immunodeficiency search

 

Algorithm
Disease List
Lab Resources

 

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

 

 

 

 

SYNDROMES LISTED ALPHABETICALLY
Syndromes listed alphabetically
Neurologic Abnormalities
GI Abnormalities
Cutaneous Abnormalities
Growth Abnormalities
Chromosomal Abnormalities
Inborn Error of Metabolism