Autosomal recessive lymphoproliferative disease
|
(Orphanet:238505)
|
Bloom syndrome
|
(Orphanet:125)
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COMBINED IMMUNODEFICIENCY, X-LINKED
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(OMIM:312863)
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Combined immunodeficiency with skin granulomas
|
(Orphanet:157949)
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Common variable immunodeficiency
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(Orphanet:1572)
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Dubowitz syndrome
|
(Orphanet:235)
|
ENTEROPATHY, FAMILIAL, WITH VILLOUS EDEMA AND IMMUNOGLOBULIN G2 DEFICIENCY
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(OMIM:600351)
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HYPOPROTEINEMIA, HYPERCATABOLIC
|
(OMIM:241600)
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Hepatic veno-occlusive disease - immunodeficiency
|
(Orphanet:79124)
|
Hyper-IgM syndrome type 2
|
(Orphanet:101089)
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Hyper-IgM syndrome type 3
|
(Orphanet:101090)
|
Hyper-IgM syndrome type 5
|
(Orphanet:101092)
|
IMMUNE DEFICIENCY, FAMILIAL VARIABLE
|
(OMIM:146830)
|
IMMUNODEFICIENCY WITHOUT ANHIDROTIC ECTODERMAL DYSPLASIA
|
(OMIM:300584)
|
IMMUNODEFICIENCY, COMMON VARIABLE, 1
|
(OMIM:607594)
|
IMMUNODEFICIENCY, COMMON VARIABLE, 2
|
(OMIM:240500)
|
IMMUNODEFICIENCY, COMMON VARIABLE, 4
|
(OMIM:613494)
|
IMMUNODEFICIENCY, PARTIAL COMBINED, WITH ABSENCE OF HLA DETERMINANTSAND BETA-2-MICROGLOBULIN FROM LYMPHOCYTES
|
(OMIM:242870)
|
IMMUNOERYTHROMYELOID HYPOPLASIA
|
(OMIM:242880)
|
Intestinal lymphangiectasia
|
(Orphanet:36204)
|
LEUKOENCEPHALOPATHY, ARTHRITIS, COLITIS, AND HYPOGAMMAGLOBULINEMA
|
(OMIM:608809)
|
LYMPHOID SYSTEM DETERIORATION, PROGRESSIVE
|
(OMIM:247630)
|
LYMPHOPROLIFERATIVE SYNDROME, X-LINKED, 1
|
(OMIM:308240)
|
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)
|
PMM2-CDG
|
(Orphanet:79318)
|
Polyarteritis nodosa, childhood-onset
|
(OMIM:615688)
|
Proximal myotonic myopathy
|
(Orphanet:606)
|
RETINAL TELANGIECTASIA AND HYPOGAMMAGLOBULINEMIA
|
(OMIM:267900)
|
RIDDLE SYNDROME
|
(OMIM:611943)
|
SPONASTRIME dysplasia
|
(Orphanet:93357)
|
Severe combined immunodeficiency due to adenosine deaminase deficiency
|
(Orphanet:277)
|
TRICHOTHIODYSTROPHY, PHOTOSENSITIVE
|
(OMIM:601675)
|
Transcobalamin deficiency
|
(Orphanet:859)
|
Vici syndrome
|
(Orphanet:1493)
|
WHIM syndrome
|
(Orphanet:51636)
|
X-linked hyper-IgM syndrome
|
(Orphanet:101088)
|