Deficit of Anterior Pituitary Function and Variable Immune Deficiency Syndrome

Poowuttikul, Pavadee; McGrath, Eric; Kamat, Deepak

doi:10.1177/2333794x16686870

Cited by 3 publications

(3 citation statements)

References 23 publications

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“…Other distinct anterior pituitary defects and/or combined with endocrine end-organ dysfunctions were reported (7, 9, 11, 13, 15, 16, 19, 21, 22, 24, 25). The most important characterized reported cases are summarized in Table 1 (6–11, 14, 15, 17–25).…”

Section: Introductionmentioning

confidence: 99%

Endocrine Disorders Are Prominent Clinical Features in Patients With Primary Antibody Deficiencies

et al. 2019

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Background: Primary antibody deficiencies (PADs) and anterior pituitary dysfunction are both rare conditions. However, recent studies have remarkably reported the occurrence of anterior pituitary dysfunction in PAD patients. Methods: In this cross-sectional, single-center study we evaluated the prevalence of endocrine disorders in adult PAD patients. Our study focused on common variable immunodeficiency (CVID), immunoglobulin G (IgG) subclass deficiency (IgGSD), and specific anti-polysaccharide antibody deficiency (SPAD). We assessed hormone levels, performed provocative tests and genetic testing in a subset of patients by direct sequencing of the nuclear factor kappa beta subunit 2 ( NFKB2 ) gene and primary immunodeficiency (PID) gene panel testing by whole exome sequencing (WES). Results: Our results demonstrated that one out of 24 IgGSD/SPAD patients had secondary hypothyroidism and three out of 9 men with IgGSD/SPAD had secondary hypogonadism. Premature ovarian failure was observed in four out of 9 women with CVID and primary testicular failure in one out of 15 men with CVID. In two out of 26 CVID patients we found partial adrenal insufficiency (AI) and in one out of 18 patients with IgGSD/SPAD secondary AI was found. Moreover, in one out of 23 patients with CVID and in two out of 17 patients with IgGSD/SPAD severe growth hormone deficiency (GHD) was found, while one patient with IgGSD/SPAD showed mild GHD. Combined endocrine disorders were detected in two women with CVID (either partial secondary AI or autoimmune thyroiditis with primary hypogonadism) and in three men with IgGSD/SPAD (two with either mild GHD or secondary hypothyroidism combined with secondary hypogonadism, and one man with secondary AI and severe GHD). Genetic testing in a subset of patients did not reveal pathogenic variants in NFKB2 or other known PID-associated genes. Conclusion: This is the first study to describe a high prevalence of both anterior pituitary and end-organ endocrine dysfunction in adult PAD patients. As these endocrine disorders may cause considerable health burden, assessment of endocrine axes should be considered in PAD patients.

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Section: Introductionmentioning

confidence: 99%

Endocrine Disorders Are Prominent Clinical Features in Patients With Primary Antibody Deficiencies

et al. 2019

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“…It has recently been published a case with DAVID syndrome having a heterozygous mutation (c.81G > A variants) in the TACI gene. 12 Our second case with the c.204dupA variant in the TNFRSF13B gene clearly showed the association of DAVID syndrome and TACI mutation. Regarding the association of TACI gene mutation and hypopituitarism, it is not precisely known whether the TACI gene mutation is the cause of hypopituitarism, or it is a coincidence.…”

Section: Discussionmentioning

confidence: 60%

Three different faces of TACI mutations

et al. 2020

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“…CVID associated with adrenal insufficiency is even rarer and it is a feature of APECED-like conditions [242], where different types of primary immunodeficiencies occur together with APECED features (defined by the presence of two of the following: chronic hypoparathyroidism, adrenal insufficiency, and chronic mucocutaneous candidiasis) in patients with AIRE gene polymorphisms. CVID can also occur in patients with DAVID syndrome (anterior pituitary function and variable immune deficiency) [243,244].…”

Section: Autoimmune Manifestations In Cvid and Sigadmentioning

confidence: 99%

Common Variable Immunodeficiency and Selective IgA Deficiency: Focus on Autoimmune Manifestations and Their Pathogenesis

Sircana,

Vidili,

Gidaro

et al. 2023

IJTM

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Inborn errors of immunity (IEI) are multifaced diseases which can present with a variety of phenotypes, ranging from infections to autoimmunity, lymphoproliferation, and neoplasms. In recent decades, research has investigated the relationship between autoimmunity and IEI. Autoimmunity is more prevalent in primary humoral immunodeficiencies than in most other IEI and it can even be their first manifestation. Among these, the two most common primary immunodeficiencies are selective IgA deficiency and common variable immunodeficiency. More than half of the patients with these conditions develop non-infectious complications due to immune dysregulation: autoimmune, autoinflammatory, allergic disorders, and malignancies. Around 30% of these patients present with autoimmune phenomena, such as cytopenia, gastrointestinal and respiratory complications, and endocrine and dermatologic features. Complex alterations of the central and peripheral mechanisms of tolerance are involved, affecting mainly B lymphocytes but also T cells and cytokines. Not only the immunophenotype but also advances in genetics allow us to diagnose monogenic variants of these diseases and to investigate the pathogenetic basis of the immune dysregulation. The diagnosis and therapy of the primary humoral immunodeficiencies has been mostly focused on the infectious complications, while patients with predominant features of immune dysregulation and autoimmunity still present a challenge for the clinician and an opportunity for pathogenetic and therapeutic research.

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Deficit of Anterior Pituitary Function and Variable Immune Deficiency Syndrome

Cited by 3 publications

References 23 publications

Endocrine Disorders Are Prominent Clinical Features in Patients With Primary Antibody Deficiencies

Endocrine Disorders Are Prominent Clinical Features in Patients With Primary Antibody Deficiencies

Three different faces of TACI mutations

Common Variable Immunodeficiency and Selective IgA Deficiency: Focus on Autoimmune Manifestations and Their Pathogenesis

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