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IntroductionThe T cell receptor excision circle (TREC) assay is an effective neonatal screening tool for severe combined immunodeficiency (SCID), enabling early diagnosis and timely intervention. While genetic analysis o...

IntroductionIndividuals with inborn errors of immunity (IEI) are increasingly reaching reproductive age, yet guidance on fertility preservation, genetic counseling, medication adjustments in pregnancy and breastfeeding, ...

The nuclear factor kappa light-chain enhancer of activated B cells (NFKB1) pathway is a central regulator of inflammatory gene expression. NFKB1 haploinsufficiency can present with common variable immunodeficiency (CVID)...

Dosing immunoglobulin G (IgG) replacement therapy in primary immunodeficiency disease (PIDD) depends on IgG pharmacokinetics (PK) and patients’ clinical status. Conventionally, PK data used to determine dosing were bas...

S-adenosylhomocysteine (SAH) hydrolase deficiency is a rare autosomal recessive disorder caused by pathogenic variants of the gene AHCY. Loss of SAH hydrolase causes SAH accumulation and impairs the methionine/S-adenosyl...

BackgroundPatients with acute myeloid leukemia (AML) and prolonged neutropenia are at high risk for invasive fungal infections such as fusariosis, which represents the second most common pathogenic mold infection in this...

IntroductionIncreased risk of infections in patients with hematological malignancies (HM) is a growing concern. Immunoglobulin-replacement therapy (IgRT) is used to reduce infection risk in patients who develop secondary...

IntroductionRNU4ATAC-opathies are characterized by biallelic pathogenic variants and include three recognized phenotypes: autosomal recessive Roifman syndrome, microcephalic osteodysplastic primordial dwarfism (MOPD), an...

Reticular dysgenesis (RD) is a rare, severe form of severe combined immunodeficiency (SCID) caused by biallelic AK2 mutations, leading to profound defects in lymphoid and myeloid maturation. Unlike other SCID phenotypes,...

IntroductionOSMR encodes oncostatin M receptor beta (OSMRβ), a cell surface receptor of the gp130 family that binds OSM and IL-31, and is highly expressed on fibroblasts. The gp130 family comprises signaling proteins, m...

IntroductionMacrophage activation syndrome (MAS) is a rare, potentially fatal hyperinflammatory complication of autoimmune disease, characterized by fever, cytopenias, hyperferritinemia, and multiorgan involvement (1). I...

BackgroundCommon variable immunodeficiency (CVID) is diagnosed at ages ≥4 years with hypogammaglobulinemia across more than two immunoglobulin classes, leading to impaired vaccine responses, frequent infectious, autoim...

ASCENIV is a 10% intravenous immune globulin (IVIG) indicated for the treatment of primary humoral immunodeficiency (PI) in adults and adolescents (12 to 17 years of age). ASCENIV contains a blend of normal source plasma...

BackgroundDown syndrome (DS) is associated with chronic hyperactivation of interferon signaling and downstream Janus kinase (JAK) and STAT pathways, contributing to increased susceptibility to autoimmunity, autoinflammat...

Background and Literature ReviewHypereosinophilic syndrome (HES) is a rare, heterogeneous group of disorders defined by persistent hypereosinophilia (>1,500 cells/µL) with eosinophil-mediated end-organ damage. Its estim...

Background22q11.2 deletion syndrome (22q11.2DS, also known as DiGeorge) affects 1/2,150 individuals. The deletion results in variable clinical phenotypes: thymic hypoplasia or aplasia, hypoparathyroidism, cardiac defects...

IntroductionHyper-IgM syndrome (HIGM) is a rare primary immunodeficiency characterized by impaired immunoglobulin class-switch recombination, most commonly due to mutations in the CD40 ligand (CD40L) gene. Affected patie...

Clinical PresentationPatients with germline TET2 loss of function exhibit a syndrome of immunodeficiency, autoimmune lymphoproliferation, developmental delay, and predisposition to lymphoma. An 8-week-old infant was admi...

BackgroundRegulator of telomere elongation helicase 1 (RTEL1) is a gene that encodes a DNA helicase crucial for DNA repair and telomere maintenance. It belongs to a family of genes associated with telomere biology disord...

We describe two Turkish patients with tyrosine kinase 2 (TYK2) deficiency who experienced recurrent infections ranging from viral to bacterial and intracellular pathogens.Case 1An 8-year-old male patient was first admitt...

IntroductionHypogammaglobinemia in pregnancy can be an expected physiological change, resulting from hemodilution and active transfer of immunoglobulins to the fetus via the placenta. However, pregnancy can also reveal p...

Serum sickness is an immune complex-mediated hypersensitivity reaction, classically manifested by the triad of fever, rash, and arthralgias. It results from the formation and deposition of antigen–antibody complexes, l...

IntroductionHyperuricemia, pulmonary hypertension, renal failure, alkalosis (HUPRA) syndrome is a mitochondrial disease caused by mutations in SARS2 (seryl-tRNA synthetase 2), which plays a role in protein synthesis. Lim...

A 12-day-old full-term (FT) male presented with one day of diarrhea and respiratory distress. The exam was notable for hypothermia, tachycardia, and hypoxemia. Initial bloodwork showed leukopenia (3,400 cells/uL, absolut...