ORPHA101987 – Constitutional neutropenia
ORPHA2686 – Cyclic neutropenia
ORPHA42738 – Severe congenital neutropenia
ORPHA486 – Autosomal dominant severe congenital neutropenia
ORPHA86788 – X-linked severe congenital neutropenia
ORPHA439849 – Autosomal recessive severe congenital neutropenia
ORPHA99749 – Kostmann syndrome
ORPHA331176 – Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
ORPHA420699 – Autosomal recessive severe congenital neutropenia due to CXCR2 deficiency
ORPHA420702 – Autosomal recessive severe congenital neutropenia due to CSF3R deficiency
ORPHA423384 – Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency
ORPHA331184 – Constitutional neutropenia with extra-hematopoietic manifestations
ORPHA699 – Pearson syndrome
ORPHA167 – Chédiak-Higashi syndrome
ORPHA193 – Cohen syndrome
ORPHA111 – Barth syndrome
ORPHA2390 – Lichtenstein syndrome
ORPHA2690 – Neutropenia-monocytopenia-deafness syndrome

ORPHA51636 – WHIM syndrome
ORPHA79259 – Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib
ORPHA79477 – Griscelli syndrome type 2
ORPHA90023 – Primary immunodeficiency syndrome due to p14 deficiency
ORPHA183678 – Hermansky-Pudlak syndrome with neutropenia
ORPHA221046 – Poikiloderma with neutropenia
ORPHA369852 – Congenital neutropenia-myelofibrosis-nephromegaly syndrome

ORPHA183681 – Functional neutrophil defect
ORPHA379 – Chronic granulomatous disease
ORPHA2587 – Myeloperoxidase deficiency
ORPHA678 – Papillon-Lefèvre syndrome
ORPHA2968 – Leukocyte adhesion deficiency
ORPHA99842 – Leukocyte adhesion deficiency type I
ORPHA99843 – Leukocyte adhesion deficiency type II
ORPHA99844 – Leukocyte adhesion deficiency type III
ORPHA811 – Shwachman-Diamond syndrome

ORPHA169142 – Recurrent infection due to specific granule deficiency
ORPHA183707 – Neutrophil immunodeficiency syndrome

ORPHA447740 – Susceptibility to localized juvenile periodontitis


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Centre of reference coordinator / Centre of reference constituentCompetence centreAssociated centre Undefined
Speciality : Adult Pediatric