J Clin Immunol. 2025 Mar 17;45(1):82. doi: 10.1007/s10875-025-01874-2. ABSTRACT Selective anti-polysaccharide antibody deficiency (SPAD) predisposes to encapsulated bacterial infections. The diagnosis is challenging, and literature reports are scarce in adult patients, we therefore aim to describe the demographics, infectious complications, therapeutic strategies, and outcome of adult patients. We conducted a multicenter observational study involving 55 … Read more

J Clin Immunol. 2025 Mar 17;45(1):83. doi: 10.1007/s10875-025-01876-0. ABSTRACT PURPOSE: Deficiency of adenosine deaminase 2 (DADA2) is a rare monogenic autoinflammatory disease resulting from biallelic loss-of-function mutations in ADA2 gene. It has variable clinical manifestations, some of which can mimic Behçet’s disease (BD). Herein, we present a family of three siblings diagnosed with DADA2, two … Read more

J Clin Immunol. 2025 Mar 14;45(1):81. doi: 10.1007/s10875-025-01862-6. ABSTRACT PURPOSE: To investigate the efficacy, safety, tolerability, and serum IgG trough levels of hyaluronidase-facilitated subcutaneous immunoglobulin (fSCIG) 10% in US pediatric patients with primary immunodeficiency diseases (PIDDs). METHODS: This phase 3, open-label, prospective study (NCT03277313) was conducted at 17 US centers. Eligible patients aged 2 to … Read more

J Clin Immunol. 2025 Mar 11;45(1):80. doi: 10.1007/s10875-025-01870-6. NO ABSTRACT PMID:40067421 | DOI:10.1007/s10875-025-01870-6

J Clin Immunol. 2025 Feb 27;45(1):79. doi: 10.1007/s10875-025-01868-0. NO ABSTRACT PMID:40014213 | DOI:10.1007/s10875-025-01868-0

J Clin Immunol. 2025 Feb 25;45(1):78. doi: 10.1007/s10875-025-01872-4. ABSTRACT PURPOSE: B-cell expansion with nuclear factor kappa B and T-cell anergy (BENTA) is an inborn error of immunity characterized by congenital polyclonal B-cell lymphocyte expansion. In this report, we present a case of a girl diagnosed with BENTA carrying a novel CARD11 germline mutation, aiming to … Read more

J Clin Immunol. 2025 Feb 20;45(1):77. doi: 10.1007/s10875-025-01871-5. ABSTRACT PURPOSE: GATA2 deficiency, a rare inborn error of immunity, presents with highly variable phenotypes. Bone marrow (BM) changes such as hypocellularity and myelodysplastic syndrome (MDS) are common, with hematopoietic stem cell transplantation being the only curative option due to the risk of progression to acute myeloid … Read more

J Clin Immunol. 2025 Feb 20;45(1):76. doi: 10.1007/s10875-025-01866-2. ABSTRACT Deficiency in ELF4, X-linked (DEX) is a newly identified monogenic autoinflammatory disease. Most reported cases are male, leading to the recognition of DEX being primarily limited to male patients. Here we described 3 pediatric female patients with DEX from 3 unrelated families, who are all heterozygous … Read more

J Clin Immunol. 2025 Feb 13;45(1):75. doi: 10.1007/s10875-025-01858-2. ABSTRACT Human inborn errors of immunity (IEI) represent a diverse group of genetic disorders affecting the innate and/or adaptive immune system. Some IEI entities comprise defects in DNA repair factors, resulting in (severe) combined immunodeficiencies, bone marrow failure, predisposition to malignancies, and potentially resulting in radiosensitivity (RS). … Read more

J Clin Immunol. 2025 Feb 11;45(1):74. doi: 10.1007/s10875-025-01863-5. ABSTRACT Reticular dysgenesis (RD) is a rare inborn error of immune cell formation defined by severe combined immunodeficiency, agranulocytosis and sensorineural deafness. We report a case of successful haploidentical maternal hematopoietic stem cell transplantation (HSCT) in a boy with RD detected by TREC newborn screening. The patient … Read more