Individuals with JAK1 variants are affected by syndromic features encompassing autoimmunity, atopy, colitis, and dermatitis.

Inborn errors of immunity lead to autoimmunity, inflammation, allergy, infection, and/or malignancy. Disease-causing JAK1 gain-of-function (GoF) mutations are considered exceedingly rare and have been identified in only four families. Here, we use forward and reverse genetics to identify 59 individuals harboring one of four heterozygous JAK1 variants.

TCF3 haploinsufficiency defined by immune, clinical, gene-dosage, and murine studies.

Background: TCF3 is a transcription factor contributing to early lymphocyte differentiation. Germline monoallelic dominant negative and biallelic loss-of-function (LOF) null TCF3 mutations cause a fully penetrant severe immunodeficiency. We identified 8 individuals from 7 unrelated families with monoallelic LOF TCF3 variants presenting with immunodeficiency with incomplete clinical penetrance.

Kleefstra syndrome: Impact on parents.

Background: Kleefstra syndrome (KS) is associated with developmental delay, autism, intellectual disability, psychosis, and regression. Research has not been conducted to assess the impact of KS on parents.

Objective/hypothesis: A mixed-method study was conducted to assess the impact on parental well-being by evaluating parents' well-being, identifying factors of parental experience predicting well-being, and exploring the parental experience.

Mutation Causes Ectodermal Dysplasia in a Patient Mosaic for Turner Syndrome.

plays a role in the proper proliferation and differentiation of ectodermal structures. Mutations in this gene can be responsible for a highly phenotypically variable range of disorders termed . Here, we describe the case of a five-year-old male patient who is mosaic for Turner syndrome (45,X [90%]/46,X isodicentric Y [10%]) and who presented to dermatology with anhidrosis, conical-shaped teeth, and a slowed rate of hair growth with genetic testing subsequently revealing a likely pathogenic heterozygous variant in (c.