A brief summary of Pneumocystis jirovecii (PJ) biology and epidemiology: PJ is an ascomycete fungus, characterized by strong tropism for lungs and airborne host-to-host transmission. It is the major cause of Pneumocystis Pneumonia (PCP) in immunocompromised patients with HIV/AIDS, cancer patients, in patients undergoing bone marrow transplantation (BMT) and solid organ transplantation, patients with autoimmune disorders, and in infants with HyperIgM (HIgM) syndrome, an X-linked or autosomal recessive genetic primary immunodeficiency disorder caused by mutations in the CD40LG ligand gene on the X- chromosome that prevents T-cells from signaling B-cells to switch antibody production to IgG, IgA, and IgE, resulting in severe opportunistic infections.

CD40 Deficiency 🧬 (Hyper-IgM Syndrome type 3) 🔹 Genetics: Autosomal recessive mutation in CD40 gene 🧪 → defective B-cell isotype switching 🔹 Immunity: ↓ IgG & IgA, normal/high IgM 📉📈 🔹 Presentation: Recurrent sinopulmonary 🌬️ & opportunistic infections (PCP, Cryptosporidium 💧), chronic diarrhea, liver disease 🔹 Labs: Low switched memory B-cells, absent germinal centers 🧫 🔹 Treatment: Lifelong IVIG/SCIG 💉, PJP prophylaxis 🛡️, avoid live vaccines 🚫 🔹 Curative: Allo-HSCT 🩸 (prefer early before liver damage) 🔹 Complications: Sclerosing cholangitis, chronic lung disease ⚠️ 📚 Notarangelo LD J Allergy Clin Immunol 2020 | EBMT PID Guidelines 2023 #PID #HyperIgM #CD40 #HSCT

Exciting news! 🎉 The @HyperIgM Foundation proudly presents their latest Podcast series, "Patient Voices," led by their very own 15-year-old #HyperIgM patient, Ezra Fineman. Dive into the inaugural episode on YouTube here: youtu.be/_jmXWluYNos?si=meYb…

Management of SCIDs, management of HyperIgM … and a new approach of the warming signs across medical specialities 🙌 Thanks to everyone involved in this work! 🙏🏻👏👏👏🙂

On this @rarediseaseday it’s important to remember that for our patients these 🦓 disorders are not rare it’s their everyday. Help us raise awareness and fund research for our patients with #IEI @IDFCommunity @Info4PI @HyperIgM and more.

Meet Hayliana, a tiny warrior with a giant spirit who faced a rare disorder called #hyperIgM. After a blood stem cell transplant from dad, she's getting back to her Sesame Street tunes while her parents boost our registry to help other little warriors 👉 bit.ly/46QYeav

Join Brittany Hinman 12/5 @ 8 pm EST to learn about life after her son’s successful BMT & how she turned her trials w CGD into talent as a photographer. Email us at info@cgdaa.org for the Zoom invitation. All are welcome! @CGDSociety @remember_girls @IDFCommunity @HyperIgM

Today we are glad to report our effort to develop a GMP compliant protocol exploiting #CRISPR #editing in human T cells for the treatment of #HyperIgM syndrome. Learn more here: cell.com/molecular-therapy-f… @NaldiniLab

Under the care of our experts, 2-year-old Ari Chambers-Baltz is preparing to receive a lifesaving #bonemarrowtransplant to treat his #HyperIgM syndrome. “We just are praying this is what cures him,” said Ari’s mom, Stephanie. Watch their story on @WCCO. ➡️ bit.ly/3IYZHC5

Happy to be invited to speak at Primary Immune Deficiency Treatment Consortium’s Annual Scientific Workshop on 4/18- 4/20 to discuss CGD and PI. Looking forward to connecting w/ friends & colleagues in Cincy! @Info4PI @SCIDAngels @HyperIgM @IDFCommunity @JenLeidingMD

What a fascinating case of HyperIgM and acquired C1q deficiency in the same patient. TY for sharing this case report as it highlights the importance of #rarediseases and #immundeficiencies @raredisorders @RareDiseases @Info4PI @ImmUnityCanada #MedTwitter

Thanks for the opportunity @ShivGaglani. We managed to talk about the power of science, communities, & koalas. Shout outs to our pals @cziscience, @mikeporath, @DavidFajgenbaum, @HyperIgM, @KidsAtColumbia, & of course @KIF1A #RareAsOne. A great conversation, thanks again Chiv.

I've not seen my father since Christmas 2019 as I have #HyperIgM so I'm still shielding. Working from home full time, missing out on my workplace. No social life. No hope, no future that I can enjoy. #Evusheld was my biggest hope.

Immunodeficiency with hyper-IgM (HIM) is a rare primary immunodeficiency characterized by the production of normal to increased amount of IgM antibody of questionable quality and an inability to produce sufficient quantities of IgG and IgA. #immunology #Immunodeficiency #hyperIgM

Incredible presentations about community building, advocacy, research from @Info4PI, SCID Angels, @IDFCommunity, CGD Association of America, Wiskott Aldrich Foundation, and @HyperIgM. The patients, parents, and families are why we work on immune deficiencies #pidtc2021

“A lot of times you will meet someone along the way in your journey that is not the right fit for you.” - @akizab, @HyperIgM President, during the #LivingRareForum session, "Shared Decision Making with Your Care Team."

Modeling, optimization, and comparable efficacy of #Tcell and #HematopoieticStemCell #GeneEditing for treating #HyperIgM syndrome By L. Naldini, P. Genovese and colleagues @NaldiniLab @MyUniSR -> Read #openaccess: doi.org/10.15252/emmm.202013…

@emilyvgordon @emmye1984 @garyvee @kumailn @ChrisCuomo @audrey_seitz @MACattackLab @myCVIDlife @weslynkris @wolfgarden1 @HyperIgM @PIDCompetence @Primary_Immune @matthewjkan @PatientWorthy @TheMightySite @Rare_Is_Special 😷won't you please RT this important message! #wearamask 😷

Please click on the link below and read about my friend Bryce who was recently diagnosed with Hyper IgM. I'm raising money to help with his medical expenses. For every $100 raised I will cut off an inch of hair. givebutter.com/GoingBaldforB… @BeTheMatchNE @HyperIgM

Please take the time to click on the link below and read about my friend Bryce who was recently diagnosed with Hyper IgM. I'm raising money to help with his medical expenses. For every $100 raised I will cut off an inch of hair. givebutter.com/GoingBaldforB… @bethematch @HyperIgM