Autoinflammation and PLCG2-associated antibody deficiency and immune dysregulation
|
(Orphanet:324530)
|
Bloom syndrome
|
(Orphanet:125)
|
IMMUNE DEFICIENCY DISEASE
|
(OMIM:242850)
|
IMMUNODEFICIENCY, COMMON VARIABLE, 1
|
(OMIM:607594)
|
IMMUNODEFICIENCY, COMMON VARIABLE, 2
|
(OMIM:240500)
|
IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY
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(OMIM:614700)
|
LYMPHOID SYSTEM DETERIORATION, PROGRESSIVE
|
(OMIM:247630)
|
Lung fibrosis - immunodeficiency - 46,XX gonadal dysgenesis
|
(Orphanet:137631)
|
MENTAL RETARDATION, X-LINKED, SYNDROMIC, CHUDLEY-SCHWARTZ TYPE
|
(OMIM:300861)
|
Microcephalic primordial dwarfism, Toriello type
|
(Orphanet:2643)
|
Persistent polyclonal B-cell lymphocytosis
|
(Orphanet:300324)
|
Polyarteritis nodosa, childhood-onset
|
(OMIM:615688)
|
Primary immunodeficiency syndrome due to p14 deficiency
|
(Orphanet:90023)
|
Proximal myotonic myopathy
|
(Orphanet:606)
|
Severe combined immunodeficiency due to adenosine deaminase deficiency
|
(Orphanet:277)
|
Transcobalamin deficiency
|
(Orphanet:859)
|
WISKOTT-ALDRICH SYNDROME
|
(OMIM:301000)
|
WISKOTT-ALDRICH SYNDROME, AUTOSOMAL DOMINANT FORM
|
(OMIM:600903)
|