Learning from mothers who received focused parent–infant psychotherapy for the treatment of their child’s regulatory disorders

Abstract Severe immune cytopenias (SICs) are rare acquired conditions characterized by immune-mediated blood cell destruction. They may necessitate emergency medical management and long-term immunosuppressive therapy, strongly compromising the quality of life. The initial diagnostic workup involves excluding malignancies, congenital cytopenias, bone marrow failure syndromes, infections, and rheumatologic diseases such as systemic lupus erythematosus. Causal factors for SIC such as primary immunodeficiencies or immune regulatory disorders, which are referred to as inborn errors of immunity (IEIs), should be diagnosed as early as possible to allow the initiation of a targeted therapy and avoid multiple lines of ineffective treatment. Ideally, this therapy is directed against an overexpressed or overactive gene product or substitutes a defective protein, restoring the impaired pathway; it can also act indirectly, enhancing a countermechanism against the disease-causing defect. Ultimately, the diagnosis of an underling IEI in patients with refractory SIC may lead to evaluation for hematopoietic stem cell transplantation or gene therapy as a definitive treatment. Interdisciplinary care is highly recommended in this complex patient cohort. This case-based educational review supports decision making for patients with immune-mediated cytopenias and suspected inborn errors of immunity.

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P.7.a.002 Perinatal maternal DSM-IV anxiety and depressive disorders and regulatory disorders in the offspring

European Neuropsychopharmacology ◽

10.1016/s0924-977x(13)70931-3 ◽

2013 ◽

Vol 23 ◽

pp. S584-S585

Author(s):

J. Petzoldt ◽

H.U. Wittchen ◽

J. Wittich ◽

J. Martini

Keyword(s):

Depressive Disorders ◽

Dsm Iv ◽

Regulatory Disorders

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Diagnosis of orthostatic regulatory disorders of human circulatory system using Petri nets

Proceedings of 17th International Conference of the Engineering in Medicine and Biology Society ◽

10.1109/iembs.1995.579789 ◽

2002 ◽

Author(s):

N. Bouabdallah ◽

A.-R. Tanha ◽

D. Popovic

Keyword(s):

Petri Nets ◽

Circulatory System ◽

Regulatory Disorders ◽

Human Circulatory System

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Primary Immune Regulatory Disorders and Targeted Therapies

Turkish Journal of Hematology ◽

10.4274/tjh.galenos.2021.2020.0724 ◽

2021 ◽

Author(s):

Burcu Kolukısa ◽

Safa Barış

Keyword(s):

Targeted Therapies ◽

Regulatory Disorders

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Primary Immune Regulatory Disorders With an Autoimmune Lymphoproliferative Syndrome-Like Phenotype: Immunologic Evaluation, Early Diagnosis and Management

Frontiers in Immunology ◽

10.3389/fimmu.2021.671755 ◽

2021 ◽

Vol 12 ◽

Author(s):

Marta López-Nevado ◽

Luis I. González-Granado ◽

Raquel Ruiz-García ◽

Daniel Pleguezuelo ◽

Oscar Cabrera-Marante ◽

...

Keyword(s):

Correct Diagnosis ◽

Clinical Manifestations ◽

Genetic Defects ◽

Immunological Study ◽

Autoimmune Lymphoproliferative Syndrome ◽

Loss Of Function ◽

Stat3 Phosphorylation ◽

Increased Risk ◽

Lymphoproliferative Syndrome ◽

Regulatory Disorders

Primary immune regulatory disorders (PIRD) are associated with autoimmunity, autoinflammation and/or dysregulation of lymphocyte homeostasis. Autoimmune lymphoproliferative syndrome (ALPS) is a PIRD due to an apoptotic defect in Fas-FasL pathway and characterized by benign and chronic lymphoproliferation, autoimmunity and increased risk of lymphoma. Clinical manifestations and typical laboratory biomarkers of ALPS have also been found in patients with a gene defect out of the Fas-FasL pathway (ALPS-like disorders). Following the Preferred Reporting Items for Systematic Reviews and Meta-analyses (PRISMA), we identified more than 600 patients suffering from 24 distinct genetic defects described in the literature with an autoimmune lymphoproliferative phenotype (ALPS-like syndromes) corresponding to phenocopies of primary immunodeficiency (PID) (NRAS, KRAS), susceptibility to EBV (MAGT1, PRKCD, XIAP, SH2D1A, RASGRP1, TNFRSF9), antibody deficiency (PIK3CD gain of function (GOF), PIK3R1 loss of function (LOF), CARD11 GOF), regulatory T-cells defects (CTLA4, LRBA, STAT3 GOF, IL2RA, IL2RB, DEF6), combined immunodeficiencies (ITK, STK4), defects in intrinsic and innate immunity and predisposition to infection (STAT1 GOF, IL12RB1) and autoimmunity/autoinflammation (ADA2, TNFAIP3,TPP2, TET2). CTLA4 and LRBA patients correspond around to 50% of total ALPS-like cases. However, only 100% of CTLA4, PRKCD, TET2 and NRAS/KRAS reported patients had an ALPS-like presentation, while the autoimmunity and lymphoproliferation combination resulted rare in other genetic defects. Recurrent infections, skin lesions, enteropathy and malignancy are the most common clinical manifestations. Some approaches available for the immunological study and identification of ALPS-like patients through flow cytometry and ALPS biomarkers are provided in this work. Protein expression assays for NKG2D, XIAP, SAP, CTLA4 and LRBA deficiencies and functional studies of AKT, STAT1 and STAT3 phosphorylation, are showed as useful tests. Patients suspected to suffer from one of these disorders require rapid and correct diagnosis allowing initiation of tailored specific therapeutic strategies and monitoring thereby improving the prognosis and their quality of life.

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