Out in @CellCellPress today! We describe the first humans with inherited, complete FLT3L deficiency. Despite a lack of most dendritic cells, they reached adulthood. See the thread below for the main highlights of our paper.

RT @jhumimmunity: Materna, @BeziatV et al. @institutimagine report children with complete TCRα deficiency, a lack of αβ T cells, & a severe….

Thank you to all the fantastic collaborators involved in this story. @casanova_lab, @BustamanteJaci1 @ParvanehNima @ManaMomenilandi, and all not on X, in particular Marie Materna, Simin Seyedpour, Tom Le Voyer, Niloufar Yazdanpanah, Mohammad Shahrooei and Nima Rezaie.

Please consider submitting your work to @jhumimmunity, the novel journal of the “Inborn Error of Immunity” community. It is published by the nonprofit @RockUPress.

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🧩 Conclusion:.The absence of ⍺β T cells is sufficient to cause SCID. γδ T cells and other leukocytes cannot compensate for this loss.

🧬 Our molecular data show:.• New variants = complete loss-of-function → total absence of ⍺β T cells.• Original c. 1G>A variant = partial loss-of-function → low TCR⍺β expression & unconventional ⍺β T cells, explaining longer survival without transplant.

In our study, we report 2 patients from unrelated families with novel TCR⍺ variants. Unlike earlier cases, they presented with severe combined immunodeficiency and early, life-threatening infections.

This suggested that lacking ⍺β T cells results “only” in combined immunodeficiency (CID), not severe combined immunodeficiency (SCID)—likely due to compensation by γδ T cells.

Previously, TCR⍺ deficiency was reported in 5 patients from 3 kindreds, all carrying the same variant (c. 1G>A). Despite the absence of conventional ⍺β T cells, these patients survived into childhood without early transplant. 📖

🚨 Our first paper in @jhumimmunity just came out!.We describe two forms of TCR⍺ deficiency: a complete and a partial form. 👉

RT @BogunovicLab: What Happens When Some Cells Are More Dad Than Mom (and Vice Versa)? .Latest from us. Published today. News here https://….

RT @alqurefa: 1/ I am excited to share our new paper from @casanova_lab published today in @JExpMed about humans with autosomal dominant IF….

RT @carlosarangof: 1/ I am thrilled to share my main PhD project, conducted at @casanova_lab under the supervision of @anne_puel, just publ….

RT @anne_puel: 1/ Thrilled to share our latest publication in @JCI on humans with inherited IL7 deficiency! 🧵👇

RT @JRosain: 1/ Excited to report in @JExpMed more about the causes and consequences of human autoantibodies neutralizing type I IFNs throu….

RT @anne_puel: 1/ Excited to share our latest publication in @PNASNews! We report two patients with autosomal recessive RelB deficiency. Ch….

RT @Jonathan_Bohlen: We report deleterious UNC93B1 variants as the cause of lupus in ~8% of kindreds in the @crow_lab cohort. These variant….

RT @LaskerFDN: Scientists describe 3 patients with FMS-related tyrosine kinase 3 ligand (FLT3L) deficiency. Interestingly, FLT3L deficienc….

RT @MiriamMerad: Congratulation to @beziatv et al. for a tour de force study showing that Flt3L deficiency strongly affects adult hematopo….

RT @Tangye_Lab: What does FLT3L do in humans? Here’s the answer(s)!! Stunning work by @ManaMomenilandi @casanova_lab @BeziatV. Thrilled to….

RT @MildnerLab: Another great example that mouse hematopoiesis does not necessarily reflect the situation in humans: FLT3L regulates #monoc….