homozygous mutation in his IL12R¿1 gene. Two of his sisters, a brother, and his four children were healthy, heterozygous carriers of the mutation. In this patient, the combination of two deficiencies could promote illness. Even though the IgA deficiency in itself does not predispose to mycobacterial disease, the lack of secreted IgA may have disturbed the intestinal homoeostasis and increased the susceptibility to the low-virulent mycobacterium that the patient was not able to clear because of his IL12R deficiency. Antimycobacterial chemotherapy and interferon-¿ treatment for 2 years significantly improved his condition. This is the first description of IL12R¿1 deficiency combined with another immunodeficiency, and we suggest that combinatory defects may circumvent the otherwise low penetrance of IL12RB1 deficiency.
AB - Interleukin-12 receptor deficiency is a well-described cause of human susceptibility to infection with low-virulent mycobacteria and Salmonella species. We identified a male patient presenting in his late forties with severe gastroenteropathy because of outbred infestation by a previously unknown mycobacterium. In addition to selective IgA deficiency, the patient was found to carry a not previously described R283X homozygous mutation in his IL12R¿1 gene. Two of his sisters, a brother, and his four children were healthy, heterozygous carriers of the mutation. In this patient, the combination of two deficiencies could promote illness. Even though the IgA deficiency in itself does not predispose to mycobacterial disease, the lack of secreted IgA may have disturbed the intestinal homoeostasis and increased the susceptibility to the low-virulent mycobacterium that the patient was not able to clear because of his IL12R deficiency. Antimycobacterial chemotherapy and interferon-¿ treatment for 2 years significantly improved his condition. This is the first description of IL12R¿1 deficiency combined with another immunodeficiency, and we suggest that combinatory defects may circumvent the otherwise low penetrance of IL12RB1 deficiency.
U2 - 10.1111/j.1365-3083.2011.02603.x
DO - 10.1111/j.1365-3083.2011.02603.x
M3 - Journal article
C2 - 21812800
VL - 74
SP - 548
EP - 553
JO - Scandinavian Journal of Immunology, Supplement
JF - Scandinavian Journal of Immunology, Supplement
SN - 0301-6323
IS - 6
ER -
ID: 40185913