scholarly journals The risk of hemophagocytic lymphohistiocytosis in Hermansky-Pudlak syndrome type 2

Blood ◽  
2013 ◽  
Vol 121 (15) ◽  
pp. 2943-2951 ◽  
Author(s):  
Birthe Jessen ◽  
Sebastian F. N. Bode ◽  
Sandra Ammann ◽  
Subarna Chakravorty ◽  
Graham Davies ◽  
...  
Keyword(s):  
Hemophagocytic Lymphohistiocytosis ◽  
Syndrome Type ◽  
Moderate Risk ◽  
Key Points ◽  
Hermansky Pudlak Syndrome

Key Points Hermansky-Pudlak syndrome type 2 confers a moderate risk for hemophagocytic lymphohistiocytosis.

Late-onset hemophagocytic lymphohistiocytosis (HLH) in an adult female with Griscelli syndrome type 2 (GS2)

2014 ◽  
Vol 94 (6) ◽  
pp. 1057-1060 ◽  
Author(s):  
Martin Henkes ◽  
Jürgen Finke ◽  
Klaus Warnatz ◽  
Sandra Ammann ◽  
Udo Zur Stadt ◽  
...  
Keyword(s):  
Adult Female ◽  
Hemophagocytic Lymphohistiocytosis ◽  
Late Onset ◽  
Syndrome Type ◽  
Griscelli Syndrome

scholarly journals Disruption of AP3B1by a chromosome 5 inversion: a new disease mechanism in Hermansky-Pudlak syndrome type 2

2013 ◽  
Vol 14 (1) ◽  
Author(s):  
Matthew L Jones ◽  
Sherina L Murden ◽  
Claire Brooks ◽  
Viv Maloney ◽  
Richard A Manning ◽  
...  
Keyword(s):  
Syndrome Type ◽  
New Disease ◽  
Chromosome 5 ◽  
Disease Mechanism ◽  
Hermansky Pudlak Syndrome

Novel AP3B1 compound heterozygous mutations in a Japanese patient with Hermansky–Pudlak syndrome type 2

2019 ◽  
Vol 47 (2) ◽  
pp. 185-189 ◽  
Author(s):  
Takuro Nishikawa ◽  
Ken Okamura ◽  
Mizuki Moriyama ◽  
Kenji Watanabe ◽  
Atsuko Ibusuki ◽  
...  
Keyword(s):  
Japanese Patient ◽  
Compound Heterozygous ◽  
Syndrome Type ◽  
Hermansky Pudlak Syndrome ◽  
Compound Heterozygous Mutations

scholarly journals Griscelli Syndrome Type 2 Sine Albinism: Unraveling Differential RAB27A Effector Engagement

2020 ◽  
Vol 11 ◽  
Author(s):  
Yuta Ohishi ◽  
Sandra Ammann ◽  
Vahid Ziaee ◽  
Katharina Strege ◽  
Miriam Groß ◽  
...  
Keyword(s):  
Binding Sites ◽  
Hemophagocytic Lymphohistiocytosis ◽  
Inborn Error ◽  
Clinical Characteristics ◽  
Animal Cell ◽  
Rab Gtpase ◽  
Cytotoxic Lymphocytes ◽  
Syndrome Type ◽  
Griscelli Syndrome

Griscelli syndrome type 2 (GS-2) is an inborn error of immunity characterized by partial albinism and episodes of hemophagocytic lymphohistiocytosis (HLH). It is caused by RAB27A mutations that encode RAB27A, a member of the Rab GTPase family. RAB27A is expressed in many tissues and regulates vesicular transport and organelle dynamics. Occasionally, GS-2 patients with RAB27A mutation display normal pigmentation. The study of such variants provides the opportunity to map distinct binding sites for tissue-specific effectors on RAB27A. Here we present a new case of GS-2 without albinism (GS-2 sine albinism) caused by a novel missense mutation (Val143Ala) in the RAB27A and characterize its functional cellular consequences. Using pertinent animal cell lines, the Val143Ala mutation impairs both the RAB27A–SLP2-A interaction and RAB27A–MUNC13-4 interaction, but it does not affect the RAB27A–melanophilin (MLPH)/SLAC2-A interaction that is crucial for skin and hair pigmentation. We conclude that disruption of the RAB27A–MUNC13-4 interaction in cytotoxic lymphocytes leads to the HLH predisposition of the GS-2 patient with the Val143Ala mutation. Finally, we include a review of GS-2 sine albinism cases reported in the literature, summarizing their genetic and clinical characteristics.

scholarly journals Primary immunodeficiency associated with hypopigmentation: A differential diagnosis approach

2021 ◽  
Vol 49 (2) ◽  
pp. 178-190
Author(s):  
Raha Zamani ◽  
Sepideh Shahkarami ◽  
Nima Rezaei
Keyword(s):  
Primary Immunodeficiency ◽  
Treatment Options ◽  
Genetic Diseases ◽  
Endosomal Trafficking ◽  
Syndrome Type ◽  
Griscelli Syndrome ◽  
Hermansky Pudlak Syndrome ◽  
Chediak Higashi Syndrome ◽  
Prompt Diagnosis

Primary immunodeficiency diseases (PIDs) are a group of more than 400 disorders representing aberrant functioning or development of immune system. Hypopigmentation syndromes also characterize a distinguished cluster of diseases. However, hypopigmentation may also signify a feature of genetic diseases associated with immunodeficiency, such as Chediak–Higashi syndrome, Griscelli syndrome type 2, Hermansky–Pudlak syndrome type 2 and type 10, Vici syndrome, and P14/LAMTOR2 deficiency, all of which are linked with dysfunction in vesicular/endosomal trafficking. Regarding the highly overlapping features, these disorders need a comprehensive examination for prompt diagnosis and effective management. As an aid to clinician, distinguishing the pathophysiology, clinical phenotype, and diagnosis as well as treatment options of the six mentioned PID disorders associated with hypopigmentation are described and discussed in this review.

scholarly journals Defective HIV-1 Particle Assembly in AP-3-Deficient Cells Derived from Patients with Hermansky-Pudlak Syndrome Type 2

2012 ◽  
Vol 86 (20) ◽  
pp. 11242-11253 ◽  
Author(s):  
L. Liu ◽  
J. Sutton ◽  
E. Woodruff ◽  
F. Villalta ◽  
P. Spearman ◽  
...  
Keyword(s):  
Syndrome Type ◽  
Particle Assembly ◽  
Hermansky Pudlak Syndrome ◽  
Hiv 1

scholarly journals Defective AP-3-dependent VAMP8 trafficking impairs Weibel-Palade body exocytosis in Hermansky-Pudlak Syndrome type 2 blood outgrowth endothelial cells

Haematologica ◽  
2019 ◽  
Vol 104 (10) ◽  
pp. 2091-2099 ◽  
Author(s):  
Ellie Karampini ◽  
Maaike Schillemans ◽  
Menno Hofman ◽  
Floris van Alphen ◽  
Martin de Boer ◽  
...  
Keyword(s):  
Endothelial Cells ◽  
Syndrome Type ◽  
Hermansky Pudlak Syndrome

scholarly journals Nonsense Mutations in ADTB3A Cause Complete Deficiency of the β3A Subunit of Adaptor Complex-3 and Severe Hermansky-Pudlak Syndrome Type 2

2002 ◽  
Vol 51 (2) ◽  
pp. 150-158 ◽  
Author(s):  
Marjan Huizing ◽  
Charles D Scher ◽  
Erin Strovel ◽  
Diana L Fitzpatrick ◽  
Lisa M Hartnell ◽  
...  
Keyword(s):  
Syndrome Type ◽  
Nonsense Mutations ◽  
Hermansky Pudlak Syndrome
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