Siblings with ACTH Insensitivity Due to Lack of ACTH Binding to the Receptor.

Yamamoto, Yukiyo; Kawada, Yasusada; Noda, Masanori; Yamagishi, Minoru; Ishida, Osamu; Fujihira, Takashi; Shirakawa, Fumihiko; Morimoto, Isao

doi:10.1507/endocrj.42.171

Cited by 7 publications

(3 citation statements)

References 27 publications

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“…In terms of diagnosis, there is the interesting possibility that neuropeptide, neurotransmitter and hormone receptors on peripheral blood cells might serve as surrogates to evaluate structure and function of those receptors at more central and inaccessible sites. In fact, the ability to detect a form of ACTH insensitivity syndrome by testing for the lack of high-affinity ACTH receptors on peripheral blood mononuclear cells may represent the first example [51,83].…”

Section: Future Directions For the Sixth Sensementioning

confidence: 99%

The immune system as the sixth sense

Blalock

2005

Journal of Internal Medicine

194

109

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Abstract. Blalock JE (University of Alabama, Birmingham, USA). The immune system as the sixth sense (Minisymposium). J Intern Med 2005; 257: 126-138.One of the truly remarkable discoveries in modern biology is the finding that the nervous system and immune system use a common chemical language for intra-and inter-system communication. This review will discuss some of the pivotal results that deciphered this chemical language. Specifically the nervous and immune systems produce a common set of peptide and nonpeptide neurotransmitters and cytokines that act on a common repertoire of receptors in the two systems. The paper will also review more recent studies that have delineated hardwired and humoral pathways for such bidirectional communication. This is discussed in the context of the idea that the sharing of ligands and receptors allows the immune system to serve as the sixth sense that notifies the nervous system of the presence of entities, such as viruses and bacteria, that are imperceptible to the classic senses. Lastly, this review will suggest ways to apply the newfound knowledge of the sixth sense to understand a placebo effect and to treate human disease.

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Section: Future Directions For the Sixth Sensementioning

confidence: 99%

The immune system as the sixth sense

Blalock

2005

Journal of Internal Medicine

194

109

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“…It remains to be seen if increased height will prove a useful clinical finding in identifying a subclass of patients with ACTH insensitivity in whom mutation analysis of the ACTH receptor gene is more likely to yield a mutation. However, tall stature has also been found in patients with FGD but without mutations in the ACTH receptor gene (20).…”

Section: Discussionmentioning

confidence: 99%

ACTH receptor mutation in a girl with familial glucocorticoid deficiency

Slavotinek¹,

Hurst²

1998

Clin Genet

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Familial glucocorticoid deficiency (FGD) has long been recognised as a clinical entity, but molecular studies have so far been performed in only a few individuals. We describe a girl born to consanguineous Pakistani parents with clinical and biochemical features of FGD who is homozygous for the R146H mutation of the adrenocorticotropic hormone (ACTH) receptor gene. This mutation creates a new restriction enzyme site in the ACTH receptor gene, allowing accurate characterisation of the mutation without DNA sequencing. Our patient is the third child reported to be homozygous for the R146H mutation. Interestingly, she has a tall stature, a clinical finding reported in several children who have ACTH insufficiency and mutations of the ACTH receptor gene. We suggest that mutation analysis of the ACTH receptor gene be considered in children with clinical features of FGD and tall stature.

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“…Indeed, the ability to detect a form of glucocorticoid deficiency due to ACTH insensitivity syndrome by testing for the absence of high affinity ACTH binding sites on peripheral blood mononuclear cells of a patient may represent the first example. 67,68…”

Section: Recent Developmentsmentioning

confidence: 99%

Proopiomelanocortin and the Immune‐Neuroendocrine Connection

Blalock

1999

Annals of the New York Academy of Sciences

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This presentation will cover the history, recent developments in, and implications of the ability of both the immune and neuroendocrine systems to produce POMC. The discovery of POMC in immune cells was one of the events that heralded a molecular understanding of neuroimmunomodulation. This, together with the presence of opiate and ACTH receptors on lymphocytes and macrophages, provided the first biochemical circuit for which the same signal molecules and receptors could be used for intrasystem regulation, as well as bidirectional communication between the immune and neuroendocrine systems. Today we have a quite good understanding of the regulation and processing of POMC in immune cells, as well as the interaction of its product peptides with other cytokines. For instance, IL-1 causes POMC production by immune cells, and the POMC product, ␣ -MSH, in turn, acts functionally as an IL-1 antagonist. In the past year, the expression of full-length POMC mRNA has been reported and this solved one of the paradoxes with respect to POMC production, processing, and secretion. We provide data on these developments together with quite startling findings on the physiologic function of POMC peptides in the immune system. Among these are the local antinociceptive effects of immune cell-derived ␤ -endorphin, altered hematopoiesis in opiate receptor-deficient animals, and the diagnosis of ACTH insensitivity by a deficiency of ACTH receptors on lymphocytes.

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Siblings with ACTH Insensitivity Due to Lack of ACTH Binding to the Receptor.

Cited by 7 publications

References 27 publications

The immune system as the sixth sense

The immune system as the sixth sense

ACTH receptor mutation in a girl with familial glucocorticoid deficiency

Proopiomelanocortin and the Immune‐Neuroendocrine Connection

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