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Diverse Clinical and Immunological Profiles in Patients with IPEX Syndrome: a Multicenter Analysis from Turkey
Diverse Clinical and Immunological Profiles in Patients with IPEX Syndrome: a Multicenter Analysis from Turkey
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Diverse Clinical and Immunological Profiles in Patients with IPEX Syndrome: a Multicenter Analysis from Turkey

Bekis Bozkurt, Hayrunnisa ; Bayram Catak, Feyza ; Sahin, Ali ; Yalcin Gungoren, Ezgi ; Gemici Karaarslan, Betul ; Yakici, Nalan ; Yorgun Altunbas, Melek ; Catak, Mehmet Cihangir ; Can, Salim ; Amirov, Razin ; Bozkurt, Selcen ; Ozturk, Necmiye ; Bilgic Eltan, Sevgi ; Kasap, Nurhan ; Bal Cetinkaya, Fatma ; Orhan, Fazil ; Arga, Mustafa ; Cavkaytar, Ozlem ; Kiykim, Ayca ; Karakoc-Aydiner, Elif ; Ozen, Ahmet ; Baris, Safa

Journal of clinical immunology, 2025-12, Vol.45 (1), p.9 [Periódico revisado por pares]

New York: Springer US

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2
HSCT in a Patient with Cernunnos/XLF Deficiency and Omenn Syndrome
HSCT in a Patient with Cernunnos/XLF Deficiency and Omenn Syndrome
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HSCT in a Patient with Cernunnos/XLF Deficiency and Omenn Syndrome

Chbihi, Marwa ; Nabhan, Léa ; Pinton, Antoine ; Drabent, Philippe ; de Villartay, Jean-Pierre ; Neven, Bénédicte

Journal of clinical immunology, 2025-12, Vol.45 (1), p.5 [Periódico revisado por pares]

New York: Springer US

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3
Hyperferritinemia Screening to Aid Identification and Differentiation of Patients with Hyperinflammatory Disorders
Hyperferritinemia Screening to Aid Identification and Differentiation of Patients with Hyperinflammatory Disorders
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Hyperferritinemia Screening to Aid Identification and Differentiation of Patients with Hyperinflammatory Disorders

Carol, Hallie A. ; Mayer, Adam S. ; Zhang, Michael S. ; Dang, Vinh ; Varghese, Jemy ; Martinez, Zachary ; Schneider, Corinne ; Baker, Joy (Elizabeth) ; Tsoukas, Paul ; Behrens, Edward M. ; Cron, Randy Q. ; Diorio, Caroline ; Henderson, Lauren A. ; Schulert, Grant ; Lee, Pui ; Kernan, Kate F. ; Canna, Scott W.

Journal of clinical immunology, 2025-12, Vol.45 (1), p.4 [Periódico revisado por pares]

New York: Springer US

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4
Successful Haematopoietic Stem Cell Transplantation for LRBA Deficiency with Fludarabine, Treosulfan, and Thiotepa-Based Conditioning
Successful Haematopoietic Stem Cell Transplantation for LRBA Deficiency with Fludarabine, Treosulfan, and Thiotepa-Based Conditioning
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Successful Haematopoietic Stem Cell Transplantation for LRBA Deficiency with Fludarabine, Treosulfan, and Thiotepa-Based Conditioning

Shadur, Bella ; NasserEddin, Adeeb ; Zaidman, Irina ; Schejter, Yael Dinur ; Even-Or, Ehud ; Berkun, Yackov ; Meyts, Isabelle ; Hmedat, Hatem ; Sulaiman, Ashraf ; Tangye, Stuart G. ; Stepensky, Polina

Journal of clinical immunology, 2025-12, Vol.45 (1), p.3 [Periódico revisado por pares]

New York: Springer US

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5
Uniparental Disomy of Chromosome 4: A Case of Whole Chromosome UPD Presenting with LRBA Deficiency
Uniparental Disomy of Chromosome 4: A Case of Whole Chromosome UPD Presenting with LRBA Deficiency
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Uniparental Disomy of Chromosome 4: A Case of Whole Chromosome UPD Presenting with LRBA Deficiency

Ak, Bilgesu ; Parıltay, Erhan ; Gümüşburun, Reyhan ; Dalgıç, Ceyda Tunakan ; Aykut, Ayça ; Durmaz, Asude ; Akın, Haluk ; Ardeniz, Ömür ; Lo, Bernice

Journal of clinical immunology, 2025-12, Vol.45 (1), p.10 [Periódico revisado por pares]

New York: Springer US

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6
Successful Long-Term Enzyme Replacement Therapy in a Patient with Delayed-Onset ADA Deficiency
Successful Long-Term Enzyme Replacement Therapy in a Patient with Delayed-Onset ADA Deficiency
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Successful Long-Term Enzyme Replacement Therapy in a Patient with Delayed-Onset ADA Deficiency

Toskov, Vasil ; Bali, Pawan ; Hershfield, Michael S. ; Ehl, Stephan ; Speckmann, Carsten

Journal of clinical immunology, 2025-12, Vol.45 (1), p.8 [Periódico revisado por pares]

New York: Springer US

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7
Correction to: A Novel Case of IFNAR1 Deficiency Identified a Common Canonical Splice Site Variant in DOCK8 in Western Polynesia: The Importance of Validating Variants of Unknown Significance in Under-Represented Ancestries
Correction to: A Novel Case of IFNAR1 Deficiency Identified a Common Canonical Splice Site Variant in DOCK8 in Western Polynesia: The Importance of Validating Variants of Unknown Significance in Under-Represented Ancestries
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Correction to: A Novel Case of IFNAR1 Deficiency Identified a Common Canonical Splice Site Variant in DOCK8 in Western Polynesia: The Importance of Validating Variants of Unknown Significance in Under-Represented Ancestries

Huynh, Aimee ; E Gray, Paul ; Sullivan, Anna ; Mackie, Joseph ; Guerin, Antoine ; Rao, Geetha ; Pathmanandavel, Karrnan ; Della Mina, Erika ; Hollway, Georgina ; Hobbs, Matthew ; Enthoven, Karen ; O’Young, Patrick ; McManus, Sam ; H. Wainwright, Luke ; Higgins, Megan ; Noon, Fallon ; Wong, Melanie ; Bastard, Paul ; Zhang, Qian ; Casanova, Jean-Laurent ; Hsiao, Kuang-Chih ; Pinzon-Charry, Alberto ; S Ma, Cindy ; G. Tangye, Stuart

Journal of clinical immunology, 2025-12, Vol.45 (1), p.11 [Periódico revisado por pares]

New York: Springer US

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8
Successful Allogeneic Hematopoietic Cell Transplantation for Patients with IL10RA Deficiency in Japan
Successful Allogeneic Hematopoietic Cell Transplantation for Patients with IL10RA Deficiency in Japan
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Successful Allogeneic Hematopoietic Cell Transplantation for Patients with IL10RA Deficiency in Japan

Tomomasa, Dan ; Suzuki, Tasuku ; Takeuchi, Ichiro ; Goto, Kimitoshi ; Hagiwara, Shin-Ichiro ; Keino, Dai ; Saida, Satoshi ; Ishige, Takashi ; Kudo, Takahiro ; Eguchi, Katsuhide ; Ishimura, Masataka ; Matsuda, Yusuke ; Wada, Taizo ; Ito, Yoshiya ; Kato, Motohiro ; Sasahara, Yoji ; Morio, Tomohiro ; Arai, Katsuhiro ; Uhlig, Holm H ; Kanegane, Hirokazu

Journal of clinical immunology, 2025-12, Vol.45 (1), p.6 [Periódico revisado por pares]

New York: Springer US

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9
Abnormal Immune Profile in Individuals with Kabuki Syndrome
Abnormal Immune Profile in Individuals with Kabuki Syndrome
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Abnormal Immune Profile in Individuals with Kabuki Syndrome

Comel, Margot ; Saad, Norma ; Sil, Debapratim ; Apparailly, Florence ; Willems, Marjolaine ; Djouad, Farida ; Andrau, Jean-Christophe ; Lozano, Claire ; Genevieve, David

Journal of clinical immunology, 2025-12, Vol.45 (1), p.7 [Periódico revisado por pares]

New York: Springer US

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10
Progressive Encephalomyelitis with Rigidity and Myoclonus (PERM) Associated with GlyR Antibody in an APECED Patient
Progressive Encephalomyelitis with Rigidity and Myoclonus (PERM) Associated with GlyR Antibody in an APECED Patient
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Progressive Encephalomyelitis with Rigidity and Myoclonus (PERM) Associated with GlyR Antibody in an APECED Patient

Ochoa, Sebastian ; Waters, Patrick ; Vieillard, Eléonore ; Soldatos, Ariane ; Leite, M Isabel ; Lionakis, Michail S

Journal of clinical immunology, 2025-12, Vol.45 (1), p.2 [Periódico revisado por pares]

New York: Springer US

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