Immunodeficiency 1
Babies with this X-linked recessive disease have recurrent infections with all types of organisms and no palpable lymph nodes.
What is severe combined immunodeficiency?
(Most common mutation is IL-2Ry chain)
This is an important blood test to order prior to administering IVIG for the first time?
What is serum IgA levels?
These are part of the triple association with NF1.
NF1, juvenile xanthogranulomas, and juvenile chronic myelogenous leukemia.
Tuberin and hamartin form a complex that has this function.
What is inhibition of downstream effectors of mTOR?
The protein that activates NF-kB is mutated in Incontinentia Pigmenti and this other syndrome.
What is hypohidrotic ectodermal dysplasia with immune deficiency?
Wiskott-Aldrich syndrome leads to infections with recurrent encapsulated bacterial infections, eczematous dermatitis, and thrombocytopenia. Patients are at increased risk of this type of malignancy.
What are non-hodgkin's lymphoma and hematologic malignancies?
A patient presents with recurrent infections with catalase + organisms. This test can help aid in diagnosis.
Nitroblue tetrazolium test.
What are congenital tibial pseudarthroses and sphenoid wing dysplasia?
This is the histologic finding of the first cutaneous manifestation in tuberous sclerosis.
What is normal # of melanocytes with decreased pigmentation?
Patients with PORCN mutations have this associated bone finding.
What is osteopathia striata? (streaks of decreased bone density)
What is ataxia?
This eye finding is present in 75% of patients with Gardner syndrome, and can be an early sign of the disorder.
What is congenital hypertrophy of the retinal pigment epithelium?
This is a characteristic finding on pathology of the most common cutaneous lesions in NF2.
What are verocay bodies?
Cardiac rhabdomyomas can lead to this type of arrythmia in patients with tuberous sclerosis.
What is Wolf-Parkinson-White arrythmia?
This type of mosaicism is caused by fertilization of one egg by two sperm or fusion of two zygotes leading to an individual composed of two cell lines with completely different genotypes.
Chediak-Higashi and Griscelli disease can be distinguished by this finding on trichoscopy.
What is regularly spaced giant melanosomes?
This process can lead to clinical signs of graft-versus host disease in neonates with severe combined immunodeficiency.
What is transplacental transfer of maternal T-lymphocytes?
Watson syndrome is NF1 and this finding?
What is pulmonic stenosis?
In women, this pulmonary finding is a late manifestation of tuberous sclerosis.
What is pulmonary lymphangioleiomyomatosis?
What is Spitz nevus? (HRAS mutation)
This finding in the lungs can be seen in patients who have extensive warts, atypical mycobacterial infections, and deep fungal infections.
What is pulmonary alveolar proteinosis?
This finding can be seen on polarizing microscopy of patients with a-galactosidase mutations.
What are "Maltese crosses"? (birefringent lipid globules)
This mutation is seen in patients who present with multiple cafe au lait macules, axillary freckling, learning disabilities, but no cutaneous neurofibromas.
What is SPRED 1 in Legius syndrome?
This pathognomonic criterion for Cowden's syndrome leads to ataxia, seizures, and increased intracranial pressure.
What is Lhermitte-Duclos disease? (dysplastic gangliocytoma of cerebellum)
Mutations causing Werner syndrome encode this type of protein.
What is DNA helicase?