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Article ; Online: IgG4-related disease and B-cell malignancy due to an IKZF1 gain-of-function variant.

García-Solís, Blanca / Tapia-Torres, María / García-Soidán, Ana / Hernández-Brito, Elisa / Martínez-Saavedra, María Teresa / Lorenzo-Salazar, José M / García-Hernández, Sonia / Van Den Rym, Ana / Mayani, Karan / Govantes-Rodríguez, José Vicente / Gervais, Adrian / Bastard, Paul / Puel, Anne / Casanova, Jean-Laurent / Flores, Carlos / Pérez de Diego, Rebeca / Rodríguez-Gallego, Carlos

The Journal of allergy and clinical immunology

2024

Abstract: Background: Monoallelic loss-of-function IKZF1 (IKAROS) variants cause B-cell deficiency or combined immunodeficiency, whereas monoallelic gain-of-function (GOF) IKZF1 variants have recently been reported to cause hypergammaglobulinemia, abnormal plasma ...

Abstract	Background: Monoallelic loss-of-function IKZF1 (IKAROS) variants cause B-cell deficiency or combined immunodeficiency, whereas monoallelic gain-of-function (GOF) IKZF1 variants have recently been reported to cause hypergammaglobulinemia, abnormal plasma cell differentiation, autoimmune and allergic manifestations, and infections. Objective: We studied 7 relatives with autoimmune/inflammatory and lymphoproliferative manifestations to identify the immunologic disturbances and the genetic cause of their disease. Methods: We analyzed biopsy results and performed whole-exome sequencing and immunologic studies. Results: Disease onset occurred at a mean age of 25.2 years (range, 10-64, years). Six patients suffered from autoimmune/inflammatory diseases, 4 had confirmed IG4-related disease (IgG4-RD), and 5 developed B-cell malignancies: lymphoma in 4 and multiple myeloma in the remaining patient. Patients without immunosuppression were not particularly prone to infectious diseases. Three patients suffered from life-threatening coronavirus disease 2019 pneumonia, of whom 1 had autoantibodies neutralizing IFN-α. The recently described IKZF1 GOF p.R183H variant was found in the 5 affected relatives tested and in a 6-year-old asymptomatic girl. Immunologic analysis revealed hypergammaglobulinemia and high frequencies of certain lymphocyte subsets (exhausted B cells, effector memory CD4 T cells, effector memory CD4 T cells that have regained surface expression of CD45RA and CD28 Conclusions: Heterozygosity for GOF IKZF1 variants underlies autoimmunity/inflammatory diseases, IgG4-RD, and B-cell malignancies, the onset of which may occur in adulthood. Clinical and immunologic data are similar to those for patients with unexplained IgG4-RD. Patients may therefore benefit from treatments inhibiting pathways displaying IKAROS-mediated overactivity.
Language	English
Publishing date	2024-04-04
Publishing country	United States
Document type	Journal Article
ZDB-ID	121011-7
ISSN	1097-6825 ; 1085-8725 ; 0091-6749
ISSN (online)	1097-6825 ; 1085-8725
ISSN	0091-6749
DOI	10.1016/j.jaci.2024.03.018
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Article ; Online: Regulation of inflammation and protection against invasive pneumococcal infection by the long pentraxin PTX3.

Porte, Rémi / Silva-Gomes, Rita / Theroude, Charlotte / Parente, Raffaella / Asgari, Fatemeh / Sironi, Marina / Pasqualini, Fabio / Valentino, Sonia / Asselta, Rosanna / Recordati, Camilla / Monari, Marta Noemi / Doni, Andrea / Inforzato, Antonio / Rodriguez-Gallego, Carlos / Obando, Ignacio / Colino, Elena / Bottazzi, Barbara / Mantovani, Alberto

eLife

2023 Volume 12

Abstract: Streptococcus ... ...

Abstract	Streptococcus pneumoniae
MeSH term(s)	Animals ; Mice ; Inflammation/metabolism ; Neutrophils/metabolism ; Phagocytosis ; Pneumococcal Infections/genetics ; Pneumococcal Infections/metabolism ; Streptococcus pneumoniae
Chemical Substances	neuronal pentraxin
Language	English
Publishing date	2023-05-24
Publishing country	England
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	2687154-3
ISSN	2050-084X ; 2050-084X
ISSN (online)	2050-084X
ISSN	2050-084X
DOI	10.7554/eLife.78601
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Book: Human T lymphocyte activation deficiencies

Regueiro, José R. / Rodríguez-Gallego, Carlos / Arnaiz-Villena, Antonio

(Medical intelligence unit)

1994

Author's details	José R. Regueiro ; Carlos Rodríguez-Gallego ; Antonio Arnaiz-Villena
Series title	Medical intelligence unit
Keywords	T-Lymphocytes ; Immunity, Cellular / physiopathology ; Immunologic Diseases / physiopathology ; T-Lymphozyt ; Insuffizienz ; Immunkrankheit
Subject	Thymus-Lymphozyt ; T-Zelle ; T-Lymphozyt ; Thymozyt ; Immunopathie ; Immunologische Krankheit ; Immunologische Erkrankung
Language	English
Size	199 S. : Ill., graph. Darst.
Publisher	Landes
Publishing place	Austin
Publishing country	United States
Document type	Book
HBZ-ID	HT006343247
ISBN	1-57059-020-6 ; 978-1-57059-020-7
Database	Catalogue ZB MED Medicine, Health

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1994 A 2649	order for loan	Magazin

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Article ; Online: Primary and Secondary Immunodeficiency Diseases in Oncohaematology: Warning Signs, Diagnosis, and Management.

Sánchez-Ramón, Silvia / Bermúdez, Arancha / González-Granado, Luis Ignacio / Rodríguez-Gallego, Carlos / Sastre, Ana / Soler-Palacín, Pere

Frontiers in immunology

2019 Volume 10, Page(s) 586

Abstract: Background: ...

Abstract	Background:
MeSH term(s)	Adult ; Child ; Hematologic Neoplasms/complications ; Hematologic Neoplasms/immunology ; Humans ; Immunoglobulins, Intravenous/therapeutic use ; Immunologic Deficiency Syndromes/diagnosis ; Immunologic Deficiency Syndromes/etiology ; Immunologic Deficiency Syndromes/therapy ; Primary Immunodeficiency Diseases/etiology
Chemical Substances	Immunoglobulins, Intravenous
Language	English
Publishing date	2019-03-26
Publishing country	Switzerland
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	2606827-8
ISSN	1664-3224 ; 1664-3224
ISSN (online)	1664-3224
ISSN	1664-3224
DOI	10.3389/fimmu.2019.00586
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Article ; Online: Alpha-1 antitrypsin deficiency hidden in allegedly normal variants.

Suárez-Lorenzo, Isadora / Hernández-Brito, Elisa / Almeida-Quintana, Lourdes / Llanos, Cesar García-de / González-Quevedo, Nereida / Carrillo-Díaz, Teresa / Rodríguez-Gallego, Carlos

The Journal of asthma : official journal of the Association for the Care of Asthma

2021 Volume 59, Issue 7, Page(s) 1372–1375

Abstract: Introduction: Rare variants of Alpha-1 antitrypsin (AAT) deficiency (AATD) have been described by the Spanish registry of patients with AATD. The great majority of these rare variants are Mmalton alleles and many recent case series of them have been ... ...

Abstract	Introduction: Rare variants of Alpha-1 antitrypsin (AAT) deficiency (AATD) have been described by the Spanish registry of patients with AATD. The great majority of these rare variants are Mmalton alleles and many recent case series of them have been identified in the Canary Islands. The objective of this study was to analyze the distribution of Mmalton mutations in a Canarian population previously studied for the most common deficient alleles, namely PIS (S) and PIZ (Z), with PIM (M) being the normal variant. Methods:* A cross-sectional study of 648 patients with allergic asthma was carried out. Mmalton mutation of the Results: Of the 648 patients, 3 (0.46%) were carriers of a Mmalton allele. All of them had low levels of AAT (53.9 mg/dL, 90 mg/dL, and 61 mg/dL, respectively) and were asymptomatic, showing normal lung function, radiological images, and levels of hepatic transaminases. Conclusion: In conclusion, although the most frequent AATD genotypes are Z and S alleles, it is important to consider other rare variants, particularly when low AAT serum levels are observed. Although individuals with the Mmalton mutation usually have a heterogenous clinical presentation and very low levels of AAT, all the patients in this study were asymptomatic.
MeSH term(s)	Alleles ; Asthma/genetics ; Cross-Sectional Studies ; Genotype ; Humans ; alpha 1-Antitrypsin/genetics ; alpha 1-Antitrypsin Deficiency/genetics
Chemical Substances	alpha 1-Antitrypsin
Language	English
Publishing date	2021-07-13
Publishing country	England
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	603816-5
ISSN	1532-4303 ; 0277-0903
ISSN (online)	1532-4303
ISSN	0277-0903
DOI	10.1080/02770903.2021.1944186
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Book: Retinoblastoma

Rodríguez-Gallego, Carlos / Wilson, Matthew W

(Pediatric oncology)

2010

Author's details	Carlos Rodriguez-Galindo, Matthew W. Wilson, editors
Series title	Pediatric oncology
MeSH term(s)	Retinoblastoma/diagnosis ; Retinoblastoma/therapy
Language	English
Size	xii, 156 p. :, ill.
Publisher	Springer
Publishing place	New York
Document type	Book
ISBN	9780387890715 ; 0387890718 ; 9780387890722 ; 0387890726
Database	Catalogue of the US National Library of Medicine (NLM)

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Article ; Online: Primary immunodeficiency diseases in lung disease: warning signs, diagnosis and management.

Soler-Palacín, Pere / de Gracia, Javier / González-Granado, Luis Ignacio / Martín, Carlos / Rodríguez-Gallego, Carlos / Sánchez-Ramón, Silvia

Respiratory research

2018 Volume 19, Issue 1, Page(s) 219

Abstract: Background: Pulmonary complications are common in primary immunodeficiency diseases (PID) and contribute to morbidity and mortality in these patients. However, their varied presentation and a general lack of awareness of PID in this setting make early ... ...

Abstract	Background: Pulmonary complications are common in primary immunodeficiency diseases (PID) and contribute to morbidity and mortality in these patients. However, their varied presentation and a general lack of awareness of PID in this setting make early diagnosis and treatment difficult. The aim of this study was to define the warning signs of PID in patients with respiratory manifestations, the necessary diagnostic tests, and the therapeutic management of both children and adults. Methods: A review of the literature was performed, and 43 PID interdisciplinary specialists were consulted. Results: This document identifies the pulmonary and extrapulmonary manifestations that should prompt a suspicion of PID, the immunological and respiratory tests that should be included in the diagnostic process according to the level of care, recommendations regarding the use of immunoglobulin replacement therapy according to the specific immunodeficiency, and the minimum recommended immunological and pulmonary monitoring in these patients. Conclusions: This document is the first to combine scientific evidence with the opinion of a broad panel of experts specializing in the treatment of patients with immunodeficiencies. It aims to provide a useful tool for all practitioners who are regularly involved in the management of these patients.
MeSH term(s)	Disease Management ; Expert Testimony/methods ; Expert Testimony/trends ; Humans ; Immunologic Deficiency Syndromes/diagnosis ; Immunologic Deficiency Syndromes/epidemiology ; Immunologic Deficiency Syndromes/therapy ; Lung Diseases/diagnosis ; Lung Diseases/epidemiology ; Lung Diseases/therapy
Language	English
Publishing date	2018-11-12
Publishing country	England
Document type	Journal Article ; Review
ZDB-ID	2041675-1
ISSN	1465-993X ; 1465-9921
ISSN (online)	1465-993X
ISSN	1465-9921
DOI	10.1186/s12931-018-0923-8
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Article ; Online: A global effort to dissect the human genetic basis of resistance to SARS-CoV-2 infection.

Andreakos, Evangelos / Abel, Laurent / Vinh, Donald C / Kaja, Elżbieta / Drolet, Beth A / Zhang, Qian / O'Farrelly, Cliona / Novelli, Giuseppe / Rodríguez-Gallego, Carlos / Haerynck, Filomeen / Prando, Carolina / Pujol, Aurora / Su, Helen C / Casanova, Jean-Laurent / Spaan, András N

Nature immunology

2021 Volume 23, Issue 2, Page(s) 159–164

Abstract: SARS-CoV-2 infections display tremendous interindividual variability, ranging from asymptomatic infections to life-threatening disease. Inborn errors of, and autoantibodies directed against, type I interferons (IFNs) account for about 20% of critical ... ...

Abstract	SARS-CoV-2 infections display tremendous interindividual variability, ranging from asymptomatic infections to life-threatening disease. Inborn errors of, and autoantibodies directed against, type I interferons (IFNs) account for about 20% of critical COVID-19 cases among SARS-CoV-2-infected individuals. By contrast, the genetic and immunological determinants of resistance to infection per se remain unknown. Following the discovery that autosomal recessive deficiency in the DARC chemokine receptor confers resistance to Plasmodium vivax, autosomal recessive deficiencies of chemokine receptor 5 (CCR5) and the enzyme FUT2 were shown to underlie resistance to HIV-1 and noroviruses, respectively. Along the same lines, we propose a strategy for identifying, recruiting, and genetically analyzing individuals who are naturally resistant to SARS-CoV-2 infection.
MeSH term(s)	Animals ; COVID-19/genetics ; COVID-19/immunology ; COVID-19/virology ; Disease Resistance/genetics ; Genetic Heterogeneity ; Genetic Predisposition to Disease ; Host-Pathogen Interactions ; Humans ; Phenotype ; Protective Factors ; Risk Assessment ; Risk Factors ; SARS-CoV-2/immunology ; SARS-CoV-2/pathogenicity
Language	English
Publishing date	2021-10-18
Publishing country	United States
Document type	Journal Article ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't ; Review
ZDB-ID	2016987-5
ISSN	1529-2916 ; 1529-2908
ISSN (online)	1529-2916
ISSN	1529-2908
DOI	10.1038/s41590-021-01030-z
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Zs.A 5294: Show issues			Location: Je nach Verfügbarkeit (siehe Angabe bei Bestand) bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular Jg. 1995 - 2021: Lesesall (2.OG) ab Jg. 2022: Lesesaal (EG)
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Article ; Online: Author Correction: A global effort to dissect the human genetic basis of resistance to SARS-CoV-2 infection.

Nature immunology

2021 Volume 23, Issue 2, Page(s) 341

Language	English
Publishing date	2021-11-24
Publishing country	United States
Document type	Published Erratum
ZDB-ID	2016987-5
ISSN	1529-2916 ; 1529-2908
ISSN (online)	1529-2916
ISSN	1529-2908
DOI	10.1038/s41590-021-01096-9
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Zs.A 5294: Show issues			Location: Je nach Verfügbarkeit (siehe Angabe bei Bestand) bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular Jg. 1995 - 2021: Lesesall (2.OG) ab Jg. 2022: Lesesaal (EG)
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Article ; Online: Role of CD39 in COVID-19 Severity: Dysregulation of Purinergic Signaling and Thromboinflammation.

Díaz-García, Elena / García-Tovar, Sara / Alfaro, Enrique / Zamarrón, Ester / Mangas, Alberto / Galera, Raúl / Ruíz-Hernández, José Juan / Solé-Violán, Jordi / Rodríguez-Gallego, Carlos / Van-Den-Rym, Ana / Pérez-de-Diego, Rebeca / Nanwani-Nanwani, Kapil / López-Collazo, Eduardo / García-Rio, Francisco / Cubillos-Zapata, Carolina

Frontiers in immunology

2022 Volume 13, Page(s) 847894

Abstract: CD39/NTPDase1 has emerged as an important molecule that contributes to maintain inflammatory and coagulatory homeostasis. Various studies have hypothesized the possible role of CD39 in COVID-19 pathophysiology since no confirmatory data shed light in ... ...

Abstract	CD39/NTPDase1 has emerged as an important molecule that contributes to maintain inflammatory and coagulatory homeostasis. Various studies have hypothesized the possible role of CD39 in COVID-19 pathophysiology since no confirmatory data shed light in this regard. Therefore, we aimed to quantify CD39 expression on COVID-19 patients exploring its association with severity clinical parameters and ICU admission, while unraveling the role of purinergic signaling on thromboinflammation in COVID-19 patients. We selected a prospective cohort of patients hospitalized due to severe COVID-19 pneumonia (n=75), a historical cohort of Influenza A pneumonia patients (n=18) and sex/age-matched healthy controls (n=30). CD39 was overexpressed in COVID-19 patients' plasma and immune cell subsets and related to hypoxemia. Plasma soluble form of CD39 (sCD39) was related to length of hospital stay and independently associated with intensive care unit admission (adjusted odds ratio 1.04, 95%CI 1.0-1.08, p=0.038), with a net reclassification index of 0.229 (0.118-0.287; p=0.036). COVID-19 patients showed extracellular accumulation of adenosine nucleotides (ATP and ADP), resulting in systemic inflammation and pro-coagulant state, as a consequence of purinergic pathway dysregulation. Interestingly, we found that COVID-19 plasma caused platelet activation, which was successfully blocked by the P2Y
MeSH term(s)	Adenosine Diphosphate/analysis ; Adenosine Triphosphate/analysis ; Apyrase/blood ; Apyrase/metabolism ; Biomarkers/blood ; Blood Platelets/immunology ; COVID-19/pathology ; Cell Hypoxia/physiology ; Critical Care/statistics & numerical data ; Female ; Humans ; Influenza A virus/immunology ; Influenza, Human/pathology ; Length of Stay ; Male ; Middle Aged ; Platelet Activation/immunology ; Prognosis ; Prospective Studies ; Purinergic P2Y Receptor Antagonists/pharmacology ; Receptors, Purinergic P2Y/metabolism ; SARS-CoV-2/immunology ; Severity of Illness Index ; Signal Transduction/immunology ; Thromboinflammation/immunology ; Thromboinflammation/pathology ; Ticagrelor/pharmacology
Chemical Substances	Biomarkers ; Purinergic P2Y Receptor Antagonists ; Receptors, Purinergic P2Y ; Adenosine Diphosphate (61D2G4IYVH) ; Adenosine Triphosphate (8L70Q75FXE) ; Apyrase (EC 3.6.1.5) ; ENTPD1 protein, human (EC 3.6.1.5) ; Ticagrelor (GLH0314RVC)
Language	English
Publishing date	2022-01-31
Publishing country	Switzerland
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	2606827-8
ISSN	1664-3224 ; 1664-3224
ISSN (online)	1664-3224
ISSN	1664-3224
DOI	10.3389/fimmu.2022.847894
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