immunodeficiency search

 

22q11.2 Deletion (DiGeorge)

 

4p Partial Deletion

 

Acrodermatitis Enteropathica

 

Adenosine Deaminase Deficiency

 

Ataxia Telangiectasia

 

Barth Syndrome

 

Bloom Syndrome

 

Branched Chain Amino Acidurias

 

Cartilage Hair Hypoplasia

 

CHARGE Association

 

Chediak- Higashi Syndrome

 

Cohen Syndrome

 

DNA Ligase Deficiency

 

Dyskeratosis Congenita

 

Ectodermal Dysplasia

 

Familial Intestinal Polyatresia

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Fanconi Syndrome

 

Galactosemia

 

Glycogen Storage Disease Ib/Ic

 

Griselli Syndrome

 

Hermansky-Pudlak Syndome

 

Hoyerall-Hreidarsson Syndrome

 

ICF Syndrome

 

Incontinentia Pigmenti

 

Kabuki Syndrome

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Lysinuric Protein Intolerance

 

Mulvihill-Smith Syndrome

 

Myotonic Dystrophy

 

Netherton Syndrome

 

Nijmegen Breakage Syndrome

 

Omenn Syndrome

 

p14 Deficiency

 

Papillon-Lefevere Syndrome

 

Poikiloderma with Neutropenia

 

PNP Deficiency

 

Roifman Syndrome 1

 

Roifman Syndrome 2

 

Rubinstein-Taybi Syndrome

 

Schimke Immuno-Osseous Dysplasia

 

Shwachman-Diamond Syndrome

 

Trichohepatoenteric Syndrome

 

Trisomy 21

 

Turner Syndrome

 

WHIM Syndrome

 

WHN Syndrome

 

Wiskott-Aldrich Syndrome