Our Impact

Joint Publications

Joint Publications 2022:

Novel CD55 Mutation Associated With Severe Small Bowel Ulceration Mimicking Inflammatory Bowel Disease in a Pair of Siblings

Inflamm Bowel Dis. 2022 Sep 1;28(9):1458-1461. doi: 10.1093/ibd/izac001.

Voranush Chongsrisawat, Narissara Suratannon, Pantipa Chatchatee, Rungnapa Ittiwut, Chupong Ittiwut, Wanlapa Weerapakorn, Apiradee Theamboonlers, Meino Rohlfs, Christoph Klein, Daniel Kotlarz, Kanya Suphapeetiporn

HAX1-dependent control of mitochondrial proteostasis governs neutrophil granulocyte differentiation.

J Clin Invest. 2022 May 2;132(9):e153153. doi: 10.1172/JCI153153.PMID: 35499078 Free PMC article.

Fan Y, Murgia M, Linder MI, Mizoguchi Y, Wang C, Łyszkiewicz M, Ziȩtara N, Liu Y, Frenz S, Sciuccati G, Partida-Gaytan A, Alizadeh Z, Rezaei N, Rehling P, Dennerlein S, Mann M, Klein C.

Human genetic defects in SRP19 and SRPRA cause severe congenital neutropenia with distinctive proteome changes

Blood. 2022 Oct 11;blood.2022016783. doi: 10.1182/blood.2022016783. Online ahead of print.

Monika I Linder, Yoko Mizoguchi, Sebastian Hesse, Gergely Csaba, Megumi Tatematsu, Marcin Łyszkiewicz, Natalia Zietara, Tim Jeske, Maximilian Hastreiter, Meino Rohlfs, Yanshan Liu, Piotr Grabowski, Kaarin Ahomaa, Daniela Maier-Begandt, Marko Schwestka, Vahid Pazhakh, Abdulsalam Isiaku, Brenda Briones Miranda, Piers Blombery, Megumu K Saito, Ejona Rusha, Zahra Alizadeh, Zahra Pourpak, Masao Kobayashi, Nima Rezaei, Ekrem Unal, Fabian Hauck, Micha Drukker, Barbara Walzog, Juri Rappsilber, Ralf Zimmer, Graham J Lieschke, Christoph Klein

Human MD2 deficiency-an inborn error of immunity with pleiotropic features.

J Allergy Clin Immunol. 2022 Nov 23:S0091-6749(22)01372-0. doi: 10.1016/j.jaci.2022.09.033. Online ahead of print.PMID: 36462957

Li Y, Yu Z, Schenk M, Lagovsky I, Illig D, Walz C, Rohlfs M, Conca R, Muise AM, Snapper SB, Uhlig HH, Garty BZ, Klein C, Kotlarz D.

Pathogenic Interleukin-10 Receptor Alpha Variants in Humans – Balancing Natural Selection and Clinical Implications.

J Clin Immunol. 2022 Nov 12. doi: 10.1007/s10875-022-01366-7. Online ahead of print.PMID: 36370291

Aschenbrenner D, Ye Z, Zhou Y, Hu W, Brooks I, Williams I, Capitani M, Gartner L, Kotlarz D, Snapper SB, Klein C, Muise AM, Marsden BD, Huang Y, Uhlig HH.

The 2022 Update of IUIS Phenotypical Classification for Human Inborn Errors of Immunity.

J Clin Immunol. 2022 Oct;42(7):1508-1520. doi: 10.1007/s10875-022-01352-z. Epub 2022 Oct 6.PMID: 36198931

Bousfiha A, Moundir A, Tangye SG, Picard C, Jeddane L, Al-Herz W, Rundles CC, Franco JL, Holland SM, Klein C, Morio T, Oksenhendler E, Puel A, Puck J, Seppänen MRJ, Somech R, Su HC, Sullivan KE, Torgerson TR, Meyts I.

The Mutation of CD27 Deficiency Presented With Familial Hodgkin Lymphoma and a Review of the Literature.

J Pediatr Hematol Oncol. 2022 May 1;44(4):e833-e843. doi: 10.1097/MPH.0000000000002453. Epub 2022 Apr 6.PMID: 35398861 Review.

Köse D, Güzelçiçek A, Öz Ö, Erdem AY, Haliloğlu Y, Witzel M, Klein C, Ünal E.

Clinical Phenotypes and Outcomes in Monogenic Versus Non-monogenic Very Early Onset Inflammatory Bowel Disease.

J Crohns Colitis. 2022 Sep 8;16(9):1380-1396. doi: 10.1093/ecco-jcc/jjac045.PMID: 35366317

Collen LV, Kim DY, Field M, Okoroafor I, Saccocia G, Whitcomb SD, Green J, Dong MD, Barends J, Carey B, Weatherly ME; Regeneron Genetics centre, Rockowitz S, Sliz P, Liu E, Eran A, Grushkin-Lerner L, Bousvaros A, Muise AM, Klein C, Mitsialis V, Ouahed J, Snapper SB.

Valosin-containing protein-regulated endoplasmic reticulum stress causes NOD2-dependent inflammatory responses.

Sci Rep. 2022 Mar 10;12(1):3906. doi: 10.1038/s41598-022-07804-1.PMID: 35273242

Ghalandary M, Li Y, Fröhlich T, Magg T, Liu Y, Rohlfs M, Hollizeck S, Conca R, Schwerd T, Uhlig HH, Bufler P, Koletzko S, Muise AM, Snapper SB, Hauck F, Klein C, Kotlarz D.

Severe congenital neutropenia due to G6PC3 deficiency: Case series of five patients and literature review.

Scand J Immunol. 2022 Apr;95(4):e13136. doi: 10.1111/sji.13136. Epub 2022 Jan 19.PMID: 34964150

Velez-Tirado N, Yamazaki-Nakashimada MA, Lopez Valentín E, Partida-Gaytan A, Scheffler-Mendoza SC, Chaia Semerena GM, Alvarez-Cardona A, Suárez Gutiérrez MA, Medina Torres EA, Baeza Capetillo P, Hirschmugl T, Garncarz W, Espinosa-Padilla SE, Aguirre Hernández J, Klein C, Boztug K, Lugo Reyes SO.

A selection of our joint publications can be found here: https://www.ten-for-rare.com/english/research/papers/

Ten for Rare


  • recruited and performed whole- exome sequencing (WES) or whole genome sequencing (WGS) on >1,750 VEOIBD patients.
  • assigned definitive genetic diagnoses for >200 VEOIBD patients with >100 unique gene mutations identified. 
  • identified 21 new monogenic diseases that include manifestations of VEOIBD: identified 7 epithelial and 18 immune novel VEOIBD genes. 
  • identified mosaicism as a disease mechanism in VEOIBD.
  • suggested definitive therapies in > 75 VEOIBD patients, including curative hematopoietic stem cell transplants. 
  • established collaborations with >250 physicians and patient-care givers.
  • published >155 peer reviewed VEOIBD-related scientific articles, including 4 foundational “standard of care” publications.
  • employed the VEOIBD Consortium’s website to increase global awareness of our mission, generating 121 VEOIBD patient referrals. 
  • identified potential novel therapeutic solutions for unique forms of VEOIBD.
PIs of the VEO-IBD network at a strategic meeting in Munich, 2015

“The Care-for-Rare Foundation provides a unique framework for us to further our work identifying the genetics causes of VEOIBD. We hope this will push our understanding of disease and eventually new cures for severly sick patients. The Care-for-Rare Foundation has done an amazing job bringing together clinicians and scientists from around the world to push this forward.”

Co-Director, IBD Centre, Hospital for Sick Children, University of Toronto, Canada

“The  Helmsley Charitable Trust supports the Care-for-Rare Foundation as part of a worldwide initiative to help children with early onset Inflammatory Bowel Disease. Our funds both help children and their families who are in dire need, and may also unlock clues to the disease to help develop new treatments and a cure for everyone with IBD. Dr. Klein and his team are connected to medical centers across the world, bringing hope to many children and their parents.”

Sandor Frankel, Trustee
The Leona M. and Harry B. Helmsley Charitable Trust