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Article ; Online: Cutaneous Granulomatosis Revealing Whipple’s Disease

Souheil Zayet / Pierre Isnard / Jacinta Bustamante / David Boutboul / Sarra Abroug / Nabil Belfeki

Pathogens, Vol 10, Iss 1438, p

Value of Tropheryma whipplei Polymerase Chain Reaction Assay for the Diagnosis

2021 Volume 1438

Abstract: Whipple’s Disease is a rare systemic infectious disease caused by the ubiquitous actinomycetes Tropheryma whipplei (T. whipplei). We report herein a rare case of a cutaneous granulo matosis with hypercalcemia as an unusual presenting feature of Whipple’s ...

Abstract	Whipple’s Disease is a rare systemic infectious disease caused by the ubiquitous actinomycetes Tropheryma whipplei (T. whipplei). We report herein a rare case of a cutaneous granulo matosis with hypercalcemia as an unusual presenting feature of Whipple’s disease. The diagnosis of the bacteria was obtained from skin and inguinal lymph node biopsy (16 rDNA PCR screening and histological examination using PAS staining). T. whipplei was also identified on saliva and stool specimens, using specific PCR and colonic biopsies. Treatment with hydroxychloroquine and doxycycline allowed a rapid resolution of symptoms with a complete recovery.
Keywords	granulomatosis ; polymerase chain reaction ; skin ; Whipple’s disease ; Tropheryma whipplei ; Medicine ; R
Language	English
Publishing date	2021-11-01T00:00:00Z
Publisher	MDPI AG
Document type	Article ; Online
Database	BASE - Bielefeld Academic Search Engine (life sciences selection)

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Article ; Online: Notch, RORC and IL-23 signals cooperate to promote multi-lineage human innate lymphoid cell differentiation

Carys A. Croft / Anna Thaller / Solenne Marie / Jean-Marc Doisne / Laura Surace / Rui Yang / Anne Puel / Jacinta Bustamante / Jean-Laurent Casanova / James P. Di Santo

Nature Communications, Vol 13, Iss 1, Pp 1-

2022 Volume 14

Abstract: Innate lymphoid cells (ILC) are effector cells that rapidly respond to immune evading stimuli, and despite their functional diversity arise from common precursors. Authors here show how the Notch signalling pathway orchestrates ILC development from ... ...

Abstract	Innate lymphoid cells (ILC) are effector cells that rapidly respond to immune evading stimuli, and despite their functional diversity arise from common precursors. Authors here show how the Notch signalling pathway orchestrates ILC development from circulating human ILC precursors via RORC and its target IL-23R.
Keywords	Science ; Q
Language	English
Publishing date	2022-07-01T00:00:00Z
Publisher	Nature Portfolio
Document type	Article ; Online
Database	BASE - Bielefeld Academic Search Engine (life sciences selection)

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Article ; Online: Invasive Rhinosinusitis Caused by Alternaria infectoria in a Patient with Autosomal Recessive CARD9 Deficiency and a Review of the Literature

Olivier Paccoud / Nicolas Vignier / Mohammed Boui / Mélanie Migaud / Pierre Vironneau / Romain Kania / Frédéric Méchaï / Sophie Brun / Alexandre Alanio / Arnault Tauziède-Espariat / Homa Adle-Biassette / Elise Ouedraogo / Jacinta Bustamante / Olivier Bouchaud / Jean-Laurent Casanova / Anne Puel / Fanny Lanternier

Journal of Fungi, Vol 8, Iss 446, p

2022 Volume 446

Abstract: Phaeohyphomycoses comprise a heterogeneous group of fungal infections caused by dematiaceous fungi and have primarily been reported in patients with underlying acquired immunodeficiencies, such as hematological malignancies or solid-organ transplants. ... ...

Abstract	Phaeohyphomycoses comprise a heterogeneous group of fungal infections caused by dematiaceous fungi and have primarily been reported in patients with underlying acquired immunodeficiencies, such as hematological malignancies or solid-organ transplants. Over the past decade, a growing number of patients with phaeohyphomycosis but otherwise healthy were reported with autosomal recessive (AR) CARD9 deficiency. We report a 28-year-old woman who presented with invasive rhinosinusitis caused by Alternaria infectoria . Following a candidate gene sequencing approach, we identified a biallelic loss-of-function mutation of CARD9, thereby further broadening the spectrum of invasive fungal diseases found in patients with inherited CARD9 deficiency. In addition, we reviewed 17 other cases of phaeohyphomycosis associated with AR CARD9 deficiency. Physicians should maintain a high degree of suspicion for inborn errors of immunity, namely CARD9 deficiency, when caring for previously healthy patients with phaeohyphomycosis, regardless of age at first presentation.
Keywords	Alternaria infectoria ; CARD9 deficiency ; phaeohyphomycosis ; invasive fungal sinusitis ; Biology (General) ; QH301-705.5
Subject code	610
Language	English
Publishing date	2022-04-01T00:00:00Z
Publisher	MDPI AG
Document type	Article ; Online
Database	BASE - Bielefeld Academic Search Engine (life sciences selection)

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Article ; Online: Disseminated Mycobacterium simiae Infection in a Patient with Complete IL-12p40 Deficiency

Seyed Alireza Mahdaviani / Majid Marjani / Mahnaz Jamee / Armin Khavandegar / Hosseinali Ghaffaripour / Golnaz Eslamian / Mehdi Ghaini / Shabnam Eskandarzadeh / Jean-Laurent Casanova / Jacinta Bustamante / Davood Mansouri / Ali Akbar Velayati

Iranian Journal of Allergy, Asthma and Immunology, Vol 20, Iss

2021 Volume 3

Abstract: Mendelian susceptibility to mycobacterial disease (MSMD) is a rare group of genetic disorders characterized by infections with weakly virulent environmental mycobacteria (EM) or Mycobacterium bovis bacillus Calmette-Guérin (BCG). Herein, we described the ...

Abstract	Mendelian susceptibility to mycobacterial disease (MSMD) is a rare group of genetic disorders characterized by infections with weakly virulent environmental mycobacteria (EM) or Mycobacterium bovis bacillus Calmette-Guérin (BCG). Herein, we described the case of a 4.5-year-old boy with protein-losing enteropathy, lymphoproliferation, and candidiasis, who was found to have disseminated Mycobacterium simiae infection. A homozygous mutation in the IL12B gene, c.527_528delCT (p.S176Cfs*12) was identified, responsible for the complete IL-12p40 deficiency. He was resistant to anti-mycobacterial treatment and finally died due to sepsis-related complications.
Keywords	Mycobacterium simiae ; Primary immunodeficiency ; Medicine ; R
Language	English
Publishing date	2021-06-01T00:00:00Z
Publisher	Tehran University of Medical Sciences
Document type	Article ; Online
Database	BASE - Bielefeld Academic Search Engine (life sciences selection)

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Article ; Online: Skewed X-inactivation in a Female Carrier with X-linked Chronic Granulomatous Disease

Itzel López-Hernández / Caroline Deswarte / Miguel Ángel Alcantara-Ortigoza / María del Mar Saez-de-Ocariz / Marco Antonio Yamazaki-Nakashimada / Sara Elva Espinosa-Padilla / Jacinta Bustamante / Lizbeth Blancas-Galicia

Iranian Journal of Allergy, Asthma and Immunology, Vol 18, Iss

2019 Volume 4

Abstract: Chronic granulomatous disease (CGD) is a primary immunodeficiency caused by defective phagocytic NADPH oxidase, causing a complete lack or significant decrease in the production of microbicidal reactive oxygen metabolites. It mainly affects male children; ...

Abstract	Chronic granulomatous disease (CGD) is a primary immunodeficiency caused by defective phagocytic NADPH oxidase, causing a complete lack or significant decrease in the production of microbicidal reactive oxygen metabolites. It mainly affects male children; however, there are scarce reports of adult females diagnosed with X-linked-CGD attributed to an extremely skewed X-chromosome inactivation. This condition is characterized by severe and recurrent infections that usually develop after childhood. In clinical practice, physicians who usually confront these patients should suspect this entity and differentiate it from a secondary immunodeficiency. Here, we report a 38-year-old Mexican female with juvenile-onset X linked-CGD, caused by a de novo mutation and extremely skewed X-inactivation, whose clinical features were similar to those in patients with classic X-linked-CDG.
Keywords	Autoimmunity ; X-linked chronic granulomatous disease carrier ; Discoid lupus ; Skewed lyonization ; X-inactivation ; X-linked chronic granulomatous disease ; Medicine ; R
Language	English
Publishing date	2019-08-01T00:00:00Z
Publisher	Tehran University of Medical Sciences
Document type	Article ; Online
Database	BASE - Bielefeld Academic Search Engine (life sciences selection)

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Article ; Online: Patient iPSC-Derived Macrophages to Study Inborn Errors of the IFN-γ Responsive Pathway

Kathrin Haake / Anna-Lena Neehus / Theresa Buchegger / Mark Philipp Kühnel / Patrick Blank / Friederike Philipp / Carmen Oleaga-Quintas / Ansgar Schulz / Michael Grimley / Ralph Goethe / Danny Jonigk / Ulrich Kalinke / Stéphanie Boisson-Dupuis / Jean-Laurent Casanova / Jacinta Bustamante / Nico Lachmann

Cells, Vol 9, Iss 2, p

2020 Volume 483

Abstract: Interferon γ (IFN-γ) was shown to be a macrophage activating factor already in 1984. Consistently, inborn errors of IFN-γ immunity underlie Mendelian Susceptibility to Mycobacterial Disease (MSMD). MSMD is characterized by genetic predisposition to ... ...

Abstract	Interferon γ (IFN-γ) was shown to be a macrophage activating factor already in 1984. Consistently, inborn errors of IFN-γ immunity underlie Mendelian Susceptibility to Mycobacterial Disease (MSMD). MSMD is characterized by genetic predisposition to disease caused by weakly virulent mycobacterial species. Paradoxically, macrophages from patients with MSMD were little tested. Here, we report a disease modeling platform for studying IFN-γ related pathologies using macrophages derived from patient specific induced pluripotent stem cells (iPSCs). We used iPSCs from patients with autosomal recessive complete- and partial IFN-γR2 deficiency, partial IFN-γR1 deficiency and complete STAT1 deficiency. Macrophages from all patient iPSCs showed normal morphology and IFN-γ-independent functionality like phagocytic uptake of bioparticles and internalization of cytokines. For the IFN-γ-dependent functionalities, we observed that the deficiencies played out at various stages of the IFN-γ pathway, with the complete IFN-γR2 and complete STAT1 deficient cells showing the most severe phenotypes, in terms of upregulation of surface markers and induction of downstream targets. Although iPSC-derived macrophages with partial IFN-γR1 and IFN-γR2 deficiency still showed residual induction of downstream targets, they did not reduce the mycobacterial growth when challenged with Bacillus Calmette−Guérin. Taken together, we report a disease modeling platform to study the role of macrophages in patients with inborn errors of IFN-γ immunity.
Keywords	hematopoiesis ; induced pluripotent stem cells ; macrophages ; msmd ; mycobacteria ; interferon γ ; Biology (General) ; QH301-705.5
Subject code	610
Language	English
Publishing date	2020-02-01T00:00:00Z
Publisher	MDPI AG
Document type	Article ; Online
Database	BASE - Bielefeld Academic Search Engine (life sciences selection)

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Article ; Online: Mendelian Susceptibility to Mycobacterial Disease due to IL-12Rβ1 Deficiency in Three Iranian Children

Shokouh Azam SARRAFZADEH / Maryam MAHLOOJIRAD / Maryam NOURIZADEH / Jean-Laurent CASANOVA / Zahra POURPAK / Jacinta BUSTAMANTE / Mostafa MOIN

Iranian Journal of Public Health, Vol 45, Iss

2016 Volume 3

Abstract: Mendelian susceptibility to mycobacterial diseases (MSMD) is a rare inheritance syndrome, characterized by a disseminated infection with mycobacterium in children following BCG vaccination at birth. Regarding the vaccination program in Iran, it may ... ...

Abstract	Mendelian susceptibility to mycobacterial diseases (MSMD) is a rare inheritance syndrome, characterized by a disseminated infection with mycobacterium in children following BCG vaccination at birth. Regarding the vaccination program in Iran, it may consider as a public health problem. The pathogenesis of MSMD is dependent on either insufficient production of IFN-gamma (γ) or inadequate response to it. Here, we want to introduce three cases including two siblings and one girl from two unrelated families with severe mycobacterial infections referred to Immunology, Asthma and Allergy Research Institute (IAARI), from 2013 to 2015; their MSMD was confirmed by both cytokine assessment and genetic analysis. Regarding the clinical features of the patients, cell proliferation against a mitogen and BCG antigen was ordered in a lymphocyte transformation test (LTT) setting. ELISA was performed for the measurement of IL-12p70 and IFN- γ in whole blood samples activated by BCG + recombinant human IFN-γ and BCG + recombinant human IL-12, respectively. In contrast to mitogen, the antigen-dependent proliferation activity of the patients’ leukocytes was significantly lower than that in normal range. We identified a homozygous mutation in IL12RB1 gene for two kindred who had a homozygous mutation affecting an essential splice site. For the third patient, a novel frameshift deletion in IL12RB1 gene was found. The genetic study results confirmed the impaired function of stimulated lymphocytes to release IFN-γ following stimulation with BCG+IL-12 while the response to rhIFN-γ for IL-12p70 production was relatively intact. Our findings show that cellular and molecular assessments are needed for precise identification of immunodeficiency disorders especially those without clear-cut diagnostic criteria.
Keywords	Mendelian ; IL-12Rβ1 Deficiency ; Interfron-gamma ; Interleukin 12 ; Mycobacterium ; Public aspects of medicine ; RA1-1270
Subject code	610
Language	English
Publishing date	2016-03-01T00:00:00Z
Publisher	Tehran University of Medical Sciences
Document type	Article ; Online
Database	BASE - Bielefeld Academic Search Engine (life sciences selection)

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Article ; Online: Mendelian Susceptibility to Mycobacterial Disease due to IL-12Rβ1 Deficiency in Three Iranian Children

Shokouh azam SARRAFZADEH / Maryam MAHLOOJIRAD / Maryam NOURIZADEH / Jean-Laurent CASANOVA / Zahra POURPAK / Jacinta BUSTAMANTE / Mostafa MOIN

Iranian Journal of Public Health, Vol 45, Iss

2016 Volume 2

Abstract	Mendelian susceptibility to mycobacterial diseases (MSMD) is a rare inheritance syndrome, characterized by a disseminated infection with mycobacterium in children following BCG vaccination at birth. Regarding the vaccination program in Iran, it may consider as a public health problem. The pathogenesis of MSMD is dependent on either insufficient production of IFN-gamma (γ) or inadequate response to it. Here, we want to introduce three cases including two siblings and one girl from two unrelated families with severe mycobacterial infections referred to Immunology, Asthma and Allergy Research Institute (IAARI), from 2013 to 2015; their MSMD was confirmed by both cytokine assessment and genetic analysis. Regarding the clinical features of the patients, cell proliferation against a mitogen and BCG antigen was ordered in a lymphocyte transformation test (LTT) setting. ELISA was performed for the measurement of IL-12p70 and IFN- γ in whole blood samples activated by BCG + recombinant human IFN-γ and BCG + recombinant human IL-12, respectively. In contrast to mitogen, the antigen-dependent proliferation activity of the patients’ leukocytes was significantly lower than that in normal range. We identified a homozygous mutation in IL12RB1 gene for two kindred who had a homozygous mutation affecting an essential splice site. For the third patient, a novel frameshift deletion in IL12RB1 gene was found. The genetic study results confirmed the impaired function of stimulated lymphocytes to release IFN-γ following stimulation with BCG+IL-12 while the response to rhIFN-γ for IL-12p70 production was relatively intact. Our findings show that cellular and molecular assessments are needed for precise identification of immunodeficiency disorders especially those without clear-cut diagnostic criteria.
Keywords	Mendelian ; IL-12Rβ1 Deficiency ; Interfron-gamma ; Interleukin 12 ; Mycobacterium ; Public aspects of medicine ; RA1-1270
Subject code	610
Language	English
Publishing date	2016-02-01T00:00:00Z
Publisher	Tehran University of Medical Sciences
Document type	Article ; Online
Database	BASE - Bielefeld Academic Search Engine (life sciences selection)

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Article ; Online: Interferon-γ Autoantibodies as Predisposing Factor for Nontuberculous Mycobacterial Infection

Florent Valour / Thomas Perpoint / Agathe Sénéchal / Xiao-Fei Kong / Jacinta Bustamante / Tristan Ferry / Christian Chidiac / Florence Ader

Emerging Infectious Diseases, Vol 22, Iss 6, Pp 1124-

2016 Volume 1126

Keywords	Non-tuberculous mycobacteria ; interferon-gamma ; interferon-γ ; antibody ; autoantibodies ; Herpesviridae ; monoclonal ; Interleukine 12 ; immunodeficiency ; antimycobacteria ; Mycobacterium ; intracellulare ; Nontuberculous mycobacteria ; non-tuberculous ; Medicine ; R ; Infectious and parasitic diseases ; RC109-216
Language	English
Publishing date	2016-06-01T00:00:00Z
Publisher	Centers for Disease Control and Prevention
Document type	Article ; Online
Database	BASE - Bielefeld Academic Search Engine (life sciences selection)

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Article ; Online: MENDELIAN SUSCEPTIBILITY TO MYCOBACTERIAL DISEASE IN EGYPTIAN CHILDREN

Nermeen Galal / Jeannette Boutros / Aisha Marsafy / Xiao-Fei Kong / Jacqueline Feinberg / Jean-Laurent Casanova / Stéphanie Boisson-Dupuis / Jacinta Bustamante

Mediterranean Journal of Hematology and Infectious Diseases, Vol 4, Iss 1, Pp e2012033-e

2012 Volume 2012033

Abstract: Background : Tuberculosis remains a major health problem in developing countries especially with the emergence of multidrug resistant strains. Mendelian Susceptibility to Mycobacterial Disease (MSMD) is a rare disorder with impaired immunity against ... ...

Abstract	Background : Tuberculosis remains a major health problem in developing countries especially with the emergence of multidrug resistant strains. Mendelian Susceptibility to Mycobacterial Disease (MSMD) is a rare disorder with impaired immunity against mycobacterial pathogens. Reported MSMD etiologies highlight the crucial role of the Interferon gamma /Interleukin 12 (IFN-g/ IL-12) axis and the phagocyte respiratory burst axis. Purpose: Screen patients with possible presentations for MSMD. Methods : Patients with disseminated BCG infection following vaccination, atypical mycobacterial infections or recurrent tuberculosis infections were recruited from the Primary Immune Deficiency Clinic at Cairo University Specialized Pediatric Hospital, Egypt and immune and genetic laboratory investigations were conducted at Human Genetic of Infectious Diseases laboratory in Necker Medical School, France from 2005-2009. IFN-g level in patient’s plasma as well as mutations in the eight previously identified MSMD-causing genes were explored. Results: Nine cases from eight (unrelated) kindreds were evaluated in detail. We detected a high level of IFN-g in plasma in one patient. Through Sanger sequencing, a homozygous mutation in the IFNGR1 gene at position 485 corresponding to an amino acid change from serine to phenylalanine (S485F), was detected in this patient. Conclusion: We report the first identified cases of MSMD among Egyptian patients, including in particular a new IFNGR1 mutation underlying IFN-gR1 deficiency. The eight remaining patients need to be explored further. These findings have implications regarding the compulsory Bacillus Calmette Guerin vaccination policy in Egypt, especially given the high consanguinity rate. Keywords: Interferon gamma axis, mycobacterium tuberculosis, BCG, consanguinity
Keywords	Tuberculosis ; Interferon gamma ; BCG ; Consanguinity ; Diseases of the blood and blood-forming organs ; RC633-647.5 ; Specialties of internal medicine ; RC581-951 ; Internal medicine ; RC31-1245 ; Medicine ; R ; DOAJ:Internal medicine ; DOAJ:Medicine (General) ; DOAJ:Health Sciences
Subject code	610
Language	English
Publishing date	2012-01-01T00:00:00Z
Publisher	Catholic University
Document type	Article ; Online
Database	BASE - Bielefeld Academic Search Engine (life sciences selection)

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