Phenotype #0000068458

Individual ID 00089064
Associated disease PN
Phenotype details Cutaneous rash started at 4 months of age, then evolved in poikiloderma; neutropenia; recurrent otitis media, bronchitis, cellulitis; pachyonychia; autoimmune thyroiditis; history of chronic diarrhea in infancy; calcinosis cutis.
The patient received GCSF.
Bone marrow studies were normal.
Diagnosis/Initial -
Inheritance Familial, autosomal recessive
Diagnosis/Definite -
Age/Examination ?
Age/Diagnosis 01y
Age/Onset 00y04m
Phenotype/Onset -
Protein -
Owner name Elisa Adele Colombo