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Hermansky-Pudlak syndrome 2

Hermansky-Pudlak syndrome 2 is an autosomal recessive disorder caused by mutations of the AP3B1 gene. It is characterized by oculocutaneous albinism, bleeding disorder and, in some cases, pulmonary fibrosis or granulomatous colitis.

Systematic

Hereditary dermatological disorders
Autoinflammation with arthritis and dyskeratosis
Chronic atypical neutrophilic dermatosis-lipodystrophy-elevated temperature syndrome
Dyschromatosis symmetrica hereditaria
Ectodermal dysplasia and immunodeficiency
Epidermolysis bullosa
Familial acne inversa 1
Griscelli syndrome type 2
Hermansky-Pudlak syndrome 2
AP3B1
Incontinentia pigmenti
Infantile-onset periodic fever-panniculitis-dermatosis syndrome
Interleukin 36 receptor antagonist deficiency
Interstitial lung disease with nephrotic syndrome and epidermolysis bullosa
Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome
Neonatal inflammatory skin and bowel disease type 1
Nephropathy with pretibial epidermolysis bullosa and deafness
Piebaldism
Psoriasis
Pyoderma gangrenosum, acne, and hidradenitis suppurativa (PASH)
Pyogenic arthritis-pyoderma gangrenosum-acne syndrome
Susceptibility to vitiligo-associated multiple autoimmune disease 1

References:

1.

Kotzot D et al. (1994) Oculocutaneous albinism, immunodeficiency, hematological disorders, and minor anomalies: a new autosomal recessive syndrome?

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2.

Dell'Angelica EC et al. (1999) Altered trafficking of lysosomal proteins in Hermansky-Pudlak syndrome due to mutations in the beta 3A subunit of the AP-3 adaptor.

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3.

Huizing M et al. (2002) Nonsense mutations in ADTB3A cause complete deficiency of the beta3A subunit of adaptor complex-3 and severe Hermansky-Pudlak syndrome type 2.

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4.

Clark RH et al. (2003) Adaptor protein 3-dependent microtubule-mediated movement of lytic granules to the immunological synapse.

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5.

Jung J et al. (2006) Identification of a homozygous deletion in the AP3B1 gene causing Hermansky-Pudlak syndrome, type 2.

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6.

Enders A et al. (2006) Lethal hemophagocytic lymphohistiocytosis in Hermansky-Pudlak syndrome type II.

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7.

None (1999) Multi-organellar disorders of pigmentation: tied up in traffic.

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8.

Sugita M et al. (2002) Failure of trafficking and antigen presentation by CD1 in AP-3-deficient cells.

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9.

Fontana S et al. (2006) Innate immunity defects in Hermansky-Pudlak type 2 syndrome.

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Update: Aug. 14, 2020
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