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Various medications and vaccines can cause serious side effects.

IVIG therapy significantly improved symptoms in a patient with APS-2 and SPS.

Patients with Shwachman-Diamond syndrome often get misdiagnosed due to a wide range of symptoms, including immune system problems and bone abnormalities.

Consider infectious diseases like visceral leishmaniasis before diagnosing autoimmune hepatitis.

The research suggests that Tourette syndrome is linked to both brain signaling and immune system pathways.

The study suggests that motor neurons created from stem cells of patients with spinal and bulbar muscular atrophy show signs of the disease, including changes in protein levels and cell functions.

A woman had meningitis caused by mixed connective tissue disease, not an infection.

Gomez–Lopez–Hernandez syndrome can cause focal hair loss and developmental delays but some children can still function well and excel in school and sports.

A new mutation in the TMEM173 gene and a risk allele in IFIH1 cause a unique set of immune-related symptoms.

A rare case of trichothiodystrophy was found with autism, seizures, and mental retardation.

A 16-year-old boy with lupus had a rare brain artery issue but fully recovered with treatment.

MCTD should be considered in children with recurring muscle issues, lupus-like symptoms, and edema.

Genetic analysis is crucial for diagnosing and managing cerebral arteriopathy.

Children with HIV often have skin problems that can indicate the severity of their immune system damage.

The same genetic mutation in Sjögren-Larsson syndrome can lead to different levels of severity, suggesting other factors influence the symptoms.

Accurate diagnosis of progressive supranuclear palsy requires thorough neurological assessments and MRI.

The research found that Atypical Progeroid Syndrome has unique symptoms and is not caused by the buildup of a certain mutant protein.

Certain genetic markers can indicate higher or lower risk for systemic lupus erythematosus.

Using cidofovir cream for a rare skin disease can cause skin darkening.

A child with trichothiodystrophy also had autoimmune thyroiditis and anemia, which is a new finding.

Tofacitinib effectively regrows hair in alopecia universalis triggered by a virus.

A new syndrome, Teelwani Syndrome, combines features of two rare genetic disorders.

Monoclonal antibodies LT-1, LT-2, and LT-7 help diagnose certain blood cancers.

A mutation in the hHb3 gene is linked to the hair disorder monilethrix.

H1 increases risk for neurodegenerative diseases, while H2 offers protection but is linked to other disorders.

A new genetic mutation linked to CARASIL syndrome and small artery disease was found in a Chinese family.

The document adds two cases of Gomez-Lopez-Hernandez syndrome and suggests including trigeminal anesthesia and scalp alopecia as key diagnostic criteria.

Mixed Connective Tissue Disease can develop from overlapping symptoms of several autoimmune diseases, making diagnosis complex.

A TNFAIP3 gene mutation can cause unusual and varied symptoms of lupus and Sjogren's syndrome.

A deficiency in the TTC7A gene causes immune problems, gut issues, and hair loss.