Clinical and immunological spectrum of five patients with activated phosphoinositide 3-kinase δ syndrome 1: A multicentric study from India Activated phosphoinositide 3-kinase δ syndrome 1 (APDS1) is a combined immunodeficiency caused by monoallelic gain-of-function mutations in the PIK3CD gene

APDS1 in India !
Clinical and immunological spectrum of five patients with activated phosphoinositide 3-kinase δ syndrome 1: A multicentric study from India rupress.org/jhi/article/...

Company | Somagenetix Meet Somagenetix, a Zurich-based biotech developing ex-vivo HSC gene therapies for phagocyte disorders such as CGD. Learn about our mission, team, and values. Programs are investigational.

6/ Janine Reichenbach’s group also develops viral vector mediated and genome editing therapies for diseases of the blood, immune system, and neuro-metabolic disorders. She co-founded Somagenetix AG, dedicated to the clinical translation of gene therapies. www.somagenetix.com/company.

5/ Janine Reichenbach stays busy with many scientific initiatives. She is co-director of a huge University of Zurich research consortium, (URPP ITINERARE), devoted to therapy development (molecular and genetic) for patients with rare diseases. www.itinerare.uzh.ch/en.html

4/ After leaving the lab, Janine Reichenbach completed her pediatric specialization and was soon recruited as Sr. Physician at Children's Hospital Zurich. In 2019 she was promoted to Assoc. Prof. at the University of Zurich and Dep. Dir. of IREM in 2020. www.irem.uzh.ch/en.html

3/ As a clinician scientist, Janine Reichenbach shared our passion for rigorous translational science. She said her training shaped her future career and opened doors. Her connections with past and present lab members permits ongoing collaboration & "true scientific friendship."

2/ Janine Reichenbach was an MD/PhD postdoctoral researcher in our Paris lab from 2000-2003 in our mycobacterial group. Her main project was on a patient with MSMD, caused by NEMO defect. She was co-first author on the study: doi.org/10.1086/501532

1/ Our next lab alumna is Janine Reichenbach. Her impressive list of titles includes Dep. Dir. at the Institute for Regenerative Medicine (IREM) of University of Zurich & Head of both the Div. of Gene and Cell Therapy (IREM) & the Div. of Somatic Gene Therapy at University Children's Hosp. Zurich.

Expanding the scope of PI3K-δ inhibition: Leniolisib treatment in PRKCD deficiency Lodi et al. report leniolisib use, a PI3Kδ inhibitor approved for APDS, in a teenager with protein kinase C δ deficiency and progressive multiorgan immune

New hope for these patients:
Expanding the scope of PI3K-δ inhibition: Leniolisib treatment in PRKCD deficiency rupress.org/jhi/article/...

Refractory infantile #IPEX with Treg-restricted FOXP3null expression caused by a novel variant in #FOXP3. New study from Ahmad Rayes, Rosa Bacchetta and colleagues @uofuhealth.bsky.social: rupress.org/jhi/article/...

#InbornErrorsOfImmunity #Autoimmunity
@clinimmsoc.bsky.social

Familial lupus associated with a P2RY8 variant: navigating the boundary between monogenic disease and genetic susceptibility to #lupus. New report from Clémence David, Marie-Louise Frémond @institutimagine.bsky.social and colleagues: rupress.org/jhi/article/...

@esidsociety.bsky.social

Perspective: Paul E. Gray, @sethlucianmasters.bsky.social, & Edwin P. Kirk argue that the lack of large association studies between Yao-associated variants & clinical phenotypes mean that the diagnosis should not be used in the literature or in the clinic rupress.org/jhi/article/...
#Autoimmunity

Using single-cell RNA-seq, Manabu Wakamatsu, Hideki Muramatsu et al. @en.nagoya-u.ac.jp show that rhG-CSF suppresses IFNγ signaling and promotes B-cell differentiation in reticular dysgenesis, with potential benefits before #HSCT. rupress.org/jhi/article/...

#immunodeficiencies

Not getting the nod: The case against Yao syndrome There are 30+ papers published on NOD2-autoinflammatory (Yao) syndrome. However, approximately one in five people is heterozygous for Yao-associated varian

One syndrome less !
Not getting the nod: The case against Yao syndrome url: rupress.org/jhi/article/...

Ghosh, Wang, Meiners, Hauck et al. describe a monoallelic dominant-negative PSMB10 variant that impairs immunoproteasome assembly & is associated with transient neonatal T #lymphopenia, highlighting a potentially dynamic & reversible form of early-life thymic dysfunction rupress.org/jhi/article/...

Stejara A. Netea et al. @amsterdamumc.bsky.social present an infant with #macrophage activation syndrome as part of #KawasakiDisease, who was first treated with #canakinumab, followed by #methylprednisolone and intravenous immunoglobulins. rupress.org/jhi/article/...

This letter on multigenerational #SOCS1 insufficiency from Cliodhna Murray et al. (Galway University Hospital) highlights diagnostic importance of considering monogenic immune dysregulation in complex allergic and #autoimmune diseases. rupress.org/jhi/article/...

#Atopy #Autoimmunity #Allergies

Response to recombinant human granulocyte colony-stimulating factor in reticular dysgenesis. New study from Manabu Wakamatsu, Megumu K. Saito @cira-ku.bsky.social, Hideki Muramatsu @en.nagoya-u.ac.jp and colleagues:
rupress.org/jhi/article/...

#immunodeficiencies

Not getting the nod: The case against Yao syndrome. A new Perspective by Paul E. Gray, @sethlucianmasters.bsky.social, and Edwin P. Kirk. rupress.org/jhi/article-...

#Autoimmunity #Autoinflammation #InbornErrorsOfImmunity

Publishing in JHI enables authors funded by National Institutes of Health (NIH), Howard Hughes Medical Institute (HHMI), and other funders an easy pathway to compliance. Learn more:
👉 rupress.org/pages/nih-hh...

Dominant-negative PSMB10 disrupts immunoproteasome assembly and leads to transient T #lymphopenia. New study from Sujal Ghosh (University Hospital Düsseldorf), Yuqin Wang, Silke Meiners @fzborstel.bsky.social, Fabian Hauck @lmu.de and colleagues:
rupress.org/jhi/article/...

@esidsociety.bsky.social

#KawasakiDisease complicated by #macrophage activation syndrome treated with #canakinumab. New study from Stejara A. Netea and colleagues @amsterdamumc.bsky.social:
rupress.org/jhi/article/...

#ClinicalPhenotypes #Therapeutics

Multigenerational SOCS1 insufficiency: Implications for the pathogenesis of allergic and autoimmune disease. New report from Cliodhna Murray (Galway University Hospital) and colleagues: rupress.org/jhi/article/...

#Autoimmunity #ClinicalPhenotypes #Atopy

Leiding, Keller et al. present their practical guide to diagnosis and treatment of chronic granulomatous disease, including the first comprehensive clinical protocol for treatment of CGD. rupress.org/jhi/article/...

#HowITreat #InbornErrorsOfImmunity

New review from Stuart G. Tangye provides an overview of the discoveries, origins, and complexities of CD21ˡᵒ B cells, and how studying inborn errors of immunity can provide a unique window to understand the molecular requirements for generating these cells. rupress.org/jhi/article/...

How I treat chronic granulomatous disease The authors present their practical guide to diagnosis and treatment of chronic granulomatous disease, including the first comprehensive clinical protocol

A thoughtful consensus on how to manage patients with CGD:

How I treat chronic granulomatous disease url: rupress.org/jhi/article/...

Human CD21loT-bet+ B cells: Not as easy as “ABC”! This Review provides an overview of the discoveries, origins, and complexities of CD21lo B cells, and how studying inborn errors of immunity can provide a

This is a thorough, critical, and superb Review of a complex and controversial human B cell subset, the famous "ABC" -- a must-read !👇

Human CD21loT-bet+ B cells: Not as easy as “ABC”! url: rupress.org/jhi/article/...

Stable genotype but transient phenotype ?
Dominant-negative PSMB10 disrupts immunoproteasome assembly and leads to transient T lymphopenia url: rupress.org/jhi/article/...

Monogenic lesions strike again:
Multigenerational SOCS1 insufficiency: Implications for the pathogenesis of allergic and autoimmune disease url: rupress.org/jhi/article/...

New hope for Kawasaki !
Kawasaki disease complicated by macrophage activation syndrome treated with canakinumab url: rupress.org/jhi/article/...

6/ Outside of science, @bogunoviclab.bsky.social loves dancing tango! He denied having a tango photo (I asked 😉) but did share a lovely one of his team below. Keep bringing your great passion to the dancefloor and to the lab, Dusan!