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Severe Congenital Neutropenia
Published in Dongyou Liu, Handbook of Tumor Syndromes, 2020
Differential diagnoses for severe congenital neutropenia include inherited conditions that present neutropenia as part of clinical phenotype, such as Barth syndrome, cartilage-hair hypoplasia, Charcot−Marie−Tooth disease (due to DNM2 mutation), Chediak−Higashi syndrome, Clericuzio poikiloderma with neutropenia, Cohen syndrome, glycogen storage disease type 1b, Griscelli syndrome type 2, Hermansky−Pudlak syndrome type 2, immunodeficiency due to defect in MAPBP-interacting protein (P14 deficiency), and WHIM syndrome [13,17,23,24].
Delayed diagnosis of Griscelli syndrome type 2 with compound heterozygote RAB27A variants presenting with pulmonary failure
Published in Pediatric Hematology and Oncology, 2021
Yoav H. Messinger, Tamara C. Pozos, Anne G. Griffiths, William A. Mize, Damon R. Olson, Angela R. Smith
Griscelli syndrome type 2 (GS2) is caused by mutations of the RAB27A gene and can be complicated by hemophagocytic lymphohistiocytosis (HLH) at a very young age. A 14 year-old girl with prior history of demyelinating brain lesions developed multiorgan failure with severe respiratory failure. Lung biopsy was non-diagnostic. Whole exome sequencing revealed compound heterozygote RAB27A variants. Clinical and laboratory signs suggested HLH and she was treated with dexamethasone and etoposide with rapid respiratory recovery. She underwent unrelated stem-cell transplantation and is alive and healthy 3 years after transplantation. Unique to this case are her delayed presentation of HLH in GS2 with respiratory failure and the identification of her 20 year old sister who has identical RAB27A variants yet is healthy without need for bone marrow transplantation.
Macrophage activation syndrome in systemic juvenile idiopathic arthritis
Published in Immunological Medicine, 2021
Mutations of the RAB27A gene-encoding Rab27a protein, a MUNC13-4 effector molecule, have been linked to the development of Griscelli syndrome type 2 [33]. Mutations of the Lyst gene-encoding LYST protein, which is essential for lysosomal trafficking and protein sorting, have been identified to cause Chediak–Higashi syndrome [34]. Mutations of the AP3B1 gene-encoding AP3βchain protein, which is essential for the trafficking from Golgi to granules, can cause Hermasly–Pudlak 2 syndrome [35]. These three disorders can be complicated by pHLH with partial albinism.